ePoster Presentations Proceedings
51 Subcutaneous immunoglobulin in anti-HMGCR myopathy with children for long-term maintenance
Dilek Cavusoglu, Beril Talim, Haluk Topaloglu
52 Sirolimus in Tuberous Sclerosis Complex prior to epilepsy: evidence from a registry-based real-world study
Yan-Wen Shen, Yang-Yang Wang, Meng-Na Zhang, Yong Xu, Qian Lu, Wen He, Hui-Min Chen, Li-Ying Liu, Ling-Yu Pang, Qiu-Hong Wang, Shuo Dun, Yu-Feng Li, Jing Gao, Fang Han, Li-Ping Zou
53 SLC25A12 as a new candidate for febrile seizures: a case-control association study
Yan-Wen Shen, Xiu-Yu Shi, Hua-Cheng Zheng, Li-Ping Zou
54 Long-term prognosis of neurological system in tuberous sclerosis complex with neonatal onset epilepsy
Yan-Wen Shen, Yong Xu, Li-Ping Zou, Meng-Na Zhang, Jing He, Wen-Jing Zhou
56 Identification of candidate genetic susceptibility variants in the carnitine (Cn) transporter and carnitine biosynthesis gene families in Autism Spectrum Disorder: A novel precision medicine target
Ingrid Tein, Anne-Marie Lamhonwah, Mehdi Zarrei, Evdokia Anagnostou, Stephen Scherer
57 Relationship Between the Level of Gross Motor Function and Magnetic Resonance Imaging Findings in Children with Cerebral Palsy in a Tertiary Care Hospital
Sanjida Ahmed, Shaheen Akhter, Gopen Kumar Kundu
58 Association of Functional Ability with Nutritional status among Children with Cerebral Palsy
Razia Sultana, Ariful Islam, Naila Zaman
59 Improvement of Hand Hygiene Practices among the Healthcare Workers in a Neonatal Intensive Care Unit
ABDULLAHEL AMAAN, Sanjoy Dey
61 High-efficacy treatment for aggressive pediatric Multiple Sclerosis
Maria Shumilina
62 Congenital myotonic dystrophy: a retrospective study of a single center
Duygu Yılmaz, Gökçe Eser, Haluk Topaloglu
63 S-adenosylhomocysteine hydrolase deficiency with associated masseter hypertrophy, bradykinesia, and cerebellar atrophy and alterations of creatine and choline homeostasis. Expansion of cerebrohepatomuscular phenotype
Judy Pipo-Deveza, Rebekah Jobling, Susan Blaser, Amanda Carnevale, Wayne Langburt, Grace Yoon, Ingrid Tein
64 Seroprevalence of Anti- N-methyl-D-aspartate receptor antibodies in children with seizures of unknown cause
Mohammed Abdulrasol Abdulamer, Nebal Waill Saadi , Batool Ali Ghalib Yassin , Imad Al Jumaili
65 Neuromyelitis Optica Spectrum Disorder in a sample of children: Experience of Children Welfare Teaching Hospital, Baghdad
Hayder Kadhim Jabbar, Nebal Waill Saadi
66 Clinical profile and outcome of 6 patients with Biotinidase deficiency: An experience from a tertiary care hospital of Pakistan
dr.IRAM JAVED
67 Polymicrogyria and epilepsy with continuous spike-wave during sleep in pediatric patients
Sviatlana Kulikova, Sergei Likhachev, Inna Kozyreva, Micle Talabaev
68 Establishment of High-Risk Infant Follow up Clinic for Implementation of Early Diagnosis of Cerebral Palsy Guidelines
Khaled Ashour, tarek omar, Basma ElMohandes
70 Effect of oxidative stress and Glutathione on telomere length in a population of Egyptian autistic children
Nagwa meguid, Mohamed Taha, Adel Hashish, Ayat Abdaltawab
71 CLINICAL SPECTRUM OF THE LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2E (LGMD2E)
Gokce Eser, Ayse Karaduman, Duygu Yılmaz, Haluk Topaloglu
72 THE MIRACLE OF NUCLEOSIDE TREATMENT IN THYMIDINE KINASE 2 DEFICIENCY
Gokce Eser, Ali Zeki Bedir, Haluk Topaloglu
76 Diagnosis challenges of child abnormal movement in limited settings countries, the case of a little girl abandoned on the way to care
Dramane Coulibaly, Zeinab Kone, Mady Niakaté
77 HEALTH-RELATED QUALITY OF LIFE OF CHILDREN \WITH CEREBRAL PALSY AT A TERTIARY HOSPITAL IN NIGERIA
Naja'atu Hamza, Denis Richard Shatima, Mariya Mukhtar Yola, Jane Oowo Anyiam
78 Thinning of the corpus callosum prominent in the splenium and colpocephaly: the AP-4 deficiency syndrome
Aydan Değerliyurt, Özlem Yayıcı Köken, Hanife Saat, Tülin Hakan Demirkan
79 CHEDDA syndrome associated with epileptic encephalopathy and hand stereotypies
İlknur EROL , Yasemin ÖZKALE, Atıl BİŞGİN
80 A case of CAV3 caveolinopathy / channelopathy with familial absence epilepsy and distal myoneuronopathy extending the clinical spectrum
İlknur Erol, Elif Perihan Öncel, Şeyda Beşen, Leman Tekin Orgun, Atıl Bişgin
81 The first Turkish case with early-juvenile-onset recessive distal titinopathy and the first case with prominent neurogenic involvement
İlknur Erol, Elif Perihan Öncel, Şeyda Beşen, Leman Tekin , Sevcan Tuğ Bozdoğan
82 Second Turkish case with MICU1 mutation-related myopathy and extrapyramidal findings
Elif Perihan ÖNCEL, İlknur Erol , Şeyda Beşen, Leman Tekin Orgun, İbrahim Boğa , Atıl Bişgin
83 A novel mutation in the RUNX2 gene; a rare cause of enlarged fontanel
Murat Özkale, Özlem Sangün, Atıl Bişgin, İbrahim Boğa, İlknıur Erol
84 The first case of spastic ataxia type 4 associated with heterozygous mutations in MTPAP gene
İlknur Erol, Ruken Tekdemir, Şeyda Beşen, Elif Perihan Öncel , Leman Tekin , Sevcan Tuğ Bozdoğan, İbrahim Boğa
85 An unusual cause of torticollis in childhood
INDRASISH RAY CHAUDHURI, PRABHAS PRASUN GIRI, GOUTAM GOSWAMI, ROHIT KAPOOR
86 Neurological and immunological phenotypes in Ataxia Telangiectasia
Pinar Yavuz, İbrahim Oncel, Aysegül Akarsu, Deniz Ayvaz, Ilhan Tezcan, Banu ANLAR
88 Online Mother and Baby Yoga for Preterm-Born Infants and Their Mothers in the Time of COVID-19 Pandemic
Dilara Bozgan, Elmas Zeynep İnce, Gizem Tosun, Meliha Mine Çalışkan
89 Pediatric Moya Moya Disease: Clinical and Radio-Angiographic characteristics- A study from a Tertiary care center in Bangladesh
Kanij Fatema, MD Mizanur Rahman, Shaheen Akhter, MD Monir Hossain
90 Predisposing factors to childhood Epilepsy at the Federal Medical Centre Umuahia Nigeria
Amarachukwu Okafor, Ihuoma Ukpabi, Roseann Chidomere, Ojinnaka Ngozi
91 Online paediatric EEG handbook: a survey on its usefulness
Veena Kander
92 A Case of Carbamazepine Responsive Neonatal Epilepsy Secondary to PACS2 Gene mutation
Pawan Kashyape, Abdulla Alawadhi, Nikhil Pawar, Samar Almuntaser
93 Solving a puzzle: An infant with developmental delay, epileptic spasms, and petechiae
Ayse Yasemin Celik, Didem Ardicli, Burak Yürek, Ciğdem Seher Kasapkara, Halil Ibrahim Yakut, Nesrin Ceylan, Esra Kılıc, Aysegül Nese Cıtak Kurt
97 Dancing eyes and lazy gut in an infant with developmental delay
Ashna Kumar, Suvasini Sharma
98 Gene Panel Testing in children with Early Onset Epileptic Encephalopathies : A study in a Tertiary car center in Bangladesh
Kanij Fatema, Md Mizanur Rahman, Shaheen Akhter
100 A case report of sequential seizure semiology as a sign of genetic etiology
Thomas Murray, Jorge Vidaurre
101 Arthrogryposis multiplex congenita and SCN1A mutations: Another reported case and treatment guidance
Alyssa Robison, Charlotte Hollman
102 Paraneoplastic Guillain-Barre Syndrome: A case report and call for modified diagnostic criteria
Alyssa Robison, Alex Card, Sumeet Bhatia
103 PREVALENCE AND OUTCOMES OF AUTOIMMUNE ENCEPHALITIS IN A TERTIARY HOSPITAL IN BAGUIO CITY, PHILIPPINES
JAIDI SAGAY
107 NEUROIMAGING CHARACTERISTICS OF TUBEROUS SCLEROSIS COMPLEX IN PAEDIATRIC PATIENTS AT A TERTIARY HEALTH FACILITY IN KENYA: A CASE SERIES
Maureen Njoroge, Sheila Waa, Jacqueline Mavuti, Pauline Samia
108 Acoustic alterations of ultrasonic vocalization in the autism model mice (duplication of 15 q11-13) upon maternal isolation
HIROMI WADA
113 Opercular syndrome due to Herpes Encephalitis
Sevgi Yimenicioglu, Nur Badak, Vural Fidan, Arzu Ekici
114 The landscape of Lissencephaly among Egyptian Patients
Maha Zaki, Mahmoud Issa, Hasnaa Elbendary, Karima Rafat, Sherif Abdel-Ghafar, Ibrahim Hegazy, Ghada Abdel-Salam, Joseph Gleeson, Mohamed Abdel-Hamid
116 A Pictorial Review of Paediatric Histiocytic Disorders in the Head and Neck
Robert Hendeson, Rahul Lakshmanan
119 Pyridoxine in Management of Super-Refractory Status Epilepticus: A Case Report
Denis Richard Shatima, Naja'atu Hamza, Rumaysah Shehu Malami
120 FLAMES (FLAIR Hyperintense Lesions in Anti-Myelin Oligodendrocyte Glycoprotein-associated Encephalitis with Seizures), a case report.
Ángeles Schteinschnaider , María Gala González, Romina Nélida Dominguez, Paulina Yañez, Mario Massaro
121 POSTERIOR REVERSIBLE ENCEPHALOPATHY SYNDROME IN PEDIATRICS
Ángeles Schteinschnaider, Rocio Elizabeth Alamo, Romina Nélida Dominguez, Martin Carnevale, Paulina Yañez, Pablo Jorrat
123 OVERCOMING ADVERSITIES TO PROMOTE EARLY BRAIN DEVELOPMENT IN CHILDREN - A STUDY FROM RURAL INDIA
Nandita Chattopadhyay
125 NEUROCUTANEOUS MELANOSIS: CLINICAL AND IMAGING CHARACTERISTICS IN 7 PATIENTS
Angeles Schteinschnaider, Francina Belen Lombardi, Manuel Rivera, Romina Nelida Dominguez, Isaura Gonzalez, Paulina Yañez
126 HIRAYAMA DISEASE: ABOUT TWO CASES
Angeles Schteinschnaider, Francina Belen Lombardi, Solange Gril, Romina Nelida Dominguez, Isaura Gonzalez, Paulina Yañez, Eliana Julian, Martin Carnevale
128 Continuous Glucose Monitoring in Obese/Overweight Children and Adolescents with Neurological Manifestations: A Single Reference Center Experience
Çiğdem Genç Sel, Ayça Törel Ergür, Tuğçe Ataseven Emeksiz
129 Do Hyponatremia and Anemia in Simple Febrile Convulsions Affect Reccurence in The First 24 Hours?
ASIYE KESKIN BASASLAN, HUSEYIN TAN, ELIF YILDIRIM
132 The Diagnostic Utility of the Video EEG at a Tertiary Care Center of North India: A Retrospective Study
Rahul Sinha, Sonali Singh, Ashish Upadhyay, Gautam Kamila
133 Chronic meningitis mimicking idiopathic intracranial hypertension: a surprising diagnosis
HUSEYIN TAN, ELIF YILDIRIM, FILIZ KESKIN
135 New two findings in idiopathic generalized epilepsy-15 (EIG-15); happy demeanor and gait disturbance: a case report
ELIF YILDIRIM, HUSEYIN TAN, FILIZ KESKIN
136 Temporary Consciousness Disturbance in Van der Knaap disease after Minor Head Trauma
Arzu Ekici, Sevgi Yimenicioglu, Mehmet Ali EKİCİ
137 Performance of Physiotherapy Through Early Stimulation in High Risk Babies. Experience Report on the Insertion of this Elective Internship Program for Physiotherapy Students
Regina Turolla de Souza, Telma Dagmar Oberg, Airton Jose Martins
138 Myelin oligodendrocyte glycoprotein antibody-associated disorder due to COVID 19 infection: a child case report
HUSEYIN TAN, ELIF YILDIRIM, FILIZ KESKIN
140 A Novel Founder Mutation in the SGCB Gene Causes Severe Form of Limb Girdle Muscular Dystrophy (LGMD) 2E in Sathwara Community
Siddharth Shah, Alpesh Patel, Shivshankar Chettiar
141 An Investigation of the relationship between dystonia severity and functional independence and quality of life in children with dystonia: A Preliminary Study
Kamile Uzun Akkaya, Pelin Atalan, Zekiye Başaran, Esra Serdaroglu, Bulent Elbasan
142 Early infantile epileptic encephalopathy (Ohtahara Syndrome): A case report with STXBP1 mutation
Senem Ayca, Elif Nur Subay
144 Efficacy and Safety of Cannabidiol Dose Adjustment in Patients with Lennox-Gastaut Syndrome in a Phase 3 Trial and Open-label Extension
Timothy B Saurer, Elaine C Wirrell, Ashley Schreiber, Robert T Wechsler
146 Genetics and clinical phenotypes of epilepsy associated with Dup15q syndrome
Miaomiao Cheng, Ying Yang, Xueyang Niu, Yi Chen, Quanzhen Tan, Wenwei Liu, Xiaoling Yang, Zhixian Yang, Yuehua Zhang
147 A case of mitochondrial depletion syndrome type 13 due to a FBXL4 variant
Asburce Olgac, Halil İbrahim Aydın , Fatma Müjgan Sönmez
151 Reductions in oculogyric crisis duration and frequency in children with aromatic L-amino acid decarboxylase deficiency treated with eladocagene exuparvovec: results from 3 clinical trials
Paul Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Sheng-Hong Tseng, Antonio Wang, Allan Kristensen, Panayiota Trifillis, Tuna Koca, Chun-Hwei Tai
152 Eladocagene exuparvovec gene therapy improves motor development in patients with aromatic L-amino acid decarboxylase deficiency
Paul Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Sheng-Hong Tseng, Antonia Wang, Panayiota Trifillis, Tuna Koca, Chun-Hwei Tai
153 Eladocagene exuparvovec improves body weight and reduces respiratory infections in patients with aromatic L-amino acid decarboxylase deficiency
Paul Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Sheng-Hong Tseng, Antonia Wang, Panayiota Trifillis, Tuna Koca, Chun-Hwei Tai
154 Gene therapy with eladocagene exuparvovec improves cognition and language in patients with aromatic L-amino acid decarboxylase deficiency
Paul Wuh-Liang Hwu, Yin-Hsiu Chien, Ni-Chung Lee, Sheng-Hong Tseng, Antonia Wang, Panayiota Trifillis, Tuna Koca, Chun-Hwei Tai
155 Self-Limited Epilepsy with Autonomic Seizures (SeLEAS): A Case series
Ashna Kumar, Suvasini Sharma, Aakanksha Anand
156 Acute necrotizing encephalopathy (ANE) is a feature of dengue virus encephalitis
Sophie Barron, Tong Hong Yeo, Terrence Thomas
157 Linear scleroderma as one of the manifestations of collagenosis
Sarafroz Fayzullaeva, Nilufar Ziyamukhamedova
159 Prevention of Inherited Genetic Disease using WGS (whole genome sequencing)
Vinodh Narayanan, Keri Ramsey, Newell Belnap, Anna Abraham, Ashley Ryan, Sampath Rangasamy, Anna Bonfitto, Marcus Naymik, Matthew Huentelman, Denise Perry, Akila Subramaniam, Wayne Grody, Szabolcs Szelinger
160 Neurodevelopmental outcomes and clinical utility of genetic testing in a cohort of Australian families with self-limited (familial) epilepsy (neonatal/infantile onset)
Emily Innes, Suzanne Nevin, Rebecca Macintosh, Fleur Le Marne, Richard Webster, Sinthu Vivekanandarajah, Rani Sachdev, Annie Bye
161 The efficacy of Everolimus onTSC associated drug resistant epilepsy
Mohammad Barzegar, Bia Poorshiri, Sina Raeisi
162 Updated demographics and safety data from patients with nonsense mutation Duchenne muscular dystrophy receiving ataluren in the STRIDE Registry
Francesco Muntoni, Filippo Buccella, Isabelle Desguerre, Janbernd Kirschner, Eugenio Mercuri, Andrés Nascimento Osorio, Már Tulinius, Shelley Johnson, Christian Werner, Joel Jiang, James Li, Panayiota Trifillis
163 Comparison of timed function test results in nmDMD patients receiving ataluren: STRIDE Registry vs phase 3 clinical trial
Eugenio Mercuri, Francesco Muntoni, Már Tulinius, Filippo Buccella, Isabelle Desguerre, Janbernd Kirschner, Andrés Nascimento Osorio, Shelley Johnson, Christian Werner, Joel Jiang, James Li, Panayiota Trifillis
164 Comparing the change in 6-minute walk distance in nmDMD patients receiving ataluren: STRIDE Registry compared with phase 3 clinical trial
Francesco Muntoni, Már Tulinius, Filippo Buccella, Isabelle Desguerre, Janbernd Kirschner, Andrés Nascimento Osorio, Shelley Johnson, Christian Werner, Joel Jiang, James Li, Panayiota Trifillis, Eugenio Mercuri
165 Age at loss of ambulation in STRIDE Registry and CINRG Natural History Study patients with DMD: a matched cohort analysis
Eugenio Mercuri, Francesco Muntoni, Filippo Buccella, Isabelle Desguerre, Janbernd Kirschner, Andrés Nascimento Osorio, Már Tulinius, Shelley Johnson, Christian Werner, Joel Jiang, James Li, Panayiota Trifillis, Craig. M. McDonald
169 Pulmonary function in Duchenne muscular dystrophy patients from the STRIDE Registry and CINRG Natural History Study: a matched cohort analysis
Már Tulinius, Filippo Buccella, Isabelle Desguerre, Janbernd Kirschner, Eugenio Mercuri, Francesco Muntoni, Andrés Nascimento Osorio, Shelley Johnson, Christian Werner, Joel Jiang, James Li, Panayiota Trifillis, Craig. M. McDonald
170 Comparison of North Star Ambulatory Assessment score change in nmDMD patients receiving ataluren: STRIDE Registry vs phase 3 clinical trial
Francesco Muntoni, Már Tulinius, Filippo Buccella, Isabelle Desguerre, Janbernd Kirschner, Andrés Nascimento Osorio, Shelley Johnson, Christian Werner, Joel Jiang, James Li, Panayiota Trifillis, Eugenio Mercuri
171 Evaluation of the etiology of epilepsy and/or developmental delay in children with next generation sequencing: A single center experience
Handan Kava, Yasemin Alanay, Ahmet Yesilyurt, Ugur Isik
172 A Mobile Domiciliary Phlebotomy Service to Support Patients With Rare Disease and Screening Study Recruitment in the UK
Jo-anna Allen, Ian Davidson, Emily Fox, Mark Rance, Marie Monaghan
175 Epileptiform discharges and epilepsy in non-syndromic ASD patients. Pre, peri, post-natal risk factors for epilepsy.
Adelina Glangher, Magdalena Budisteanu, Florentina Ionela Linca
177 Primary headache with onset in childhood and adolescence: natural history and prognostic factors in a Portuguese population
Juliana da Silva Cardoso, Carolina Curto, Paula Manuel Vieira, Joanna Ashworth, Teresa Temudo, Inês Carrilhho
178 A case of a ADPRHL2 Mutation; Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy
Senem Ayça, Pelin Ozyavuz Çubuk
180 Prevalence Proportion and Clinical Spectrum of Genetic Epilepsy in Children of Bangladesh: A Hospital Based Study
Naznin Ruby, Iffat Shamsad, Shaheen Akhter
181 Recurrent Painful Ophthalmoplegic Neuropathy: Report of the Two New Pediatric Cases
Çağatay Günay, Pınar Edem, Semra Hız Kurul, Elif Yaşar, Uluç Yiş
182 The fate of spikes in self-limited epilepsy with centrotemporal spikes: Are clinical and baseline EEG features effective?
Çağatay Günay, Gamze Sarıkaya Uzan, Özlem Özsoy, Semra Hız Kurul, Uluç Yiş
183 Optic Neuritis in CD59 Deficiency: An Extremely Rare Presentation
Çağatay Günay, Elvan Yardım, Elif Yaşar, Semra Hız Kurul, Gamze Sarıkaya Uzan, Taylan Öztürk, Aylin Yaman, Uluç Yiş
184 COVID-19 Vaccine Hesitancy Among Neuromuscular Disorder Children and Adolescents
Michael Kwan Leung Yu, Wilfred Hing Sang Wong, Amy Suen, Jaime S Rosa Duque, Sophelia Hoi Shan Chan
185 A pediatric case of reversible splenial lesion syndrome associated with SARS-CoV-2: Case report
ARİFE DERDA YÜCEL ŞEN, KÜRŞAT BORA ÇARMAN, COŞKUN YARAR
186 New ways of treatment for childhood autism: are we moving in the right direction?
Taras Voloshyn
188 Evaluation of the Risk Factors for Developing Demyelinating Disease after Optic Neuritis in Children: A Single Center Experience
Mustafa Börekçi, Sevim Şahin, Nihal Yıldız, Mehmet Kola, Ali Cansu
191 Efficacy and tolerability of adjunctive perampanel in pediatric patients (aged 4–12 years) with inadequately controlled focal-onset seizures
Si-jia Chu, Ji-hong Tang
193 CLİNİCAL CHARACTERİSTİCS OF CASES WİTH SPİNAL MUSCULAR ATROPHY
ARİFE DERDA YÜCEL ŞEN, CEFA NİL ARSLAN KARADEMİR, EMRE KAPLAN, ERSİN YÜKSEL, COŞKUN YARAR, KÜRŞAT BORA ÇARMAN
195 Risk factors and prognosis of spinal cord injury without radiological abnormality in children in China
xuemei wu
196 Dynamic changes of cytoskeleton in epileptic mice
xuemei wu
197 Identification of 1q21.1 Microduplication in a family
Tingting Huang, Haifeng Xu, Shangyu Wang, Guo Zheng, Gang Zhang
199 An Observational Study to Assess Inter-observer agreement for neonatal EEG Interpretation
Vrushabh Gavali, Shilpa Kulkarni, Anaita Udwadia Hegde
200 Posterior fossa malformations in TASP1-related disorder (Suleiman-El-Hattab Syndrome)
Jehan Suleiman, Korbinian Riedhammer, Ayman El-Hattab
201 Assessing risk for relapse among children with infantile spasms using the BASED score
Lin Wan, Guang Yang
202 Phenotype of heterozygous variants of dehydrodolichol diphosphate synthase
Xianru Jiao, Yinan Xue, Sai Yang, Pan Gong, Yue Niu, Qi Wang, Hui Yang, Hui Xiong, Yuehua Zhang, Zhixian Yang
203 Social deficits and cerebellar degeneration in Purkinje cell Scn8a knockout mice
Xiaofan Yang
204 Challenges of determination in date of onset of infantile spasms: A tertiary health center’s experience
Aristides Hadjinicolaou, Christina Briscoe Abath, Avantika Singh, Stephanie Donatelli, Christopher Yuskaitis, Chellamani Harini
206 A case of first pediatric pseudotumor cerebri syndrome secondary to superior sagittal sinus thrombosis associated with SARS-CoV-2
Mehmet Can Yeşilmen, Çağatay Günay, Gamze Uzan Sarıkaya, Özlem Özsoy, Semra Hız Kurul, Elif Yaşar, Uluç Yiş
207 CASE REPORT: DOCK7 MUTATION AS A RARE CAUSE OF EPILEPTIC ENCEPHALOPATHY WITH CORTICAL BLINDNESS, DYSMORPHIC FINDINGS
Özlem Özsoy, Didem Soydemir, Çağatay Günay, Gamze Sarıkaya Uzan, Mehmet Can Yeşilmen, Ayşe Semra Hız, Uluç Yiş
209 Levetiracetam Monotherapy For The Treatment Of Febrile and Febrile Induced Seizures
Gamze Sarıkaya Uzan, Cem Paketçi, Semra Hız Kurul, Uluç Yiş
210 The Co-existence of Phenylketonuria and Myasthenia Gravis: A CaseReport
Bita Poorshiri, Mohammad Barzegar, Sina Raeisi, Mohammadreza Afghan
211 Clinical and genetic profiles of grey matter heterotopia – report of 28 patients
Magdalena Budisteanu, Sorina Mihaela Papuc, Catrinel Iliescu, Carmen Burloiu, Oana Tarta-Arsene, Diana Barca, Cristina Motoescu, Carmen Sandu, Alice Dica, Cristina Anghelescu, Adelina Glangher, Dana Craiu, Aurora Arghir
212 Pyrimidine Metabolism Disorders as Rare Cause of Psycho-motor Retardation, Dysmorphism and Epilepsy
Defne Alikılıç, Deniz Sünnetçi, Adnan Deniz, Merve Öztürk, Ömer Karaca, Mesut Güngör, Bülent Kara
213 Clinical Features Beyond Myopathy: Three Calpainopathy Patients with CAPN3 Mutation
Defne Alikılıç, Merve Öztürk, Adnan Deniz, Ömer Karaca, Mesut Güngör, Bülent Kara
214 Analysis of clinical features and genetic variants among patients with SLC6A1 mutations
Yunjian Zhang, Yifeng Ding, Yi Wang, Shuizhen Zhou
216 A case with developmental delay, resistant epilepsy and invuluntary movements diagnosed as SCN8A mutation
Emine Tekin, Betül Diler Durgut
221 Efficacy of Rituximab Treatment in Rasmussen’s Encephalitis
Merve Öztürk, Ömer Karaca, Defne Alikılıç, Adnan Deniz, Mesut Güngör, Bülent Kara
222 Leuprolide Acetate Induced Non-convulsive Status Epilepticus: Case Report
Merve Öztürk, Ömer Karaca, Defne Alikılıç, Adnan Deniz, Mesut Güngör, Bülent Kara
223 Immune mechanism in Benign Epilepsy with Centrotempral Spikes
Zhijie Zhang, Jing Wu, Danfeng Xu, Di Lian, Shengnan Zhao, Dandan Zhang, Ling Li
224 Phenotypic and genotypic expansion of TRAPPC12-related disorder
Dhanya Lakshmi Narayanan, Purvi Majethia, Lakshmi Priya Rao, Michelle do Rosario, Yatheesha BL, Suvasini Sharma , Shahyan Siddiqui, Girisha Katta, Anju Shukla
225 Congenital tonic pupil - what's behind?
Sandra Patricia Toelle, Anthia Papazoglou, Raimund Kottke, Christina Gehrt-Kahlert
226 Myotonia congenita associated to multiple sclerosis in a Tunisian family
Nouha Bouayed Abdelmoula
227 Sensorineural impairment in maternally inherited diabetes mellitus and deafness (MIDD) disorder
Nouha Bouayed Abdelmoula
228 Preconceptional diagnosis for giant axonal neuropathy before wedding engagement decision
Nouha Bouayed Abdelmoula
229 Is Screening of Congenital CMV Infection in Saliva by RT-PCR Feasible?
Ayla Günlemez, Fetiye Kolaylı, Eda Yazıcı, Ali Duranoğlu, Bülent Kara
230 Novel Mutations in AP3B2 Gene Cause an Early Onset Developmental and Epileptic Encephalopathy: A Rare Clinical Entity
Cengiz Dilber, Gül Yücel , Yavuz Şahin
231 Clinical predictors of positive genetic investigation of the developmental and epileptic encephalopathies
Maria Benevides, Helena Tadiello de Moraes, Diana Marcela Mejía Granados, Luciana Cardoso Bonadia, Letícia Sauma, Maria Augusta Montenegro, Iscia Lopes-Cendes, Ana Carolina Coan
236 First case of Bohring-Opitz syndrome inherited from the father
İlknur Erol , Murat Özkale, Atıl Bişgin
237 FOXG1 gene related epileptic diskinetic encephalopathy
Yasemin Özkale, Özgür Kütük , İlknur Erol
238 Intermediate severe Salla Disease in differential diagnosis of hypomyelinating leukodystrophy: the second and third case from Turkey
İlknur Erol , Yasemin Özkale, Özgür Kütük
239 A pediatric case with primary familial brain calcification due to a homozygous variant on the JAM2 gene
İlknur Erol , Leman Tekin Orgun, Şeyda Beşen, Sevcan Tug Bozdoğan , Özlem Alkan
240 The First Turkish case with HIVEP2-related intellectual disability
İlknur Erol, Şeyda Beşen, Elif Perihan Öncel , Leman Tekin Orgun, Özge Sönmezler, Atıl Bişgin
241 CLINICAL FEATURES OF PEDIATRIC ACUTE RHABDOMYOLYSIS
Yeliz Kutat, SERKAN KIRIK
242 PURA Syndrome: A Specific Phenotype
Ömer Karaca, Merve Öztürk, Defne Alikılıç, Adnan Deniz, Mesut Güngör, Bülent Kara
243 Efficacy of zinc treatment in 2 cases with Arg209Cys mutation in GNAO1 gene
Ömer Karaca, Merve Öztürk, Defne Alikılıç, Adnan Deniz, Mesut Güngör, Bülent Kara
244 Is pyridoxine effective in the treatment of hyperphosphatasia with mental retardation syndrome type 4: Single center experience
Şeyda Beşen, İlknur Erol , Özlem Sangün, Leman Tekin Orgun, Atıl Bişgin
245 The first siblings with TRAPPC6B mutation
İlknur Erol , Şeyda Beşen, Elif Perihan Öncel, Leman Tekin Orgun, Sevcan Tug Bozdoğan
246 Two siblings with combined oxidative phosphorylation defect 11 with a novel mutation in the RMND1 gene
İlknur Erol, Leman Tekin Orgun, Şeyda Beşen, Elif Perihan Öncel, İbrahim Boğa, Atıl Bişgin, Özlem Alkan
247 Two Turkish siblings with intellectual disability associated with TUSC3 mutation
İlknur Erol , Gökçe Yegül Gülnar, Elif Perihan ÖNCEL, Şeyda Beşen, Leman Tekin Orgun, Yavuz Şahin
248 Hand Postures and Localization Value in Patients at Video EEG Monitorization
Deniz Menderes, Esra Serdaroglu, Ayse Serdaroglu, Tugba Hirfanoglu, Ebru Arhan
249 Onasemnogene abeparvovec for Spinal Muscular Atrophy: Experience from one center in the United Arab Emirates
Vivek Mundada, Rania Abusamra, Omendra Narayan, Anand Gorva, Deepak Mullasery
250 Clinical and electophysiological evaluation of autonomic dysfunction in children with spastic cerebral palsy
HANAN AZOUZ, ALI ABDELMOHSEN, HAYAM ABDELGHANY
252 Evaluation of MicroRNAs in Pediatric Epilepsy
Kursat Bora Carman, Hande Gazeteci Tekin, Dilek Cavusoglu, Coskun Yarar, Emre Kaplan, Cefa Nil Karademir, Didem Arslantas
253 Neurological face of familial mediterranean fever
Polat Cengiz Bektas, Asli Kavas Tufan, Nuran Cetin, Coskun Yarar, Kursat Bora Carman
255 Clinical efficacy and safety of intrathecal methotrexate in the treatment of Balo’s concentric sclerosis: a case report
Deniz YUKSEL, Hale Celik, Ozge Kucur, Kader Oguz
256 Efficacy and Safety of Cerliponase Alpha Therapy in Neuronal Ceroid Lipofuscinosis Type 2
Salih Akbaş, Tugba Hırfanoglu, Alp Özgün Börcek, Tuğba Atalay, Sebla Endürlük, Nazlı Balcan Karaca, İlknur Cankurt, Recep Kamil Kılıç, Deniz Menderes, Ayşe Serdaroğlu, Esra Serdaroğlu, Kıvılcım Gücüyener, Ercan Demir, Ebru Arhan
257 Childhood Frontal Lobe Epilepsies: Etiology, Classification, and EEG Findings
Salih Akbaş, Ebru Arhan, Irem Yildirim, Aslı Akyol, Gokhan Kurt, Murat Ucar, Lütfiye Ozlem Atay, Ümit Ozgur Akdemir, Nazlı Balcan Karaca, Esra Serdaroğlu, Ercan Demir, Tugba Hırfanoglu
258 Epileptic Encephalopathy Secondary to Homozygous TBC1 Domain-Containing Kinase (TBCK) Mutation in Four Patients of Puerto Rican Descent
Johanna De Luca-Ramirez, Sofia Rosado-Fernandez, Orlando Torres
260 Isolated unilateral Palatal Palsy- a postinfectious inflammatory mononeuritis of the pharyngeal branch of the vagal nerve
Darshan Das , Areena Vincent
261 Treatments and Seizure Outcome of 327 Patients with Infantile Spasms: A Retrospective Analysis
Yinjie Ling, Peifang Jiang
262 Impact of COVID-19 pandemic on healthcare utilitsation and psychosocial well-being of children with neuromuscular disorder
Michael Kwan Leung Yu, Winnie Wan Yee Tso, Ka Man Yip, Wilfred Hing Sang Wong, Oscar Kuen Fong Yiu, Godfrey Chi Fung Chan, Patrick Ip, Sophelia Hoi Shan Chan
263 Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD); 2 different clinical outcome
Hale Atalay Celik, Zeynelabidin Ozturk, Yasemin Tascı Yıldız, Rahsan Gocmen, Deniz Yuksel
264 Hereditary Spastic Paraparesis Type 55: A Case Report
Seren AYDIN, Gokçen OZ TUNCER, Dilek AKTAS, Inci GUNGOR, Haydar Ali TASDEMIR
266 Evaluation of Prognostic Factors in Pediatric Transverse Myelitis: A Multicenter Cohort Study
Sevim Şahin, Gülen Gül Mert, Muhittin Bodur, Pınar Özkan Kart, Özlem Hergüner, İbrahim Öncel, Hasan Tekgül, Deniz Yüksel, Nihal Olgaç Dündar, Aycan Ünalp, Edibe Pembegül Yıldız, Mesut Güngör, Meltem Çobanoğulları Direk, İlknur Erol, Hüseyin Tan, Habibe Koç, Ayşe Tosun, A. Derda Yücel Şen, Banu Anlar, Turkish Pediatric Transverse Myelitis Study Group .
267 Hypocalcemic Seizure in a Girl with FOXG1-Gene–Related Encephalopathy
Magdalena Bliznakova, Georgi Boshev, Zhivka Chuperkova, Miglena Georgieva
269 ASSESSMENT OF CHILDHOOD HEADACHES: A SINGLE CENTER EXPERIENCE
müge baykan, osman büyükşen, nihal olgaç dündar, yiğithan güzin, pınar gençpınar
270 General Movements Assessment in Term Newborns with Moderate Hyperbilirubinemia
Deniz Erdem Fırat, Nargiz Aliyeva, Defne Engur, Nihal Olgac Dundar, Pinar Gencpinar
271 Congenital Myasthenia Syndrome: Correlation between clinical features and genetics from North India
Renu Suthar, Naveen Sankhyan, Yashovardhan Kaushal, Arushi G Saini, Pratibha Singhi
272 The neuronal ceroid lipofuscinoses type 8 (CLN8) gene mutations: A new compound heterozygous case and the protein's bioinformatic analyses
Muhammad Mahajnah, Rajech Sharkia, Abdelnaser Zalan, Hazar Zahalkah
274 Response Inhibition in Children with Different Subtypes/Presentations of Attention deficit hyperactivity disorder: a Near-infrared Spectroscopy Study
Yike Zhu, Siqi Liu, Fan Zhang, Yongying Ren, Tingyu Zhang, jing sun, Xin Wang, Lin Wang, Jian Yang
275 Clinical characteristics of children with neurodevelopmental delay and pathogenic copy number variations who underwent microarray analysis
Hülya Maraş Genç, Yasemin Kendir Demirkol, Hande Beklen, Büşra Kutlubay, Hatice Gülhan Sözen, Özlem Akgün Doğan
277 EVALUATION OF THE RISK FACTORS, FUNCTIONALITIES, LIFE QUALITIES OF THE PATIENTS WITH THE DIAGNOSIS OF PEDIATRIC ACUTE ARTERIAL ISCHEMIC STROKE
Fatih Mehmet Akif ÖZDEMİR, Ülkühan ÖZTOPRAK, Ali FETTAH, Utku Arman ÖRÜN, Mustafa KILIÇ, Fatma Gül SARIKAYA, Betül DERİNKUYU, Deniz YUKSEL
278 Unilateral internal carotid artery and middle cerebral artery thrombosis in a pediatric patient with mildly symptomatic COVID-19: Case report and literature review
Gülnur Esenülkü, Sevim Şahin, Şükrü Oğuz, Eser Bulut, Beril Dilber, Pınar Özkan Kart, Osman Yeşilbaş
279 A Multicenter Retrospective Study in Turkish Children with Myotonic Dystrophy Type 1
Gokcen Oz Tuncer, Aslıhan Sanrı, Gülbahar Kurt Bayır, Ilknur Erol, Merve Oztürk, Hasan Tekgül, Özlem Hergüner, Gültekin Kutluk, Dilek Cavusoglu, Hande Gazeteci Tekin, Mustafa Kömür, Ayse Aksoy
280 Compliance with riboflavin treatment in a patient with late-diagnosed Brovn-Vialetto-Van Laere syndrome
selahattin katar, Ahmet Yaramış
281 Riboflavin treatment in 3 cases with ETFDH gene mutation
selahattin katar, Ahmet Yaramış, Meral Bülbül Öztoprak
282 Clinical And Genetic Spectrum of Myotonia Congenita in Turkish Children
Gokcen Oz Tuncer, Aslıhan Sanrı, Seren Aydın , Ozlem Hergüner, Nezir Ozgün, Mustafa Kömür, Dilara Füsun İçağasıoğlu, Rabia Tütüncü Toker, Sanem Yılmaz, Elif Acar Arslan , Mesut Güngör , Gültekin Kutluk, Şeyda Beşen, Gülen Gül Mert, Burçin Gönüllü Polat, Ayşe Aksoy
283 NEONATAL EEG: IMPORTANCE AND UTILITY IN DIFFERANTIAL DIAGNOSIS and PROGNOSIS
Recep Kamil Kilic, Ebru Arhan, Ilknur Cankurt, Esra Serdaroglu, Ercan Demir, Tugba Hirfanoglu
285 Intractable epilepsy with Rahman Syndrome
Nefise Arıbaş Öz, Esra Gürkaş, Zeynep Selen Karalök, Ahmet Cevadet Ceylan
286 «Risk factors of the stroke in early age children»
Shaanvar Shamansurov, Shakhlo Saidazizova , Ziyodakhon Abduyaminova
287 CLINICAL EVALUATION OF CHILDREN DIAGNOSED WITH SYDENHAM CHOREA, SINGLE CENTER EXPERIENCE
Hüseyin PÜR, Mehmet CANPOLAT, Ümmü Gülsüm ÖZGÜL GÜMÜŞ, Hüseyin PER, Süreyya Burcu GÖRKEM, Ali BAYKAN, Hakan GÜMÜŞ
288 Pediatric Onset Chronic Inflammatory Demyelinating Polyneuropathy: A Multicenter Study from Türkiye
Gamze Sarıkaya Uzan, Deniz Yüksel, Erhan Aksoy, Ülkühan Öztoprak, Mehmet Canpolat, Selcan Öztürk, Çelebi Yıldırım, Ayten Güleç, Hüseyin Per, Hakan Gümüş, Çetin Okuyaz, Meltem Çobanoğulları Direk, Mustafa Kömür, Aycan Ünalp, Ünsal Yılmaz, Ömer Bektaş, Serap Teber, Nargiz Aliyeva, Nihal Olgaç Dündar, Pınar Gençpınar, Esra Gürkaş, Sanem Keskin Yılmaz, Seda Kanmaz, Hasan Tekgül, Ayşe Aksoy, Gökçen Öz Tuncer, Elif Acar Arslan, Ayşe Tosun, Müge Ayanoğlu, Muhittin Bodur, Bülent Ünay, Semra Hız Kurul, Uluç Yiş
289 A Rare Complication of COVID-19 in a Pediatric Patient; Acute Transverse Myelitis
Nefise Arıbaş Öz, Esra Gürkaş, Nesrin Ceylan, Meryem Hilal Altaş, Ayla Akca Cağlar, Aslınur Özkaya Parlakay
290 Neurodegeneration with brain iron accumulation in 18 Indian families: a case series highlighting phenotypic and genotypic diversity
Amita Moirangthem, Haseena Sait, Somya Srivastava, Manmohan Pandey, Deepak Ravichandran, Anju Shukla, Kausik Mandal, Deepti Saxena, Arya Shambhavi, Purvi Majethia, Lakshmi Priya Rao, Suvasini Sharma, Shubha Phadke
291 A novel combined heterozygous mutation in the PLA2G6 gene associated with early-onset Parkinson’s disease
İlknur Erol, Elif Perihan Öncel , Mehmet Fatih Dilen, Şeyda Beşen, Leman Tekin Orgun, Atıl Bişgin, Sevcan Tug Bozdoğan, Özlem Alkan
292 A Rare Cause of Developmental Epileptic Encephalopathy: D-Bifunctional Protein Deficiency with a Novel Pathogenic Variant
Cemile Busra Olculu, Erdem Simsek, Sanem Yilmaz, Seda Kanmaz, Hepsen Mine Serin, Ayca Aykut, Asude Durmaz, Hasan Tekgul
293 Electro-clinical spectrum of Absence epilepsy: A case series from India
Romit Jain, Ramesh Konanki, Sagar Sukapatla, Dashratha Ramiah, Lokesh Lingappa
295 Evaluation of Psychomotor, Behavioral and Sensory Development in Hypoxic Ischemic Encephalopathy Patients
Selin Akyüz Oktay, Kıvılcım Gücüyener, Azime Şebnem Soysal Acar
296 Reversible Leigh’s-like brain abnormalities with Vigabatrin: A Case Series
Surbhi Gupta, Ramesh Konanki, Nihaal Reddy, Lokesh Lingappa
297 Evaluation of clinical, laboratory, and imaging findings of patients with the diagnosis of Pontocerebellar Hypoplasia: A multicenter national study
Dilek Cavusoglu, Gulten Ozturk, Dilsad Turkdogan, Semra Hiz Kurul, Uluc Yis, Mustafa Komur, Faruk Incecik, Olcay Unver, Cengiz Dilber, Gulen Gul Mert, Cagatay Gunay, Gamze Sarikaya Uzan, Ozlem Ersoy, Serdar Mermer, Gokcen Oz Tuncer, Olcay Gungor, Gul Demet Kaya Ozcora, Ugur Gumus, Ozlem Sezer, Gokhan Ozan Cetin, Turkan Sahin, Arzu Yilmaz, Gurkan Gurbuz, Ahmet Cevdet Ceylan, Serdar Ceylaner, Joseph G Gleeson, Dilara Fusun Icagasioglu, F. Mujgan Sonmez
298 A Mutation in Neurodegeneration with Brain Iron Accumulation – Two Brothers
Seren AYDIN, Gökçen ÖZ TUNÇER, Özlem YAYICI KÖKEN, Büşranur ÇAVDARLI, İnci GÜNGÖR, Ayşe AKSOY
300 Early-onset spontaneously relieved spasms of infancy in sleep: electroclinical characteristics and differential diagnoses
qiao hu, shuang liao
301 Setting up of a standard of care for children with spinal muscular atrophy at a tertiary care center in North Kerala: South India
Smilu Mohanlal, Aarthi Balaji, Pramod Sudarshan, Mahendra verma, Vinitha Vijayaraghavan, Satish Kumar, Manjula Anand, Suresh Kumar, Sneha Shaji
302 BROAD SPECTRUM MICRONUTRIENT SUPPLEMENTATION IN THE MANAGEMENT OF ADHD: A CLINICAL TRIAL AND SYSTEMATIC REVIEW
Maureen Njoroge, Samson Gwer
303 Idiopathic Hemiconvulsion Hemiplegia Epilepsy (IHHE) in an 8 yr old boy
Mahesh Kamate, Bhavana Koppad, Virupaxi Hattiholi
304 Stroke secondary to thoracic outlet syndrome, treated successfully with thrombolytics and thrombectomy in a teenager: a case report
Dhanalakshmi Angappan, Artur Riddle, Jenny Wilson
305 DRUG RESISTANT EPILEPSY AND ASSOCIATED FACTORS AMONG CHILDREN WITH EPILEPSIES IN TANZANIA, A CROSS SECTIONAL STUDY
Obrey Urio, Helga Naburi, EDWARD KIJA
306 Acute Cerebellit: Is it always benign?
Pembe Gültutan, Aylin Babuççu, Şükriye Yılmaz, Aslınur Özkaya Parlakay, Aydan Değerliyurt, Hamit Özyürek
307 Diagnostics, clinical and genetic characteristics of Duchenne muscular dystrophy in Kazakhstan
Bakhytkul Myrzaliyeva, Marzhan Lepessova
308 Comparison of 3D Printing Techniques with Patient-Specific Models for Epilepsy Surgery
Ishaan Kumar, Abhi Khapuria, Chip Bobbert, Muhammad Shahzad Zafar, Bilal Berke Ayvaz
310 Clinical Experience of gene replacement therapy in children with Spinal Muscular Atrophy: A single center retrospective study of 25 children
NIDHEESH CHENCHERI, Haitham Elbashir , Gail Alexander
311 Prematurity and Postnatal Neurological Sequelae
Wahed
312 Wasting Syndrome is a predictor of early death in Spastic Cerebral Palsy
Wahed Wahed
315 The Impact of Epilepsy on Sleep Characteristics in Epileptic Adolescents and their Caregivers
İpek Dokurel Cetin, Birsen Senturk, Sezen Kose, Gul Aktan, Seda Kanmaz, Mine Serin, Sanem Yılmaz, Sarenur Gokben, Hasan Tekgul
316 Is There a Relation Between Hippocampal Measurements and Childhood Idiopathic Generalized Epilepsy?
Hilal Altas, Özge Dedeoğlu, Manolya Panpallı, Başak Gülleroğlu, Seçil Ekşioğlu, Neşe Çıtak Kurt
317 Clinico-Etiological Spectrum of Children with Bilateral Basal ganglia lesions: An Observational Study from A Tertiary Care Centre
DASARATHA RAMAIAH JINKA, LOKESH LINGAPPA, RAMESH KONANKI, NIHAAL REDDY
318 Three Different Phenotypic Presentations of Leigh Syndrome
Seren AYDIN, Gökçen ÖZ TUNÇER, Özlem SEZER, Aslıhan SANRI, Gülbahar KURT BAYIR, Ayşe AKSOY
321 OUTCOME OF REFRACTORY STATUS EPILEPTICUS IN CHILDREN
Javeria Raza, Tipu Sultan, Areeba Wasim, Zia Rehman
323 Mitochondrial disorders: a descriptive study of a Tunisian pediatric series
Abir Zioudi, Ichraf Kraoua, Thouraya Ben Younes, Hanene Benrhouma, Hedia Klaa, Najoua Miladi, Ilhem Ben Youssef-Turki
324 Fatty Acid Hydroxylase associated Neurodegeneration (FAHN) – A case report from India highlighting its heterogenous nature.
Ami Shah, Neeta Naik
325 Association Between Sleep Problems and Perinatal Factors and Maternal Psychopathology in Toddlers at Risk for Autism
Bilgihan Bikmazer, Alperen Bikmazer, Esra Altinbilek, Beyza Fetanet Gürel, Fulya Bakır, Vahdet Gormez
326 Neonatal Amplitude Integrated EEG (aEEG): Contribution to Clinical, Etiologic, and Prognosis
ilknur cankurt, Ebru Arhan, Recep Kamil Kılıç, Esra Serdaroğlu, Ercan Demir, Tuğba Hirfanoğlu
327 PRE-SURGERY PHASE 1 EVALUATION RESULTS AND CONTRIBUTION TO SURGERY IN PEDIATRIC PATIENTS WITH DRUG-RESISTANT EPILEPSY
İlknur Cankurt, Tuğba Hirfanoğlu, Recep Kamil Kılıç, Esra Serdaroğlu, Ercan Demir, Ayşe Serdaroğlu, Ebru Arhan
328 Cystic Leukoencephalopathy; a confusing neuroimaging feature!
Zahra Rezaei, Mahmoud Mohammadi
329 Exploration of serum B vitamin levels in children with ADHD and their correlation with clinical symptoms
Fan Zhang, Min Zhang, Yike Zhu, Siqi Liu, Yongying Ren, Xin Wang, Lin Wang, Jian Yang
330 A RARE GLUT 1 DEFICIENCY SYNDROME PRESENTING WITH SPEECH DELAY
ESRA SARIGECILI, FATMA DERYA BULUT
331 Clinical and molecular spectrum of tuberous sclerosis complex in a regional cohort: an efficacy and outcome study with antiseizure medication plus mTOR inhibitor therapy
Meltem Orbay, Hepsen Mine Serin, Seda Kanmaz, Esra Isik, Tahir Atik, Ozgur Cogulu, Ferda Ozkinay, Sanem Yılmaz, Gul Aktan, Sarenur Gökben, Hasan Tekgül
332 Two Cases of ACTL6B Mutation-Associated Epileptic Encephalopathy
Canan Üstün, Mutluay Arslan, Deniz Torun, Ayşe Nur Coşkun, Özgen Hür, Bülent Ünay
333 The ketogenic diet for Dravet syndrome: a multi-center retrospective study
Mei Yu, Hua Li, Dan Sun, Dan Li, Jianmin Zhong, Qiang Gu, Shaoping Huang, Rong Luo, Dengna Zhu, Baoqiang Yuan, Baomin Li, Nong Xiao, Yucai Chen, Yuqin Zhang, Jurong Wei, Yuwu Jiang, Jianxiang Liao, Jiong Qin
334 Genotypic phenotypic charecteristics of galactosemia in postneonatal age in western India
Harshuti shah, Zachray Grinspan
335 An Aicardi-Goutieres Syndrome 2 Case
Canan Üstün, Mutluay Arslan, Ali Öztuna, Ayşe Nur Coşkun, Özgen Hür, Bülent Ünay
336 Clinical Evaluation Of The Vestibular Functions In Pediatric Patients With Migraine And Probable Vestibular Migraine Of Childhood
Ela Cömert, Nesrin Şenbil, Buğra Şimşek, Elif Çetinkaya
337 Study of 15 patients with early infantile neurometabolic epileptic encephalopathy-treatable etiologies
Rajvee shah, Harshuti Shah
338 CDKL5 Mutation-Associated Epileptic Encephalopathy Case
Canan Üstün, Mutluay Arslan, Ali Öztuna, Ayşe Nur Coşkun, Özgen Hür, Bülent Ünay
339 Effectiveness of zonisamide in childhood refractory epilepsy
Mahmut Aslan, Serdal Gungor
340 Mutations of The E3 Beta Subunit of The Pyruvate Dehydrogenase (PDH) Complex Gene: A Case Report
Gülbahar KURT BAYIR, Gökçen ÖZ TUNÇER, Seren AYDIN, Aslıhan Sanrı, Ayşe AKSOY
341 Two Different Phenotypes Caused by Mutation in the EARS2 Gene in Two Siblings
Gülbahar KURT BAYIR, Gökçen ÖZ TUNÇER, Seren AYDIN, Aslıhan Sanrı, Ayşe AKSOY
342 A Case of Dup15q Syndrome Presenting with WEST Syndrome
Canan Üstün, Mutluay Arslan, Ayşe Nur Coşkun, Özgen Hür, Bülent Ünay
343 A Case of OTUD6B-Related Disorder
Gülbahar KURT BAYIR, Gökçen ÖZ TUNÇER, Seren AYDIN, Aslıhan Sanrı, Ayşe AKSOY
347 Caffeine significantly reduces frequency of Paroxysmal Dyskinesia in a child with an ADCY5 Mutation
SUKANYA VRUSHABHENDRA, MOHAMED BABIKER
348 Case report: Potassium sodium-activated channel subfamily T member 1 gene mutation related epilepsy.
Nuriye Ayca Gul, Emek Uyur Yalcın, Nilufer Eldes Hacıfazlioglu, Derya Guder, Bilgihan Bikmazer
350 Pontocerebellar Hypoplasia Associated With TTC 1 Mutation: Case Series
Gamze Sarıkaya Uzan, Ece Sönmezler, Semra Hız Kurul, Çağatay Günay, Yavuz Oktay, Rita Horvath, Hanns Lochmüller, Uluç Yiş, Ahmet Yaramış
351 Cerebral microstructural changes in children suffering from hemolytic uremic syndrome
Eva Bültmann, Antonia Zapf, Hans Joachim Mussgnug, Heinrich Lanfermann, Nele Kanzelmeyer, Hans Hartmann
352 Paediatric anti-gamma aminobutyric acid-B receptor encephalitis with benign prognosis
Liu Liu, Yeping Wang, Feng Gao
353 SLC2A1 mutations associated Glucose Transport Type 1 Deficiency Syndrome: A Single Center Case Series
Elif Perihan Öncel , Talip Sayar, Şeyda Beşen, Leman Tekin Orgun, Neslihan Önenli Mungan, İlknur Erol
354 Ketogenic Diet Therapy for Drug-resistant Epilepsy and Cognitive Impairment in Children with Tuberous Sclerosis Complex
Yu Fang, Dan Li, Man Wang, Hua Li, Lifei Yu, Xia Zhao, Jing Duan, Qiang Gu, Baomin Li, Jian Zha, Daoqi Mei, Guangbo Bian, Man Zhang, Huiting Zhang, Junjie Hu, Liu Yang, Jianxiang Liao
355 The Effect Of Levetiracetam Therapy On Electrocardiography Parameters
Hilal Aydin, Oguzhan Korkut
356 Clinical and electroencephalographic characteristics of childhood epilepsy with centrotemporal spikes for antiseizure medications: monotherapy versus dualtherapy in a multicenter cohort study
Beril Dilber, Esra Serdaroğlu, Seda Kanmaz, Betül Kılıç, Deniz Kargın Menderes, Rojan İpek, Ebru Petek Arhan, Ayşe Serdaroğlu, Çetin Okuyaz, Yasemin Topçu, Kürsad Aydın, Hasan Tekgül, Ali Cansu
358 Infantile Neuroaxonal Dystrophy; A Rare Or Underdiagnosed Disease?
Zahra Rezaei, Mahmoud Reza Ashrafi, Morteza Heidari, Ali Reza Tavasoli, Ali Zare Dehnavi, Maryam Rasulinezhad
359 Hippotherapy in children with cerebral palsy
Kursat Bora Carman, Ibrahim Serdar Kaçar, Enis Kazim Sezgin, Cafer Yildirim, Sukru Torun, Mina Akbay, Coskun Yarar, Arife Derda Yucel Sen, Mehtap Turkmenoglu, Ugur Bilge
360 LİMBE GİRDLE MUSCULAR DYSTROPHY WİTH A MUTATİON İN THE CAVEOLİN-3 (CAV-3) GENE
Derya Guder, Nilufer Eldes Hacifazlioglu, Emek Uyur Yalcin, Bilgihan Bikmazer, nuriye ayca gul
361 A report of a rare syndrom: Alazami Syndrom
Irmak Erdoğan, Nihal Olgaç Dündar, Pınar Gençpınar, Rabia Meral, Bumin Dündar
362 Continuous spikes and waves during sleep (CSWS): A Descriptive Clinical-epidemiological Profile from India
Aakanksha Anand, Suvasini Sharma
363 A RARE CAUSE OF AUTISM AND EPILEPSY COMBINATION: GRM7 GENE MUTATION
Derya Guder, Emek uyur yalcin, nilufer eldes hacifazlioglu, Bilgihan Bikmazer, nuriye ayca gul
364 STURGE WEBER SYNDROME WITH PHAKOMATOSIS PIGMENTOVASCULARIS: A CASE REPORT
Aakanksha anand, Suvasini Sharma, dipti kapoor
365 A Rare Mitochondrial disease; Naxe Gene Mutation
Hale Atalay Celik, Zeynelabidin Ozturk, Abdullah Sezer, Erhan Aksoy, Deniz Yuksel
366 COMPARISON OF CORTİCOSTEROİDS VERSUS CLOBAZAM TREATMENT OF EPİLEPTİC ENCEPHALOPATHY WİTH ELECTRİCAL STATUS EPİLEPTİCUS FOR ELECTROCLINICAL REMISSION
ilknur cankurt, Tuğba Hirfanoğlu, Recep Kamil Kılıç, Esra Serdaroğlu, Ercan Demir, Ayşe Serdaroğlu, Ebru Arhan
369 ALPHA-FŒTOPROTEINE PROGNOSIS VALUE IN PATIENTS MONITORING WITH ATAXIA-TELANGIECTASIA
Salma Zouari Mallouli, Sabrina Mejdoub, Olfa Jallouli , Sawssan Feki, Wafa Bouchaala, Hend Hachicha, Sihem Ben Nsir, Fatma Kamoun Feki, Hatem Masmoudi, Chahnez Charfi Triki
370 Safety, tolerability and efficacy of widely available nusinersen program in children with Spinal Muscular Atrophy.
Katarzyna Kotulska, Maria Mazurkiewicz-Bełdzińska, Anna Kostera-Pruszczyk
371 GENETIC LANDSCAPE OF CONGENITAL MUSCULAR DYSTROPHIES(CMD) FROM CENTRAL AEGEAN PART OF TURKEY
Didem Soydemir, Berk Özyılmaz, Ipek Polat, Pinar Edem, Gamze Sarıkaya Uzan, Figen Baydan, Semra Hiz Kurul, Sebahattin Çirak, Uluc Yis
372 Reactivation of HSV-1 Encephalitis in an Infant Within One-Month of Completing Acyclovir Treatment: A Case Study
Andrew Hey, Jaime Shoup, Vinay Puri
373 THE RELATİONSHİP BETWEEN FİRST TRİMESTER MATERNAL SERUM PAPP-A LEVEL AND POSTNATAL NEUROLOGİCAL DEVELOPMENT LEVEL
Recep Kamil Kilic, Tugba Hirfanoglu, Deniz Menderes, Esra Serdaroglu, Cem Terece, Mehmet Zeki Taner, Ayse Serdaroglu, Ercan Demir, Ebru Arhan
374 Progressive encephalopathy due to SLC1A4 mutations in two non Ashkenazi Brazilian siblings.
Sergio Rosemberg, Dirce Takako, Fernando Arita
375 Construction of an introductory curriculum for new child neurology and neurodevelopmental disabilities trainees
Alexandra Santana Almansa, Christina Briscoe Abath, Agnieszka Kielian, Aristides Hadjinicolaou
376 Filamin A associated periventricular nodular heterotopia presenting with mutism
Chew thye Choong, Saumya Shekhar Jamuar
377 Broad Autism Phenotype Questionnaire— Translation and Validation in a South Indian language followed by pilot study
Soumya Sundaram, P Sandhya , Betsy Baby , Raviprasad Varma, Shobha Meera
379 Ictal Nose Wiping in Frontal-Onset Absence Epilepsy; A case report
FATMA KUSGOZ, IRMAK ERDOGAN, NIHAL OLGAC DUNDAR, PINAR GENCPINAR
380 Xp22.33-p11.4 Duplication and 46, X+mar gonadal dysgenesis in a Patient with Epilepsy, Dysmorphisms, Hypotonia and Intellectual Disability, A case report
FATMA KUSGOZ, NIHAL OLGAC DUNDAR, OLGAY BILDIK, BERK OZYILMAZ, MELIS KOSE, PINAR GENCPINAR
381 VIRAP - new randomized, double-blind, preventive study (vigabatrin vs sirolimus) on prevention of epilepsy in TSC
Sergiusz Jozwiak, Katarzyna Kotulska
383 Early recurrent encephalopathy and subsequent hemiplegic migraine and intellectual disability caused by a de novo mutation in ATP2A2 gene
Ali Modaweb, Ahmed Abd Alwahab Nugud, Maha AlAli, Mohamed OE Babiker
384 A case of dopa responsive dystonia due to compound heterozygous TH gene mutation in a Turkish Girl.
Serdar Saritas, Oguzhan Yarali, Nihal Aydin, Mustafa Onur Yildiz, Mehmet Burak Mutlu
386 Anterior spinal artery syndrome due to fibrocartilaginous embolism – case report and treatment options
Christian Menke, Ivonne Wieland, Sabine Illsinger, Eva Bültmann, Hans Hartmann
387 TBC1D24 gene Mutations Presented with Familial Infantile Myoclonic Epilepsy
Nefise Arıbaş Öz, Nesrin Ceylan, Abdüllatif Bakır, Hamit Özyürek
388 Efficacy and Safety of the Ketogenic Diet for Mitochondrial Disease with Epilepsy: A Prospective Controlled Study
Lijuan Huang, Hua Li, Jianmin Zhong, Liming Yang, Guohong Chen, Dong Wang, Guo Zheng, Hong Han, Xiong Han, Yiqin Long, Xu Wang, Jianmin Liang, Mei Yu, Xiaoyun Shen, Mengke Fan, Fang Fang, Jianxiang Liao, Dan Sun
389 A case of ‘Joubert Syndrome 31’ due to CEP120 homozygous mutation
Özgen Hür, Ayşe Nur Coşkun, Canan Üstün, Mutluay Arslan, Deniz Torun, Bülent Ünay
393 Clinical and genetic study of rare cases with coexistence of dual genetic diagnoses
Dandan Tan, Yidan Liu, Danyu Song, Hui Xiong
394 Acute transverse myelitis related to BNT162b2 vaccine in a teenage girl
Cengiz Dilber, Sedef Terzioğlu Öztürk, Hande Dilber, Şeyma Demiray, Nursel Yurttutan, Sadık Yurttutan, Şükrü Güngör
396 Human Herpes Virüs-7 Enfeksiyonu Sonrası Gelişen Subakut Sklerozan Panensefalit Olgusu
Ezgi Günce NURAL KIRCI, Oğuzhan SERİN, Özge BALCI, Tutku TAŞKINOĞLU, Arzu YILMAZ, Fatma Müjgan SÖNMEZ
399 A rare presentation characterized by epileptic spasms in ALDH7A1, pyridox(am)ine-5’-phosphate oxidase (PNPO), and PLPBP deficiency
Xianru Jiao, Pan Gong, Yue Niu, Yuehua Zhang, Zhixian Yang
400 The clinical features and long-term follow-up of vitamin B6-responsive infantile spasms in a Chinese cohort
Xianru Jiao, Pan Gong, Yue Niu, Zhao Xu, Ye Wu, Yuehua Zhang, Zhixian Yang
401 Diagnostic yield of Whole Exome and Whole Genome Sequencing in pediatric neurological disorders. A UAE Tertiary hospital experience
Bushra Alattas, Majid Aziz
404 Focal cortical dysplasia type II related to a new pathogenic gene-RAB6B
Xiao Li, Kai Gao, Qingzhu Liu, Ye Wu, Lixin Cai, Yuwu Jiang
405 Ketogenic diet for 134 cases of SCN1A related drug-resistant epilepsy
Yu Fang, Man Wang, Hua Li, Jianmin Zhong, Juan Wang, Xiuxia Wang, Ciliu Zhang, Jiwen Wang, Fang Yuan, Lifen Duan, Suli He, Rong Luo, Dan Sun, Zhe Tao, Dong Wang, Hua Wang, Zhifeng Wu, Guang Yang, Hongwei Zhang, Guo Zheng, Jianping Zhu, Zhihong Zhuo, Jianxiang Liao
407 Electro-clinic features and outcome in children with “pure” epilepsy with myoclonic atonic seizures (EMAS)
Hasan Tekgul, Hepsen Mine Serin, Muzaffer Polat, Gül Aktan, Ayşe Tosun, Sarenur Gökben
410 Can the gut microbiota be a guide in the diagnosis and treatment of childhood epilepsy?
Sevim Türay, Şengül Cangür, Gözde Kahraman, Eda Kayabaşı, Ömer Faruk Çetiner, Burak Aydın, Cihadiye Elif Öztürk
411 COVID-19 vaccine induced opsoclonus-myoclonus-ataxia syndrome
Adnan Deniz, Defne Alikılıç, Merve Öztürk, Ömer Karaca, Mesut Güngör, Bülent Kara
412 Variation in neuroimaging and outcomes in patients with SWS type III
Aristides Hadjinicolaou, Aisling Quinlan, Sanjay Prabhu, Anna Pinto
413 Paraneoplastic polyneuropathy associated with inflammatory myofibroblastic tumor in a pediatric patient
Adnan Deniz, Defne Alikılıç, Merve Öztürk, Ömer Karaca, Mesut Güngör, Ugur Demirsoy, Bülent Kara
414 A Case of GRIN1 Mutation Presenting with Autistic Features
Özgen Hür, Mutluay Arslan, Deniz Torun, Bülent Ünay
415 12-Year Surveillance Results of Acute Flask Paralysis Cases in Southeast Turkey and the Effect of Refugee Movements on Surveillance Results
Nezir Özgün, Gülnaz Kubat, Birgül Turan, Mert Özgün, İzzettin Toktaş, Gülay Korukluoğlu
416 SHEAR WAVE ELASTOGRAPHY IN PATIENTS WITH SPINAL MUSCULAR ATROPHY TYPE 2-3
BURCIN NAZLI KARACABEY, ZUHAL BAYRAMOGLU, ORHAN COSKUN, ZEYNEP NUR AKYOL SARI, MELIS ULAK OZKAN, EDIBE PEMBEGUL YILDIZ, MINE CALISKAN
417 Missense variants in RHOBTB2 in a patient with developmental and epileptic encephalopathy and paroxysmal movement disorder
HYO JEONG KIM
418 Neonatal-onset epilepsy: Clinico-etiological spectrum and developmental outcomes
Prasanthi Aripirala, Lokesh Lingappa, Ramesh Konanki
419 A case of ‘Smith Magenis Syndrome’ with self-injurious behaviors and dysmorphic facial
Özgen Hür, Ayşe Nur Coşkun, Canan Üstün, Mutluay Arslan, Deniz Torun, Bülent Ünay
420 Features of a male with MACF1 mutation suffered from West syndrome:a case report and literature review
Linjie Jiang, Jun Hu
422 An autosomal dominant familial dyskinesia gene: ADCY5 mutation
Özgen Hür, Canan Üstün, Ayşe Nur Coşkun, Mutluay Arslan
423 Post COVID anti-NMDAR Encephalitis in an adolescent girl
Javeria Alvi, Tipu Sultan, Muhammad Sultan
424 A rare phenotype of congenital muscular dystrophy: 'Muscular dystrophy-dystroglycanopathy type B,1'
Özgen Hür, Canan Üstün, Ayşe Nur Coşkun, Mutluay Arslan, Deniz Torun, Bülent Ünay
425 A rare cause of progressive myoclonic epilepsy: KCTD7 mutation
Özgen Hür, Canan Üstün, Ayşe Nur Coşkun, Mutluay Arslan, Deniz Torun
427 The Yield of Genetic and Metabolic Testing in Epileptic Spasms
Mohammed Azib M AlQahtani, Raidah Albaradie, Yousef Housawi, Fawzia Amer, Wajd AlOtaibi, Gregory Costain, Liali Aljouda, Shahid Bashir, Ali Mir
428 Clinical and genetic characteristics of PCDH19-related epilepsy syndromes:differences between East-Asians and European-Americans
Liu Liu, Yu Shen, Feng Gao
429 A Comprehensive, Personalized, Medically Based Care Model Improves Adaptive Behavior Outcomes in Autism vs Standard of Care
Annie Brandes-Aitken, Ernesto DiMarino, Elysa Marco, Neil Hattangadi, Kevin Shapiro
430 PSEUDO-TORCH- A rare mutation causing global development delay, microcephaly and extensive band like brain calcification
Javeria Alvi, Tipu Sultan, Mahrukh Sultan, Saher Ahdi
432 Bone Health in Children with Spinal Muscular Atrophy
Joanna Yuet-ling Tung, Sophelia Hoi-Shan Chan
433 A prospective observational study to determine difference in motor developmental outcomes & effect of early intervention in Full Term vs. Late Preterm neonates using INFANIB.
Vrushabh Gavali, Shilpa Kulkarni, Prasoon Bansal
434 Paroxysmal sympathetic hyperactivity in Pediatric Tuberculous meningitis: A New association
Sonali Singh, Prashant Jauhari, Rahul Sinha, Gautam Kamila, Agam Jain, Sakshi Ojha, Mohana Sundaram S.M, Atin Kumar, Biswaroop Chakrabarty, Sheffali Gulati
435 Phenotypic diversity of 15q11.2 copy number variants: a case series and review of the literature
Gunce Basarir, Irmak Erdogan, Nihal Olgac Dundar, Berk Ozyilmaz, Pinar Gencpinar
436 CLINICAL UTILITY OF NEXT GENERATION SEQUENCING IN NEURODEVELOPMENTAL DISORDERS —EXPERIENCE FROM A TERTIARY CARE CENTRE
KARTHIKA AJIT VALAPARAMBIL, SOUMYA SUNDARAM, RAMSHEKAR MENON
438 A rare cause of hypotonia, arthrogryposis, and early-onset scoliosis: Autosomal recessive PIEZO2-associated neuromuscular disease
Didem Ardicli, Aydan Degerliyurt, Ahmet Cevdet Ceylan
440 Genetic spectrum of Developmental and Epileptic Encephalopathies
Madhavi Shelke, Varsha vaidya, suvarna Magar, Shirish Bhartiya, Sandip Saraf
441 A Case of Childhood Onset Dystonia Due to KMT2B Gene Mutation
Ayşe Nur Coşkun, Canan Üstün, Özgen Hür, Mutluay Arslan, Deniz Torun, Bülent Ünay
442 Intractable epilepsy due to cerebellar ganglioneural hamartoma: Evidence for seizures originating from cerebellum
Sanem Yilmaz, Cemile Busra Olculu, Aylin Oral, Erdem Simsek, Omer Kitis, Seda Kanmaz, Zeynep Burak, Hepsen Mine Serin, Gul Aktan, Hasan Tekgul, Sarenur Gokben, Burcak Bilginer
443 Charcot-Marie-Tooth Disease, So Which Type?
Ayşe Nur Coşkun, Canan Üstün, Özgen Hür, Mutluay Arslan, Deniz Torun, Bülent Ünay
444 Spinal muscular atrophy with lower extremity-predominant (SMA-LED)
Surbhi Gupta, Ramesh Konanki, Lokesh Lingappa
446 Metabolic Stroke; A Rare Clinical Condition of Glycerol Kinase Deficiency
HALE ATALAY CELİK, Ismail Solmaz, Erhan Aksoy, Mutlu Uysal Yazici, Kader Oguz
447 Basal ganglia germinoma in an adolescent: A case report
Anish Ainapure, Shilpa Kulkarni, Foram Gala, Shubham Kaudinya
448 Identification of a novel variant of the CDKl5 gene associated with atypical Rett Syndrome
Arijit Chattopadhyay, Dipanjana Datta, Asimayan Nandi
449 THE COURSE OF PEDIATRIC HEADACHES DURING COVID-19 PANDEMIC
Secil Doga Tunc, Mehmet Gunduzalp, Ayse Yasemin Celik , Hamit Ozyurek, Ozlem Yayici Koken, Esra Gurkas, Aydan Degerliyurt, Aysegul Nese Citak Kurt
450 Quality Improvement Project to ameliorate the provision of mental health support to our children with epilepsy
Sharmila Manivannan, Usha Rajalingam, Philip AMATO GAUCI, Nicki Astle , Nadira Maharaj, Una Frederick, Martin Smith
451 Progressive Mitochondrial Leukoencephalopathy in a one and half year-old boy: A Case Report
Anish Ainapure, Shilpa Kulkarni, Foram Gala, Shubham Kaudinya
452 MRI pattern recognition of neuroceroid lipofuschinosis in children
Mahesh Kamate, Mayank Detroja, Bhavana Koppad, Virupaxi Hattilholi
453 Duplication 9 p Syndrome; Case Report
müge baykan, NİHAL OLGAÇ DÜNDAR, Berk Özyılmaz , fatma kuşgöz, pınar gençpınar
454 Autosomal recessive spastic ataxia of Charlevoix–Saguenay : Two case reports
Anish Ainapure, Shilpa Kulkarni, Foram Gala, Konika Bansal
455 AN ATYPİCAL CASE OF POST VARİCELLA STROKE İN A CHİLD ASSOCİATED WİTH HYPERHOMOCYSTEİNEMİA AND MTHFR A1298C MUTATİON
Sedef Terzioğlu Öztürk, Nursel Yurttutan, Mehmet Turan, Mehmet Ali Ekenel, Cengiz Dilber
456 Very rare novel DHDDS mutation of infant with severe mental-motor retardation, resistant epilepsy, movement disorder
Hande Gazeteci Tekin, Pınar Edem
457 A Rare Cause of Developmental Epileptic Encephalopathy; UBA5 Gene Mutation
merve hilal dolu, pakize cennetoğlu, ihsan kafadar
458 PROGRESSIVE MYOCLONIC EPILEPSY RELATED TO SEMA6B GENE MUTATION
Hande Dilber, Sedef Terzioğlu Öztürk, Hamdi Kale, Cengiz Dilber
459 Features of epilepsy drug therapy in children with cerebral palsy
Madina Taghiyeva, Aytan Mammadbayli
460 Study of computerized cognitive training technique for treatment of children with attention deficit hyperactivity disorder. A new treatment modality experience.
Hussein AbdelDayem, Salma AbdelDayem
461 VARIATIONS IN CLINICAL PRESENTATION, NEUROIMAGING AND ELECTROENCEPHALOGRAPHIC PATTERNS OF SUBACUTE SCLEROSING PANENCEPHALITIS
Areeba Wasim, Tipu Sultan, Zia Ur Rehman Rehman
462 TRAPPC9-related intellectual disability: report of two new cases
F. Müjgan Sonmez, EYYÜP ÜÇTEPE, Ahmet Yeşilyurt
463 Thiamine Pyrophosphokinase Deficiency in Indian origin Siblings - Expanding the phenotype
Ami Shah, Neeta Naik
464 GAD antibody-spectrum disorders: case report
Maria Shumilina
466 Risk Factors for Seizure Recurrence After Initial Withdrawal of Anti-Seizure Medication in Childhood Epilepsy
Nicholas Odero, Katherine Oyieke, Samson Gwer, Pauline Samia
469 Making it Home on Time: Improving Child Neurology Inpatient Discharge Timing
Ryan Sauer, Kimberly Jones, Sharoon Qaiser
470 Posterior reversible encephalopathy syndrome in children with malignances
Natalia Bronina, Inna Schederkina, Evgenia Seliverstova, Maria Natrusova, Evgeny Burtsev, Kirill Kirgizov, Gleb Bronin
471 EVALUATION OF MOTOR AND SENSORY FUNCTIONS AND PSYCHOLOGICAL PROPERTIES IN CHILDREN WITH HEMIPARETIC CEREBRAL PALSY BETWEEN THE AGES OF 6 AND 16 YEARS
Yilmaz Satirer, Deniz YUKSEL
472 CLINICAL PROFILE OF HEADACHE AMONG CHILDREN ATTENDING EMERGENCY DEPARTMENT AT ALEXANDRIA UNIVERSITY CHILDREN'S HOSPITAL
HANAN AZOUZ, Marwa Abd Elmaksoud, Wafaa Muhammad
473 Pediatric Bow Hunter Syndrome, a case report.
Ángeles Schteinschnaider, Romina Nélida Dominguez, María Sol Voyame , Isaura Gonzalez, Martín Carnevale, Paulina Yañez, Romina Goñi
474 The Case of a 15-year-old Adolescent with Cerebral and Pulmonary Fat Embolism Syndrome without Dermatologic Involvement
Sevcan İpek, Cengiz Dilber, Can Acıpayam, Sedef Terzioğlu Öztürk, Betül Kızıldağ, Nursel Yurttutan
475 Electrical status epilepticus during sleep: A study of 67 patients
Sibel Oz Yildiz, Ceren Günbey, Kader Karlı Oğuz, Gökçen Konuşkan, Göknur Haliloğlu, Dilek Yalnızoğlu
476 Neonatal Spinal Cord Injury: Not To be Missed
Thomas Smith, Dipak Ram
477 Title: Measuring Transition Readiness in Adolescents with Epilepsy: Opportunities and Challenges
Tina Krysiak, Gogi Kumar, Sarah MacDonald, Shawnda Cates
478 Devic's neuromyelitis optica (NMO) or a pediatric onset multiple sclerosis (MS)? A case report
Seyfeddine Baouia
480 A case of mitochondrial neuro-gastrointestinal encephalopathy or MNGIE syndrome, why not?
Seyfeddine Baouia
481 Clinico-radiological spectrum of MOG antibody associated disorder (MOGAD) in Pediatric population.
KONIKA BANSAL, SHILPA KULKARNI, PAYAL SHAH, KOMAL ZANAK
482 Developmental trends and changes in children: Comparing assessment data of Japanese children from 1983 and 2020
Hideyo Goma, Yui Zen
483 Clinical case of acromicric dysplasia syndrome (ACMICD-syndrome)
Zhuldyz Nukebayeva, Ainur Bekitayeva , Marzhan Lepessova , Alma Issabekova
485 A Common Neurologic Symptom Leads To A More Serious Oncologic Diagnosis!
Reza Shervin Badv, Zahra Rezaei, Leili Koochakzadeh, Farzad Kopmani, Mahmoud Mohammadi
486 Clinical, electrophysiological, and neuroimaging predictors for antiseizure medication in infants with neonatal clinical seizures
İpek Dokurel Cetin, Seda Kanmaz, Hasan Tekgul
487 Profile of Neurological manifestations of Covid 19 in a Pediatric hospital in Delhi
Rekha Mittal, Chandrasekhar Singha, Prashant Choudhary, Ankur Ohri
489 Efficacy, safety and tolerability of Gabapentin as monotherapy for dystonic cerebral palsy
Suhani Shah, Vishal Patel, Radhika Agarwal, Nishant Rathod, Anaita Udwadia Hegde
491 Hereditary spastic paraplegia type 26 with a novel mutation in B4GALNT1 gene and literature review of the clinical features
faruk incecik, ozlem m herguner
492 Homozygous mutation in CWF19L1 with recessive ataxia syndrome in a Turkish child
faruk incecik, ozlem m herguner, sevcan t bozdogan
493 Gabapentin: Efficacy and tolerability as adjuvant therapy for dystonic cerebral palsy
Suhani Shah, Vishal Patel, Radhika Agarwal, Nishant Rathod, Anaita Udwadia Hegde
495 Permampenel in Refractory Epilepsy - Investigator initiated study
Lokesh LIngappa, SRIKANTH DURISHETTI
496 Ambulatory blood pressure monitoring in children diagnosed with primary headache
Asiye Bolca, Secil Arslansoyu Camlar, Cemaliye Basaran, Gokcen Erfidan, Gunce Basarir, Pinar Gencpinar, Demet Alaygut, Fatma Mutlubas, Nihal Olgac Dundar, Belde Kasap Demir
497 DE NOVO MUTATION IN SETD1B IS ASSOCİATED WITH INTELLECTUAL DISABILITY, EPILEPSY, AND AUTISTIC BEHAVIOR
Sedef Terzioğlu Öztürk, Hande Dilber, Mehmet Ali Ekenel, Bahtiyar Şahinoğlu, Cengiz Dilber
498 Topiramate alters the erythrocyte osmotic fragility and whole blood viscosity
Ayşe Meltem Sevgili, Pelin Aslan, Sevtap Kılınç, Zeynep Yığman, Hamit Özyürek
499 Levetiracetam as mono-and polytherapy in the treatment of neonatal-onset seizures
Fatma Kusgoz, Gunce Basarir, Defne Engur, Nihal Olgac Dundar, Pinar Gencpinar
500 Funccional testing and rehabilitation of spinal muscular atrophy patients
Biljana Mitrevska, Valentina Koevska, Natalija Angelkova, Ljelja Muaremoska Kanzoska
501 Exploring the genetic basis of Leukodystrophies through an in-house targeted panel approach in resource-poor settings
Arushi Saini, Yashu Sharma, Prateek Bhatia, Naveen Sankhyan, Renu Suthar, Sameer Vyas, Vikas Bhatia, Savita Attri
502 EEG and ONSD in management of hepatic encephalopathy: additional role of EEG in prognosis
Roshan Koul, Seema Alam
503 A Case of Thiamine Metabolism Dysfunction Syndrome-2 With Special Emphasis on Management and Prenatal Genetic Counseling
Prashant Utage, Aparna Prashant Utage, Nadir Aman, Krishnendu Menon, Umesh Bhammarkar
504 Neurological manifestations of lympho-haematopoietic malignancies
Shubham Kaudinya, SHILPA KULKARNI, SONAM KOTHARI, ANISH AINAPURE
505 Atypical presentation of PLAN-associated NBIA
Mahesh Kamate, Bhavana Koppad, Virupaxi Hattiholi
507 Spectrum of co-morbidities and psychopathology in children with Attention-deficit hyperactivity disorder (ADHD): A retrospective study
Sheffali Gulati, Shobha Sharma, Kakali Purkayastha, Gautam Kamila, Arvinder Singh, Sayoni Chowdhury, Puneet Chaudhary, Shivam Pandey
508 Impact of COVID-19 on the care of children with neurometabolic disorders
Yashu Sharma, Arushi Saini, Gunjan Didwal, Rajdeep Kaur
509 RISING SURGE OF SUBACUTE SCLEROSING PANENCEPHALITIS IN PANDEMIC ERA
Shubham Kaudinya, SHILPA KULKARNI, VRUSHAB GAVALI , ANISH AINAPURE
510 CLINICAL PROFILE OF AUTOIMMUNE ENCEPHALITIS IN WESTERN INDIA
Shubham Kaudinya, SHILPA KULKARNI, KONIKA BANSAL
512 A Novel Candidate Gene For Neurodevelopmental Disorders: JKAMP
Enise Avci Durmusalioglu, Esra Isik, Muzaffer Polat, Ebru Canda, Tahir Atik
513 Ataxia oculomotor apraxia type 4 due to a pathogenic variant in PNKP gene
Aydan Değerliyurt, Özge Tanıdır Artan, Hanife Saat
514 Lafora disease: Case report of a 13 years old patient with cognitive decline, ataxia and seizures
Dilek Cebeci, Abdulkadir Tekgoz, Alpay Cetin, Mehmet Nur Talay, Berfin Burak Varanlar, Eşe Eda Turanlı
518 The impact of Nusinersen treatment on scoliosis progression in patients with Spinal Muscular Atrophy
Hoi Ning Hayley Ip, Sophelia Hoi Shan Chan, Kenny Yat Hong Kwan
521 A Rare Cause of Epilepsy In A Child: Mosaic Ring Chromosome 21
Ayşe Yasemin Çelik, Hamit Özyürek, Gulsum Kayhan, Mehmet Ali Ergün, Deniz Yılmaz
522 The effect of anti-epileptic treatment selection on prognosis in traumatic brain injury
Mehmet Oguz Demiroglu, Atilla Ersen, Yigithan Guzin, PINAR GENÇPINAR, NİHAL OLGAÇ DÜNDAR
525 The first case of Streptococcus intermedius brain abscess with hemophagocyic histiocytosis
Jia Zhang, Jing Gan, Xiaolu Chen
526 Vici syndrome: Experience at tertiary care center
Amal Kentab
527 Electromyography in Pediatric Population, A Single Center Experience
Duygu Aykol, Dondu Ulker Ustebay, Cagatay Gunay, Aysen Gok, Onder Karakaya, Semra Hiz Kurul, Uluc Yis
528 Hereditary cerebellar ataxias: descriptive study of a hospital cohort
sihem Ben Nsir, Wafa Bouchaala, Olfa Jallouli, Salma Zouari, Fatma Kamoun, Chahnez Triki
529 Clinico-etiological profile of Acute Encephalitic syndrome from Northern India
Sheffali Gulati, Gautam Kamila, Rama Chaudhry, Lalit Dhar, KM. AARZOO Sirohi, Aakash M, Rishi Sharma, Immaculata Xess, Hitender Gautam, Bimal Das, Bijay Ranjan Mirdha, Pradeep Chaturvedi, Ahmadulla Shariff, javed Ahsan Quadri, Sudip kumar Datta, Thirumurthy Velpandian, seema Kapoor, Uma Kumar, Prashant Jauhari, Biswaroop Chakrabarty
530 Changes in the patient number of viral infections and febrile seizure before and after the COVID-19 pandemic
Jae Min Park, Young Jun Ko, Soo Ahn Chae
532 Clinical Characteristics and Aetiology of Corpus Callosum Abnormalities: A single Centre Experience in Saudi Arabia.
Amal Kentab
533 Nusinersen safety and effects in children with spinal muscular atrophy: a single center experience
Xiaomei Zhu, Chaoping Hu, Hui Li, Shuizhen Zhou, Wenhui Li, Yi Wang
534 The spectrum of specific learning disability and associated co-morbidities in children at a tertiary care center: A retrospective study.
Sheffali Gulati, Shobha Sharma, Kakali Purkayastha, Shivam Pandey, Sayoni Chowdhury, Sachendra Badal, Sanjeeda Khan, Gautam Kamila, Ankit Meena
535 Rufinamide Experience in Childhood Epilepsy from a Tertiary Center, Turkey
MEHMET FATIH BUTUN, MEHPARE SARI YANARTAS, sakir genc, SAIT ACIK, ozgur duman, OZLEM YAYICI KOKEN, Senay Haspolat
536 Clobazam Experience in Childhood Epilepsy from a Tertiary Center, Turkey
Sait Acik, Mehmet Fatih Butun, Sakir genc, Mehpare Sari yanartas, Ozgur Duman, Ozlem Yayici Koken, Senay Haspolat
537 Synthetic adrenocorticotropic hormone for Epileptic Spasms: A Follow up Study in Zhonghe Dist., New Taipei City, Taiwan
Zhao-Qing Lin, Yung-Ting Kuo
538 Investigation of Risk Factors in Neural Tube Defects in Newborns
Nuşabe Abdullayeva, Demet Terek , Mahmut Çelik , Özge Altun Köroğlu, Mehmet Yalaz , Mete Akisu, Nilgün Kültürsay , İsmail Mete İtil
539 Sleep-related difficulties and decreased sleep quality among adolescents with idiopathic intracranial hypertension
Itay Tokatly, Riva Tauman, Noam Senderowich, Raviv Markovitz , Anat Bachar-Zipori , Ainat Klein, Aviva Fattal-Valevski, Moran Hausman-Kedem
540 Neuro-tuberculosis in COVID: Our experience
Shreya Gandhi, Suhani Shah, Sumeet Pawar, Puja Mehta, Viraj Sanghi, Anaita Hegde
541 Parental age, socioeconomic status and parity related with the clinical phenotypes in children with autism spectrum disorder
Wen-Xiong Chen, Xian Liu, Zhi-Fang Huang
542 Children with Tuberous Sclerosis Complex (TSC) on Ketogenic diet therapies: Outcome of a retrospective cohort
Sheffali Gulati, Anuja Agarwala, Vishal Sondhi, Vaishakh Anand, Ankit Kumar Meena, Kanak Lata Gupta, Aakash M
543 Uridine-responsive epileptic encephalopathy: precision treatment across the age spectrum
Gurdeep Sekhon, Christin Eltze, Usha Kini, Sarah Hughes, Ana Pérez Caballero, James Davison, Martin Smith, Amy McTague
545 Clinical characteristics of 50 cases of cerebral cystic necrosis in children
Lijuan Fan, Rong Luo, Xiaolu Chen
546 Spinal Muscular Atrophy with Two SMN2 Copies and Preserved Deep Tendon Reflexes: An Extremely Rare Case
ELİF ACAR ARSLAN, ARZU ERDEN, NİHAL YILDIZ, PINAR ÖZKAN KART, NURHAYAT KORKMAZ
547 A Comparative Study On The Risk Of Seizure In Children During The Delta And The Omicron variants of SARS-COV-2 Infection
Varghese Abraham, Abhijith M, Isac Mathai M, M A Mathew, George Noble E, Susan Cherian, Deepa Unnikrishnan T, Abraham Paulose, Reenu Raju, Simi Varghese P, Jensi Achamma George
548 A Rare Neurological Manifestation of Coronavirus Disease 2019 (COVID-19) in a Single Reference Center: Ramsay Hunt Syndrome
Çiğdem Genç Sel, Osman Karslı
549 A Retrospective Case Series of Indian Children With Homozygous RNASEH2B Mutations Presenting As ‘Cerebral Palsy’ Mimic
Rahul Badheka, Drushi Patel, Sanjiv Mehta, Nitish Vora, Lokesh Lingappa, Siddharth Shah
550 Cases with Seizures During Routine Video Electroencephalography: Clinical and Electroencephalographic Characteristics
Aysen Gok, Cagatay Gunay, Duygu Aykol, Mehmet can Yesilmen, Semra Hız Kurul, Uluc Yis
551 Effects of maternal and early-life anaemia on child brain development: a South African birth cohort study
Catherine Wedderburn, Jessica Ringshaw, Kirsten Donald, Shantanu Joshi, Sivenesi Subramoney, Jean-Paul Fouche, Jacob Stadler, Whitney Barnett, Andrea Rehman, Nadia Hoffman, Annerine Roos, Katherine Narr, Heather Zar, Dan Stein
556 Novel mutation variant in GCH1 gene - a new cause for infantile-onset severe dystonic encephalopathy?
Eugenia Roza, Raluca Ioana Teleanu, Oana Aurelia Vladacenco, Daniela Dorina Vasile, Maria Lupu, Octavian Ioghen
557 Heart Rate Variability in Childhood Benign Rolandic Epilepsy
Özge Tanıdır Artan, Serhat Koca, Gökçe Kaş, Deniz Yılmaz, Esra Gürkaş, Ayşegül Neşe Çıtak Kurt
558 Vascular Endothelial Dysfunction, Cognition and Stroke in Early Life Study (VECSELS)
Maria Vu, Kirstin Walker, Amanda Robertson, Trish Domi, Liza Pulcine, Robyn Westmacott, Nomazulu Dlamini
559 CLINICAL PROFILE OF CONGENITAL MALFORMATIONS OF NERVOUS SYSTEM - IS IT STILL AN ICEBERG???
sindhura P, shiji chalipat, vishwanath kulkarni
560 Efficacy of Ketogenic Diet therapies in Lennox Gastaut Syndrome: A Prospective Cohort Study
Sheffali Gulati, Anuja Agarwala, Vishal Sondhi, Vaishakh Anand, Ankit Kumar Meena, Kanak Lata Gupta, Gautam Kamila, Prashant Jauhari, Biswaroop Chakrabarty
561 The effect of Nusinersen and starting age on the improvement of motor performance in Spinal Muscular Atrophy (SMA): Preliminary results
ARZU ERDEN, ELİF ACAR ARSLAN, MURAT EMİRZEOGLU, NURHAYAT KORKMAZ, NİHAL YILDIZ, PINAR ÖZKAN KART
562 SPTAN1 related epileptic encephalopathy- a case study
Hazem Eltoukhy, Vivek Kalra
563 Successful management of Pediatric-onset Multiple sclerosis with Ocrelizumab
Nisreen Bader , Khurshid Khan, Amal Sherif, Aman Sohal
564 General Movement Assessment for predicting the neurodevelopmental outcomes in cohort of infants exposed to severe hyperbilirubinemia and hypoxic ischaemic encephalopathy respectively in the neonatal period
lokesh Saini, chandana bhagwat, rudresh naik, praveen kumar, naveen sankhyan, arushi gehlot saini, kanya mukhopadhyaya, rajni sharma, christa einspieler, prabhjot malhi
565 Spectrum of genetically determined movement disorder in Indian Cohort
Suhani Shah , Shreya Gandhi, Tarishi Nemani, Nishant Rathod, Anaita Udwadia Hegde
566 Gamma-sarcoglycanopathy (LGMDR5): clinical and genetic study of a pediatric Tunisian cohort
Thouraya Ben Younes, Hanene Benrhouma, Hedia Klaa, Zouhour MILADI, Aida Rouissi, Madiha Trabelsi, Ichraf Kraoua, Najoua Miladi, Ilhem Ben Youssef-Turki
567 POSTERIOR CIRCULATION ARTERIAL ISCHEMIC STROKE IN CHILDREN
PAYAL SHAH, SHILPA KULKARNI, FORAM GALA, KONIKA BANSAL, KOMAL ZANAK
568 The Spectrum of Co-morbidities in children with ASD (Autism Spectrum Disorder): a retrospective study
Sheffali Gulati, Shobha Sharma, Kakali Purkayastha, Gautam Kamila, Arvinder Singh, Sayoni Chowdhury, Ankit Meena, Sonali Singh, Juhi Gupta, Sanjeeda Khan, Arunangshu Bhattacharya, Anushka Rathi
569 Application of advanced molecular technologies in revealing the etiology of intellectual disability – clarification or more questions
Elena Sukarova-Angelovska, Slavica Trajkova, Dragica Nestoroska, Natalija Angelkova, Aneta Demerdzieva, Lejla Kazanoska-Muaremoska
570 Clinical, Biochemical and Genetic analysis of 6 North Indian families: Biotinidase deficiency in 86% of the children
Gunjan Didwal, Arushi Gahlot Saini, Savita Verma Attri
571 Interobserver Reliability of the Turkish Translation of Timed Tests in Duchenne Muscular Dystrophy
ELİF ACAR ARSLAN, ARZU ERDEN
572 Posterior Ocular Structure Parameters by Optical Coherence Tomography Angiography in Pediatric Epilepsy patients
Pembe Gültutan, Pınar Nalçacıoğlu Memiş , Deniz Yılmaz, Mehmet İçöz, Ayşegül Neşe Çıtak Kurt
573 Effect of concurrent anti-seizure medications on the efficacy of the ketogenic diet in children with epilepsy
Suvasini Sharma, Amir Aschner, Nadia Kabir, Elizabeth Donner
574 CLINICO-EPIDEMIOLOGICAL PROFILE OF CHILDREN WITH OPSOCLONUS MYOCLONUS ATAXIA SYNDROME: A DECADE’S EXPERIENCE FROM A TERTIARY CARE CENTRE IN NORTH INDIA
Gautam Kamila, Sakshi Ojha, Sheffali Gulati, Prabhjot Kaur, Kaushik Raghunathan, Prashant Jauhari, Biswaroop Chakrabarty, Vishal Sondhi, Rachna Dubey, Prateek Kumar Panda, Rachana Seth, Sandeep Aggarwal
577 A Child with Cerebral Venous Thrombosis Secondary to COVID 19 Infection Successfully Treated with Thrombectomy
ZEYNEP GÖKÇE GAYRETLİ AYDIN, ELİF ACAR ARSLAN, HASAN DİNÇ
578 Clinical and genetic features of acute deterioration with resulting neurological regression in children with Dravet Syndrome
Neil Atkinson, Amy McTague, Elaine Hughes, Catherine Devile, Christin Eltze, Suresh Pujar
579 Neuroimaging for children with Neurodevelopmental Disorders (NDDs) in the African Population
Aleya Remtulla, Emma Eastman, Deepika Goolab, Este Sauerman, Raphaela Itzikowitz , Brigitte Melly , Charles Newton, Amina Abubakar, Elise Robinson, Kirsten A Donald
580 Biomarkers in children with Autism: A case control Study
Sheffali Gulati, Chinthana L, Gautam Kamila, Thirumurthy Velpandian, Seema Kapoor, Vinod Scaria, Shobha Sharma, Kakali Purkayastha, Sanjeeda Khan, Prashant Jauhari, Biswaroop Chakrabarty, Prateek Kumar Panda, Sudip Kumar Datta, Pradeep Kumar Chaturvedi, R. M. Pandey
583 First Turkish case with UNC80 deficiency
İlknur Erol, Elif Perihan Öncel , Gökçe Yegül Gülnar, Şeyda Beşen, Leman Tekin, Özgür Kütük, Mehmet Oğuz Canan
584 Ante-natal and post-natal factors affecting the rate of growth of corpus callosum in preterm infants: a retrospective study
Dhanalakshmi Angappan, Miguel Morales, Damayanti Raja Murali, Prabhu Parimi
585 Answer to seizures: The pediatric Covid-19 infection
Mehpare SARI YANARTAS, Sait ACIK, Ozlem YAYICI KOKEN, Senay HASPOLAT
586 MPS-like disease presumably caused by VPS16-associated impairment of intracellular trafficking
Jan-Christoph Schoene-Bake, Tobias Haack, Eva Bueltmann, Anibh Martin Das, Hans Hartmann
587 Lacosamide Experience in Childhood Epilepsy from a Tertiary Center, Turkey
Mehpare SARI YANARTAS, Sakir GENC, Mehmet Fatih BUTUN, Sait ACIK, Ozgur Duman, Ozlem YAYICI KOKEN, Senay HASPOLAT
588 Our cases with hypoxic ischemic encephalopathy in which we applied hypothermia
Mehmet Ateş, Demet Terek , Seda Kanmaz , Özge Altun Köroğlu, Sanem Keskin Yılmaz , Mehmet Yalaz , Mete Akisu, Hasan Tekgül
589 The effect of antiepileptic drugs on ischemia modified albumin, myeloperoxidase and catalase levels in children with idiopathic epilepsy
Ayse Yasemin Celik, Deniz Yılmaz, Ayse Kartal, Salim Neselioğlu, Aysegül Nese Cıtak Kurt, Ozcan Erel
590 MLIP-associated myopathy; report of a patient and review of the literature
Fatema Al Amrani, Khalid Al Thihli, Almundher Al-Maawali
591 Autosomal recessive NOTCH3-related leukodystrophy in two siblings and review of the literature
Fatema Al Amrani, Khalid Al Thihli , Amna Al Futaisi
592 A Cause of Severe Hypotonia in Infancy: Allan-Herndon-Dudley Syndrome
Sakir Genc, ozlem yayici koken, sait acik, Senay Haspolat
593 Fuel for Thought – Case series of Beta-Ketothiolase patients presenting with metabolic encephalopathy
Swikaar Panchal, Ami Shah, Lakshmi Shobhavat, Rekha Solomon, Isha Bhagat
594 A rare cause of episodic vomiting: Late-onset multiple acyl-CoA dehydrogenase deficiency as a treatable metabolic myopathy
Ayse Yasemin Celik, Ciğdem Seher Kasapkara, Burcu Civelek Urey, Esra Kılıc, Nesrin Ceylan, Bekir Furkan Yalcın, Didem Ardicli
596 Clarifying missense variants of uncertain significance in CLN6 Batten disease through the use of skin biopsy – a case report
Nicolas Abreu, Laura Biederman, Zarsha Khuhro, Kandamurugu Manickam, Emily de los Reyes
597 Unravelling the diagnostic dilemma – A case series of radiologically diagnosed pontocerebellar hypoplasia.
Ami Shah, Shilpa Kulkarni, Foram Gala, Snehal Mallakmir
598 Health Economic Analysis of Psychology Adding Value Epilepsy Screening (PAVES) - a Screening and Intervention Programme for the Epilepsy Clinic
Zara Hamill, Sarah Whittaker, Kirsten Verity, Jennifer Hislop, Jay Shetty, Ailsa McLellan
600 Real-time cortical excitability in children with DRE and ESES and its correlation with treatment response: A TMS based comparative study
Prashant Jauhari, Rahul Sinha, Gautam Kamila, Ankit Meena, Suman Jain, Biswaroop Chakrabarty, Ravindra Mohan Pandey, Sheffali Gulati
601 The Prevalence of Adenoid Hypertrophy in Brain MRI Examination in Children with Headache in the Pediatric Neurology Outpatient Clinic
SEMRA SAYGI, ÇİĞDEM YALÇIN
602 COVID-19-associated Retrobulbar Neuritis In A Child
SEMRA SAYGI, Oğuzhan Ali Oruz
603 Maturation of the auditory evoke potentials with age: data from a pilot study
Jithangi Wanigasinghe, Chris Pirrung, Isuru Weerasinghe, Isurunee Samarasinghe, Piyadasa Kodituwakku, James Cavanagh, John Phillips
606 A Dynamic Genetic Testing Approachment for Neurological Disorders in The Pediatric Neurogenetic Case-Management Councils
Cemile Busra Olculu, Durdugul Ayyildiz Emecen, Enise Avci Durmuslalioglu, Seda Kanmaz, Esra Isik, Tahir Atik, Erdem Simsek, Hepsen Mine Serin, Sanem Yilmaz, Gul Aktan, Sarenur Gokben, Ozgur Cogulu, Ferda Ozkinay, Hasan Tekgul
607 Subacute Sclerosing Panencephalitis in Children: A Case Series in Dr. Cipto Mangunkusumo Tertiary General Hospital, Jakarta, Indonesia
Irawan Mangunatmadja, Setyo Handryastuti, Amanda Soebadi, Achmad Rafli, Arnesya Pramadyani, Tiara Ayu Murti, Vini Jamarin
608 The Utility of Prognostic Models in Pediatric Guillain Barre Syndrome : A Regional Cohort Study-EGE
Yavuz Ataş, Seda Kanmaz, Cemile Büşra Ölçülü, Tugce Ince, Ozlem Yılmaz, Dilara Ece Toprak, Gürsel Şen, Sanem Yılmaz, Hasan Tekgul
609 Macrocephaly/autism syndrome exhibits neuroradiological abnormalities including Arnold-Chiari syndrome type I: Clinico-radiological spectrum of a PTEN-opathy
Tuğçe Aksu Uzunhan, Bülent Kara, Adnan Deniz , Biray Ertürk, Kürşad Aydın, Pınar Öz, Mehpare Özkan, Betül Kılıç, Deniz Sünnetçi Akkoyunlu
610 MOG ANTIBODY- ASSOCIATED ENCEPHALITIS SECONDER TO COVID 19
Gülcan Akyüz
611 A VERY YOUNG GİRL LİMBİC ENCEPHALİTİS WİTH LGI1 ANTİBODİES
Gülcan Akyüz, Gülten Öztürk, Olcay Ünver, Dilşad Türkdoğan
612 Application of a Recently Proposed Semiological Classification to Psychogenic Nonepileptic Seizures in Children
Hakan Ercelebi, Pinar Ozbudak, Tugba Hirfanoglu, Ayse Serderoglu, Ebru Arhan
613 A new scoring model for outcomes in neonates with seizures: ENEOSS (Ege Neonatal Seizure Scoring Model)
Seda Kanmaz, Demet Terek, Ozge Altun Koroglu, Sanem Yılmaz, Mehmet Yalaz, Mete Akisu, Hasan Tekgul
614 Vermian dysplasia and lipoma in a child with headache and epileptic seizure
Senay Demir, Semra Saygi
615 Posterior periventricular extensive diffusion restriction in a 17 years old boy after cardiopulmonary resuscitation
Senay Demir , Halil Ibrahim Suner , Semra Saygi
616 Bi-allelic POLR3A null variants cause autosomal recessive leukodystrophy, hypomyelinating, 7
JiYoon Han, Hyo Jeong Kim, Jee Min Kim
617 Evaluation of periodic slow head nodding seizure
Eiji Nakagawa
620 A multimodal prognostic evaluation of preterm and term infants with neonatal encephalopathy in a prospective follow-up study
Seda Kanmaz, Ozge Altun Koroglu, Mahir Tanriverdi, Demet Terek, Gul Aktan, Mehmet Yalaz, Nilgun Kultursay, Mete Akisu, Hasan Tekgul
621 The clinical value of amplitude-integrated EEG for neonatal seizures: comparison of short-term (6-12 hours) and long-term (24-48 hours) monitoring
Hasan Tekgul, Mehmet Yalaz, Ayfer Arduc Akcay, Seda Kanmaz, Demet Terek, Ozge Altun Koroglu, Sanem Yılmaz, Gul Aktan, Mete Akisu, Nilgun Kultursay
622 Complete Penetrance but Different Phenotypes in a Korean Family with Maternal Interstitial Duplication at 15q11.2-q13.1: A Case Report
Jee Min Kim, Ji Yoon Han
624 Global burden of measles: A registry of neurological complications
Ibrahim Oncel, Ruzica Kravljanac, Altynshash Jaxybayeva, Sophia Bakhtadze, Jo Wilmshurst, Elaine Wirrell, Banu Anlar
625 Pseudotumor cerebri in childhood: a new vision to clinical spectrum and predictors for visual outcome
Cemile Busra Olculu, Seda Kanmaz, Ilayda Korkmaz, Yavuz Atas, Cenk Eraslan, Elif Demirkilinc Biler, Hepsen Mine Serin, Sanem Yilmaz, Omer Kitis, Onder Uretmen, Cem Calli, Gul Aktan, Sarenur Gokben, Hasan Tekgul
626 Post-COVID-19 related neurological features in a pediatric population
Salma Zouari Mallouli, Imen Ben Kraiem, Wafa Bouchaala, Olfa Jallouli, Sihem Ben Nsir, Fatma Kamoun Feki, Chahnez Charfi Triki
627 Management of Valproat Monotherapy in Adolescent Girls with Epilepsy; Evaluation of Predictive Factors of Seizure Recurrens
Edibe Pembegul Yildiz, Fulya Kurekci, Mehmet Akif Kılıç, Rıdvan Avci,, Osman Kipoğlu, Hülya Maras Genc, Mine Caliskan
629 Predicting seizure recurrence risk in pediatric epilepsy patients who are seizure free and stopped Anti-Epileptic Drugs
BRAHMINI KORRAI, VRAJESH UDANI, Neelu Desai
630 A Photosensitivite Trichothiodystrophy Patient With A Mutation in ERCC2 Gene
FATMA HANCI, Hande Özkalaycı, AYŞEGÜL DANIŞ, ÖMER FARUK KARAÇORLU
632 Ketogenic diet treatment success in our two patients with epilepsy of infancy with migrating focal seizures
Betül Kılıç, Esra Özpınar, Mehmet Palaz, Yasemin Topçu, Kürşad Aydın
633 Anti-NMDA receptor encephalitis in children – tale of ten years at a tertiary care center
Gautam Kamila, Richa Tiwari, Sheffali Gulati, Ankit Kumar Meena, Puneet Choudhary, Rahul Sinha, Prashant Jauhari, Biswaroop Chakrabarty
634 Two Cases With Typical GBS And Rare GBS Variant Associated With Covid-19
Sibğatullah Ali ORAK, Cisil ÇERÇİ KUBUR, Aslı Kübra ATASEVER, Muzeffer POLAT
635 Modified Atkins Diet for the Treatment of Refractory Epilepsy in Children: A Pilot Study from Indonesia
Setyo Handryastuti, Achmad Rafli, Irawan Mangunatmadja, Amanda Soebadi, Yoga Devaera, Cut Nurul Hafifah, Lora Sri Nofi, Ariek Ratnawati, Suci Fitrianti
637 Kidney Stone Formation İn Children Receiving Ketogenic Diet Therapy
Yiğithan Güzin, Ünsal Yılmaz, Nida Dinçel, Fatma Devrim, Aycan Ünalp
638 Children’s Medical Home in China (CHMC) – Promoting Early Development of Chinese Children
Yingshan Shi , Tingyu Li, Haijun Li, Ting Zhang, Guoqiang Cheng, Jenny Chen, Michael E. Msall
639 Optic Neuritis And Pseudotumor Cerebri Co-Existence İn A Patient With A Recent COVID-19 Infection
SEMRA SAYGI, ŞENAY DEMİR, ASTAN IBAYEV
640 A case of Emery Dreifuss Muscular Dystrophy with SYNE1 and SYNE2 mutations and white matter involvement
Senem Ayça, Zeynep Okay, Berker Okay, Kamil Şahin
641 Novel treatment approach to NORSE (new onset refractory status epilepticus) in children: Skipping the pharmacological coma
Harshkumar Patel
642 A Rare Case Of Mucopolysaccharidosis Type VI (Maroteaux–Lamy Syndrome)
SEMRA SAYGI, ALEV ARSLAN, ŞENAY DEMİR
643 Neurological Evaluation and Electroencephalographic Findings in Children with Autism Diagnosis
Elif Didinmez Taşkırdı, Nihal Olgaç Dündar, Pınar Gençpınar, Osman Büyükşen, Gonca Özyurt
645 Facial Nerve Venous Malformation Presenting As Bell's Palsy
SEMRA SAYGI, ZAFER ALTUN, HALUK YAVUZ
647 Spinal Muscular Atrophy - Emerging therapies: Experience from a tertiary care hospital
Sheffali Gulati, Madhulika Kabra, Rahul Sinha, Sonali Singh, Sayoni Roy Chowdhury, Arvinder Wander, Ankit Kumar Meena, Puneet Choudhary, Richa Tiwari, Rishi Sharma, Sakshi Ojha, Pawan Ghanghoria, Aakash M, Gautam Kamila, Anuja Agarwala, Kanak Lata Gupta, Vipsa Gupta, Shivani Tripathi, Vinod Dahiya
648 Genotypic and Phenotypic Spectrum of Children with Genetic West Syndrome From Northern India
BALAMURUGAN NAGARAJAN, PRIYANKA MADAAN, ANUPRIYA KAUR, ARUSHI GAHLOT SAINI, RENU SUTHAR, LOKESH SAINI, SAMEER VYAS, NAVEEN SANKHYAN, JITENDRA KUMAR SAHU
649 Non-dominant hemisphere is more excitable compared to dominant hemisphere
Gautam Kamila, Prashant Jauhari, Suman Jain, Biswaroop Chakrabarty, R M Pandey, Sheffali Gulati
650 Increased Post-Seizure ACTH Peak May Have a Role in the Benign Characteristics of Febrile Seizures
Elif Özcan, Sevim Şahin, Pınar Özkan Kart, Nihal Yıldız, Serap Özer Yaman, Ali Cansu
651 Evaluation of Childhood Epilepsies with Frontal Paroxysm
Meryem Ozdemir, elif karatoprak, Hatice Gulhan Sozen, Kutluhan Yılmaz
653 Three years follow up of 6-minute walk test and North Star Ambulatory Assessment in 30 ambulant DMD boys since the beginning of steroid treatment
Natalija Angelkova, Olivera Lekovska, Elena Sukarova-Angelovska, Biljana Mitrevska, Ljelja Muaremoska Kanzoska
654 PERONEAL NERVE PALSY DUE TO OSTEOCHONDROMA OF THE FİBULAR HEAD: A RARE CAUSE OF FOOT DROP
Recep Kamil Kilic, Salih Akbas, Akif Muhtar Ozturk, Ercan Demir
655 COVID-19 RELATED ADEM AND LONGITUDINAL EXTENSIVE TRANSVERSE MYELITIS WITH ACUTE ADENOVIRUS CO-INFECTION IN A NINE-YEAR-OLD CHILD
Recep Kamil Kilic, Ebru Arhan, İlknur Cankurt, Esra Serdaroglu, Emine Akkuzu, Ebru Azapagasi, Mutlu Uysal Yazici, Ercan Demir, Tugba Hirfanoglu
657 STUDY TO DETERMINE SENSORY PROCESSING DYSFUNCTION IN CHILDREN WITH ATTENTION DEFICIT HYPERACTIVITY DISORDER
Saurodip Maity, Neelu Desai, Vrajesh Udani
659 The Enabling Inclusion (EI) App: A story from Rural South India about COVID-19 and digital techno
Franzina Coutinho, Dinesh Krishna, Marie Brien, gauri. saxena, Paramakalyani Rajeshwaran, Navamani V
660 Study of clinical and genetic characteristics of limb-girdle muscular dystrophy in Iranian patients
Hossein Farshadmoghadam , Gholamreza Zamani, Mahmoud reza Ashrafi, Morteza Heidari, Ali Reza Tavasoli
661 ERCC5 novel missense mutation causing developmental delay and spasticity
Saleel Ramesh Chandratre
662 A rare metabolic disease causing infantile spasm: Argininosuccinate lyase deficiency
Nurşah Yeniay Süt, Miraç Yıldırım, Ömer Bektaş, Ayşe Tuğba Kartal, Serap Teber
663 A retrospective study of central nervous system vasculitis patients
Sarolta Dobner, Zoltán Liptai, Léna Szabó, Tamás Constantin, Edit Varga, Benke Péter, Barsi Péter, Mária Anna Hudák
664 A rare manifestation of pediatric CIDP: hypoglossal nerve involvement
Nurşah Yeniay Süt, Ömer Bektaş, Miraç Yıldırım, Ayşe Tuğba Kartal, Serap Teber
665 Research of autoimmunity clues in electrical status epilepticus (ESES) during sleep
Turgay Cokyaman, Gül Demet Kaya Özçora, Emine Tekin, Gürkan Gürbüz, Huriye Cetin
666 Childhood status epilepticus in children of 1-12 years of age SQUH: demographics and outcome of treatment
Amna Al Futaisi, Shihab Al Mawaali
669 Health coaching and COVID-19: Parent reports from India
Franzina Coutinho, Vrajesh Udani, Neelu Desai, gauri. saxena, Rashmi Dixit
671 A case with an epidermoid cyst in the cerebellopontine angle presenting with hemifacial spasm
ASLI KÜBRA ATASEVER, ÇİSİL ÇERÇİ KUBUR, Sibğatullah Ali ORAK, Muzaffer POLAT
672 Epileptic encephalopathy, visual impairment and developmental retardation: CDKL5 deficiency disorder
Betül Kılıç, Esra Özpınar, Yasemin Topçu, Mehmet Palaz, Kürşad Aydın
673 A study in a Turkish family with ataxia and points to MTCL1 as a candidate gene for autosomal dominant cerebellar ataxia
ÇİSİL ÇERÇİ KUBUR, Sibğatullah Ali ORAK, ASLI KÜBRA ATASEVER, Muzaffer POLAT
674 Clinical evolution in patients with autosomal recessive limb-girdle muscular dystrophy (LGMDR5): A Tunisian cohort
wafa bouchaala, sirine Frikha, Sihem Ben Ncir , Salma Zouari, Olfa Jallouli, Fatma kamoun, Faiza Fakhfakh, Chahnez Triki
675 An overview of drug-resistant epilepsies based on advances in genetics: a cohort study
Betül Kılıç, Esra Özpınar, Yasemin Topçu, İsmail Kaytan, Akif Ayaz, Kürşad Aydın
676 Holmes tremor associated with two different etiologies
Çiğdem İlter Uçar, Ömer Bektaş, Yavuz Sayar, Miraç Yıldırım, Serap Teber
677 Acute cerebellitis associated with juvenile idiopathic arthritis
Çiğdem İlter Uçar, Yavuz Sayar, Miraç Yıldırım, Ömer Bektaş, Serap Teber
681 Novel ANKRD11 gene mutation in an individual with a phenotype of KBG syndrome presenting like West syndrome
ASLI KÜBRA ATASEVER, Sibğatullah Ali ORAK, Çisil Çerçi KUBUR, Muzaffer POLAT
682 A case of TUBGCP2-associated tubulinopathy with a novel missense variant
Yavuz Sayar, Miraç Yıldırım, Ömer Bektaş, Çiğdem İlter Uçar, Serap Teber
683 Pathogenesis of nodding syndrome; Preliminary findings
Richard Idro, Maria Pia Giannocaro, Angela Vincent
685 A case of posttransplant acute limbic encephalitis associated with human herpesvirus-6
Yavuz Sayar, Çiğdem İlter Uçar, Ömer Bektaş, Miraç Yıldırım, Serap Teber
686 Epilepsy prevalence and trends in antiepileptic medication use among children in Turkey between 2015-2020
Irmak Simsek, Dilek Yapar, Tuğba Hirfanoğlu, Esra Serdaroğlu, Ercan Demir, Ebru Arhan
687 Effects of Oleuropein on Systemic Lipopolysaccharide-Induced Neuroinflammation in Rats
Sevim Şahin, Gülnur Esenülkü, Elif Şahin, Gülin Renda, Seren Gülşen Gürgen, Nihal Yıldız, Pınar Özkan Kart, Ahmet Alver, İsmail Abidin, Ali Cansu
688 Early Intervention app and Digital technology: Bridging the rehabilitation service gap in India
Franzina Coutinho, Dinesh Krishna, Marie Brien, gauri. saxena, Paramakalyani Rajeshwaran, Navamani V
689 A case of asparagine synthetase deficiency successfully treated with ketogenic diet
Mert Altıntaş, Çiğdem İlter Uçar, Ömer Bektaş, Yavuz Sayar, Miraç Yıldırım, Serap Teber
690 Assessment of Nutritional Status, Resuscitation Modalities of Malnutrition, and Enteral Feeding Products for Children with Neurological Disorders
Burce Emine Dortkardesler, Seda Kanmaz, Ozlem Yilmaz, Gursel Sen, Yavuz Atas, Cemile Busra Olculu, Tugce Ince, Dilara Ece Toprak, Hepsen Mine Serin, Sanem Keskin Yilmaz, Gul Aktan, Sarenur Gokben, Hediye Reyhan, Dogan Barut, Miray Karakoyun, Funda Cetin, Nuri Zafer Kurugol, Sema Aydogdu, Hasan Tekgul
691 Serious neurological complication associated with COVID 19 and MISC: Do we need to be more vigilant?
Renu Suthar, Chandana Bhagwat, Suresh Kumar, Arnab Ghosh, Arun Bansal, Mini Singh, Naveen Sankhyan
692 A pilot study on the opinions of future doctors about child neurology
Ipek Tekcicek, Esra Serdaroglu
693 Relationship between MRI patterns and refractory epilepsy in children with cerebral palsy: Cross-sectional study from a tertiary center
Mehmet Akif Kılıç, Fulya Kürekci, Edibe Pembegül Yıldız
694 Clinical analysis of 26 children with recurrent bacterial meningitis
Lian-feng Chen, Wen-lin Wu, Wen-Xiong Chen
695 EVALUATION OF HEALTH RELATED QUALITY OF LIFE IN CHILDREN WITH EPILEPSY USING QUALITY OF LIFE IN CHILDHOOD EPILEPSY QUESTIONNAIRE (QOLCE - 55)
Benjamin M. Sagayaraj, Venkatesan Srinath Melpakkam, Lal D V, Manasa Thangella
696 EXPANDING PHENOTYPIC DIVERSITY OF PRUNE1 RELATED DISORDERS: AN EXPERIENCE OF FOUR CASES IN A TERTIARY CENTER
Didem Soydemir, Cagatay Gunay, Sanem Yılmaz , Mert Karakaya, Sebahattin Cirak, Brunhilde Wirth, Hasan Tekgul, Semra Hiz Kurul, Reza Maroofian , Uluc Yis
697 Can vaccine-proximate seizures in Dravet syndrome be prevented?
Ingrid Scheffer, Lucy Deng, Nicholas Wood, Georgina Lewis, Abigail Cheung, Anita Campbell, Ushma Wadia, Krist Ewe, Margie Danchin
698 Ring Chromosome 18 Case With 18p Deletion
OLGAY BILDIK, FATMA KUSGOZ, BERK ÖZYILMAZ, SENER ARIKAN, NIHAL OLGAC DUNDAR, PINAR GENCPINAR
701 Acute disseminated encephalomyelitis (ADEM) in children: a multicenter retrospective study
Seda Kanmaz, Sanem Yilmaz, Nihal Olgac Dündar, Ayse Aksoy, Mehmet Canpolat, Huseyin Per, Ilknur Erol, Hakan Gumus, Yasemin Ozkale, Selcan Ozturk, Dilara Ece Toprak, Ibrahim Oncel, Murat Ozkale, Elif Nurdan Mansur, Hepsen Mine Serin, Gulsen Ersoz, Seyda Besen, Gulen Gul Mert, Ayten Gulec, Sevim Sahin, Cemile Busra Olculu, Ayberk Selek, Serdar Pekuz, Gunce Basarir, Cagatay Gunay, Leman Tekin Orgun, Didem Bİcer, Zehra Filiz Kahraman, Deniz Yuksel, Meral Karadag, Erdem Simsek, Aycan Unalp , Nihal Yildiz, Meltem Cobanogullari Direk , Uluc Yis, Huseyin Tan, Cengiz Havali , Aydan Degerliyurt , Mesut Gungor , Ozlem Herguner , Elif Perihan Oncel , Olcay Unver , Hale Atalay Celik, Bilge Ozgor, Ali Cansu , Asli Kubra Atasever , Ayse Tosun, Olcay Gungor, Cetin Okuyaz, Selvinaz Edizer , Semra Hız , Esra Sarıgecili, Gokcen Oz Tuncer , Pinar Gencpinar, Unsal Yilmaz, Hasan Tekgul, Banu Anlar
704 Anti-Hu associated encephalitis as the initial presentation of neuroblastoma
Seda Kanmaz, Sanem Yilmaz, Eda Ataseven, Dilara Ece Toprak, Tugce Ince, Hepsen Mine Serin, Mehmet Kantar, Hasan Tekgul
705 Evaluation of seizure semiology, genetic, magnetic resonance imaging and electroencephalogram findings in children with Rett syndrome: A multicenter retrospective study
Nihal Yıldız, Esra Serdaroglu, Pinar Ozkan Kart, Seyda Besen, Seda Kanmaz, Dilara Ece Toprak, Betul Kilic, Ozlem Ersoy, Pinar Gençpinar, Baris Ekici, Nihal Olgaç Dündar, Çetin Okuyaz, Ayse Serdaroglu, Kursat Bora Carman, Coskun Yarar, Burak Tatli, Ilknur Erol, Kursad Aydin, Hasan Tekgul, Ali Cansu
706 Clinical features of KCNQ2 mutation in a Romanian family
Florinela Gisela Rotaru, Daniela Dorina Vasile, Raluca Ioana Teleanu
707 A Case Of Vanishing White Matter Disease With Atypical Neuroimaging Presentation
OLGAY BILDIK, ELIF DIDINMEZ TASKIRDI, MELIS KOSE, NIHAL OLGAC DUNDAR, PINAR GENCPINAR
709 A rare neurodegenerative disorder mimicking autoimmune encephalitis induced by COVID-19: CONDSIAS
Esra Ozpinar, mehmet palaz, yasemin topcu, betul kilic, kursad aydin
710 The Determinants of Quality of Life in Rett Syndrome: A Cross-sectional Study
Ilay Caliskan, Ayfer Arduc Akcay
711 Chylous blood in an infant with febrile encephalopathy: Clues to metabolic etiology (Very Long Chain Acyl CoA Dehydrogenase Deficiency)
Bishwo Kunwar, Sushant Ghimire, Prerna Guleria, Amit Devgan, Vishal Sondhi, Sachendra Badal
713 A case with mutation of Vps13D: Leigh syndrome or spinocerebellar ataxia?
Esra Ozpİnar, mehmet palaz, betul kilic, yasemin topcu, kursad aydin
714 Home-EEG long term monitoring versus in house long term EEG monitoring
Yael Michaeli yossef, ANDREEA NISSENKORN
715 Ventricular septation on MRI could be diagnostic clue for PDH: Two case reports
MEHMET PALAZ, Esra Ozpinar, yasemin topcu, Betul Kilic, Kursad Aydin
717 Intracranial haemorrhage in two infant siblings: hereditary or acquired?
Ramudu Rongalli, Arjun Kurup, K Uday Bhanu, Biju M John, Vishal Sondhi, Sachendra Badal
718 Does the presence of Friedman criteria always spesific for pseudotumor cerebri?
Gülnur ESENÜLKÜ, İlker Eyüpoğlu, Tülay Kamaşak, Hasan Emral, Sevim Şahin, Elif Acar Arslan, Beril Dilber, Pınar Özkan Kart, Nihal Yıldız, Ali Cansu
719 Can leukodystrophy be reversible? a LTBL case report
MEHMET PALAZ, Esra Ozpinar, Betul Kilic, Yasemin Topcu, Kursad Aydin
720 National Based, Retrospective Study on the Evaluation of Clinical, Laboratory, and Imaging Research of Angelman Syndrome- Turkey's Multicenter Study
Hakan Gümüş, Ayten Güleç , Mehmet Canpolat, Betül Kılıç, Özlem Yılmaz, Yasemin Topçu, Seda Kanmaz, Adnan Deniz, Ünal Akça, Gülten Öztürk, Muhammed Bahadır Samur, Peren Perk Yücel, Dilara Füsun İçağasıoğlu, Aydan Değerliyurt, Mesut Güngör, Hülya İnce, Pinar Ozkan, Kürşad Aydın, Sanem Yılmaz, Hasan Tekgül, Selcan Öztürk, Bülent Kara, Burcu Karakayalı, Gülen Gül Mert, Nihal Olgaç Dündar Dündar, Çisil Çerci Kubur, Sedef Terzioglu Öztürk, Pinar Gençpinar, Aslıhan Kıraz, Murat Erdoğan, Munis Dündar, Hüseyin Per, Turkish Pediatric Angelman Syndrome Study Group
721 Paroxysmal sympathetic hyperactivity in a child with High Grade Glioma post resection surgery.
Sarvesh Kohli, Apoorv Saxena, Subir Dey, Sudip Sengupta, TVSVGK Tilak, Biju M John, VISHAL SONDHI, Sachendra Badal
722 The Rare Central Nervous System Findings in Pediatric SARS-COV-2 Patients
OLGAY BILDIK, GUNCE BASARIR, FATMA KUSGOZ, FATMA CEREN SARIOĞLU, PINAR GENCPINAR, NIHAL OLGAC DUNDAR
724 Intracranial cysts in pediatric age group: Incidental or developmental?
Burçin Şanlıdağ, Mehmet Alp Dirik, Eray Dirik
725 Neurocognitive Functions and Behavior Outcome of Preschool-Age Children with a History of Febrile Convulsions
Nuran Gozpinar, Bilgihan Bikmazer, Oguzhan Koyuncu, Aygun Hüseynova, Ferit Durankus, Elif Yuksel Karatoprak, Emek Uyur Yalcin, Nilufer Eldes Hacifazlioglu, Alperen Bikmazer, Vahdet Gormez
726 Rare dual diagnoses in an infant: Aicardi-Goutieres and Moyamoya Syndromes
Süleyman Şahin, Yavuz Sayar, Miraç Yıldırım
727 Efficiency of Rufinamide as add-on Treatment of Drug Resistant Generalized and Focal Epilepsies: One center
yasemin topcu, Esra Ozpinar, mehmet palaz, betul kilic, kursad aydin
728 Posterior reversible encephalopathy syndrome (PRES) without radiological correlate : Is it possible?
APOORV SAXENA, KMSK KRISHNA, Sarvesh Kohli, Satyranjan Das, K Uday Bhanu, Biju M John, VISHAL SONDHI, Sachendra Badal
729 Co-morbid psychiatric disorders in patients with arachnoid cyst: A case series
Yeliz Engindereli, Burçin Şanlıdağ, Mehmet Alp Dirik, Eray Dirik
730 An Infant With Movement Disorder And Infantile Spasm: Attenuated NKH
Esra Ülgen Temel, Esra Serdaroğlu, Ebru Arhan
732 Mirror movements in children: Case series
kiran Sanalli, Sweta Mukherjee, K Uday Bhanu, VISHAL SONDHI, Sachendra Badal
733 KEEP AN AYE ON LUMPY BUMPY HEAD: A CASE SERIES HIGHLIGHTING SPECTRUM OF PRESENTATION IN CRANIOSYNOSTOSIS
Marya Hameed, Syed Maaz Tariq, Ameet Kumar Jesrani, Hina Hanif, Kanwal Laique, Syed Shariqullah, Ashraf Amir Ali
734 The adaptability of health care professionals to the new neonatal seizure classification : ILAE-2020
Feyza Sakin, Seda Kanmaz, Sanem Yilmaz, Pinar Gencpinar, Muzaffer Polat, Demet Terek, Ozge Altun Koroglu, Sebnem Calkavur, Mehmet Yalaz, Mete Akisu, Hasan Tekgul
735 Evaluation of Efficacy and Tolerability of Lacosamide in Children with Drug-Resistant Epilepsy: A Multicenter Cohort Study
Pinar Ozkan Kart, Esra Serdaroglu, Nihal Yildiz, Mehpare Sari, Suleyman Sahin, Gursel Sen Sen, Pakize Karaoglu, Pinar Gencpinar, Betul Kilic, Selcan Ozturk, Elif Perihan Oncel, Celil Yilmaz, Arife Derda Yucel Sen, Ozlem Ersoy, Cetin Okuyaz, Kursat Bora Carman Carman, Muzaffer Polat, Ilknur Erol, Kursad Aydin Aydin, Hüseyin Per, Nihal Olgac Dundar, Aycan Unalp, Hasan Tekgul, Bülent Unay, Serap Teber, Senay Haspolat, Ayse Serdaroglu, Ali Cansu
736 Brain computed tomography still plays a critical role in the diagnosis of Aicardi-Goutières syndrome
Kürşad Aydın, Betül Kılıç, İlknur Erol, Esra Özpınar, Elif Perihan Öncel, Yasemin Topçu, Akif Ayaz, Mehmet Palaz
737 A rare dual pathology: Idiopathic intracranial hypertension presenting with isolated unilateral facial nerve palsy
Aysen Gok, Dondu Ulker Ustebay, Semra Hız Kurul, Uluc Yis
740 A case of acute ophthalmoplegia presenting after multisystem inflammatory syndrome in children (MIS-C)
Yavuz Sayar, Ömer Bektaş, Miraç Yıldırım, Çiğdem İlter Uçar, Serap Teber
741 STXBP1 as a Novel Gene for Sleep-Related Hypermotor Epilepsy: A Video-EEG Documented Case Report
Esra Ülgen Temel, Ayşe Serdaroğlu, Ebru Arhan
743 Clinical spectrum, treatment response and outcomes in children with Febrile Infection Related Epilepsy Syndrome (FIRES) : A case series from India
Ramya Bandi, Lokesh Lingappa, Vivek Jain, Ravi Sharma, Ramesh Konanki
744 The Role of Genetic Factors in Electroclinic and Therapeutic Effectiveness in Children with Dravet Syndrome: A Multi-Center Cohort Study
PİNAR OZKAN KART, Esra Serdaroglu, Nihal Yildiz, Seda Kanmaz, Ozlem Ersoy, Pinar Gencpinar, Cetin Okuyaz, Nihal Olgac Dundar, Senay Haspolat, Hasan Tekgul, Ayse Serdaroglu, Ali Cansu
746 To determine the prevalence of comorbidities among children with cerebral palsy (CP) and risk-factors predictive of different comorbidities.
Ruchika Jha, Maya Vishwanath, Ankita Dilip Gambhirao, Arjun Kurup, Sachendra Badal, Sarvesh Kohli, Parvathi Parappil, Biju M John, Krishna Moorthy Adhikari, Vishal Sondhi
747 Phenotypic diversity of GLUT1 deficiency: A case report.
Pinar Edem, Esra Er, Pelin Teke Kisa, Hande Gazeteci Tekin, Berk Ozyilmaz
751 Two Pediatric Cases of Initial Manifestation of Multiple Sclerosis After Immunization with the Pfizer-BioNTech COVID 19 Vaccine
Özben Akıncı Göktaş, Cansu Öztürk
752 Whole Exome Sequencing Results of 101 Epilepsy-Related Patients
Mustafa Hakan Demirbaş, Emriye Ferda Perçin, Gülsüm Kayhan, Ebru Arhan
753 Congenital Icthyosis and neurological manifestations, Sjogren Larsson and beyond: A study of seven children.
Sachendra Badal, Parvathi Parappil, Arjun Kurup, Ruchika Jha, Sweta Mukherjee, Vivek Gupta, Biju M John, Vishal Sondhi, Karthik Ram Mohan, KM Adhikari
754 Assessment of the knowledge level of physicians regarding the management of acute seizures in children and adolescents
Müge Ayanoğlu, Sercan Öztürk, Ayşe Tosun
756 Mineralizing angiopathy presenting as basal ganglia stroke
Shikha Jain, Meenakshi Girish
757 Evaluation Of Pediatric Cases With Gullian Barre Syndrome: A National Multicenter Study
Mehmet Canpolat, Selcan Öztürk, Hakan Gumus, Erhan Aksoy, Şeyda Besen, Aycan Ünalp, Nihal Olgaç Dündar, Sevim Şahin, Sermin Özcan, Cem Paketçi, Abdullah Canbal, Faruk İncecik, Seda Kanmaz, Aydan Değerliyurt, Arife Derda Yücel Şen, Çelebi Yıldırım, Ergin Atasay, İlknur Erol, Ünsal Yılmaz, Mesut Güngör, Sibgatullah Ali Orak, Hüseyin Tan, Pınar Gençpınar, Elif Acar Arslan, Gülten Öztürk, Gamze Sarıkaya Uzan, Burcu Calışkan, Hepsen Mine Serin, Didem Ardıçlı, Ömer Bektaş, Ayşe Tosun, Müjgan Arslan, Coşkun Yarar, Adnan Deniz, Hülya İnce, Meltem Cobanogulları Direk, Gökçen Öz Tuncer, Muhittin Bodur, Ayten Gülec, Ülkühan Öztoprak, Leman Tekin Orgun, Yiğithan Guzin, Çisil Çerçi Kubur, Fatma Hancı, Dilek Cavuşoglu, Deniz Yüksel, Hüseyin Per, Turkish Pediatric Guillain Barre Study Group Collaboration
758 NEXT GENERATION WHOLE EXOME SEQUENCING IN THE GENETIC DIAGNOSIS OF DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHY
Kun-Long Hung, Su-Jin Hsu, Lee-Chin Wang, Jyh-Feng Lu
759 Evaluation of genetic, electrophysiological and clinical characteristics of patients followed up with the diagnosis of Developmental Epileptic Encephalopathy: A single center experience
Elif Perihan Öncel, İlknur Erol , Leman Tekin Orgun, Şeyda Beşen, Atıl Bişgin, Sevcan Tug Bozdoğan
760 Cardiac impairment in Duchenne Muscular Dystrophy: A single-center retrospective experience
Didem Ardicli, Rohat Oztepeli, Nilgun Isiksalan Ozbulbul, Aysegul Nese Citak Kurt, Ibrahim Ilker Citak Kurt
762 National Based, Retrospective Study on the Evaluation of Clinical, Laboratory, and Imaging Research of Tuberous Sclerosis Cases
Hüseyin Per, Mehmet Canpolat, Ayten Güleç, Esra Serdaroğlu, Yavuz Ataş, İlknur Erol, Aydan Değerliyurt, Betül Kılıç, Meltem Çobanoğullları Direk, Gökçen Öz Tunçer, Selcan Öztürk, Kürşat Bora Çarman, Ebru Arhan, Seda Kanmaz, Yasemin Ozkale, Meryem Hilal Altaş, Emek Uyur Yalçın, Uluç Yiş, Serdal Güngör, Dilşad Türkdoğan, Ali Cansu, Bülent Ünay, Yasemin Topçu, Türkan Uygur Şahin, Nihal Olgaç Dündar, Aslihan Akdamar Kayar, Şeyda Besen, Ömer Karaca, Sevinç Keskin Keçecioğlu, Tuğba Hirfanoğlu, Hepsen Mine Serin, Kürşad Aydın, Gülbahar Kurt Bayır, Coşkun Yarar, Sibğatullah Ali Orak, Nilufer Eldeş Hacıhafızoglu, Ayşe Semra Hız, Bilge Özgör, Burcu Karakayalı, Nihal Yıldız, Çisil Çerçi, Hülya İnce, Rojan İpek, Dilek Çavuşoğlu, Canan Üstün, Çetin Okuyaz, Ayşegül Danış, Hakan Gümüş, Ayşe Serdaroğlu, Turkish Tuberous Sclerosis Study Group
764 Clinical, electrophysiological and radiological profile of focal cortical dysplasia in children
shikha jain, sangeetha yoganathan, karthik muthusamy
765 Children with genetically confirmed Hereditary Spastic Paraplegia (HSP): A case series from Eastern Mediterranean Region of Turkey
Şeyda Beşen, Elif Perihan Öncel, Leman Tekin Orgun, Sevcan Tug Bozdoğan, İlknur Erol
766 Pyridoxine Dependent Epilepsy with ALDH7A1 Mutation: Clinical Spectrum and Outcome in A Multicenter Study Cohort From Turkey
Leman Tekin Orgun, İlknur Erol, Seda Kanmaz, Şeyda Beşen, Cengiz Havalı, Habibe Koç Uçar, Canan Yıldırım, Erdem Şimşek, Pakize Karaoğlu, Türkan Uygur Şahin, Ayşe Aksoy, Faruk İncecik, Gülen Gül Mert, Gül Demet Kaya, Mehbare Özkan, Pınar Özkan, Senem Ayça, Tuğçe Uzunhan, Fatma Derya Bulut, Elif Perihan Öncel, Sevcan Tuğ Bozdoğan, Sanem Keskin, Hasan Tekgül
767 Two cases with Pontine Tegmental Cap Dysplasia: a rare hindbrain anomaly which may be misdiagnosed as Moebius Sequence
Hülya Maraş Genç, Sevinç Kalın, Büşra Kutlubay, Cemile Pehlivanoğlu
769 Clinical and genetic study of leukodystrophies in Tunisian cohort
Ichraf Kraoua, Thouraya Ben Younes, Imen Dorboz, Hanene Benrhouma, Hedia Klaa, Aida Rouissi, Sonia Abdelhak, Odile Boespflug –Tanguy, Najoua Miladi, Ilhem Ben Youssef-Turki
770 Clinical profile and short term seizure outcome in children with Genetic Generalized Epilepsies
Kavita Srivastava, Saahil Savaskar, Sneha Mahajan, Surekha Rajadhyaksha
772 Anti-NMDA receptor encephalitis after Human Bocavirus infection
Hale Atalay Celik, Ergin Atasoy, Bahadır Konuskan, Zeynelabidin Ozturk, Deniz Yuksel
773 Wolf-Hirschhorn syndrome and Dup15q – review of the literature and case report.
Radu Perjoc, Oana Vladâcenco, Raluca Teleanu
774 Effect of antiseizure medications on calcium profile, thyroid profile and bone mineral density in children
Kavita Srivastava, Saahil Savaskar, Sneha Mahajan
775 Four Different Types of Cases with Charcot-Marie-Tooth Axonal Involvement
Rojan İpek
776 Clinical Spectrum of Voltage-gated Sodium Channelopaties; One-center Experience
HALE Atalay CELİK, Abdullah Sezer, Ulkuhan Oztoprak, Erhan Aksoy, Deniz Yuksel
777 PRIDOSTIGMIN TREATMENT IN X-LINKED MYOTBULAR MYOPATHY
Salih Akbaş, Recep Kamil Kilic, Kıvılcım Gücüyener, Esra Serdaroğlu, Ercan Demir
778 A CHALLENGING CASE: WERNICKE ENCEPAHALOPATHY AFTER GASTRIC SLEEVE SURGERY
İsmail Hakkı Akbeyaz, Burcu Karakayalı, Sermin Özcan, Gülten Öztürk, Fethi Gül, Burçin Doruk Oktay, Dericioğlu Volkan, Pınar Kahraman Koytak, Özge Yapıcı, Eda Almus, Naime Evrim Karadağ Saygı, Olcay Ünver, Dilşad Türkdoğan
780 PATHOLOGICAL, PROBABLY PATHOLOGICAL OR OF UNCERTAIN SIGNIFICANCE COPY NUMBER VARIANT IN A POPULATION OF PATIENTS WITH NEURODEVELOPMENTAL DISORDERS WITH EPIDEMIOLOGICAL REPRESENTATION.
Francisco Carratalá-Marco, Andrea Huertas-Viudes, Lorena Pastor-Ferrandiz, Patricia Andreo-Lillo, Maite Carratalá-Marco
781 An open-label, single-dose study to evaluate the efficacy of probiotics PS128 in pediatric subjects with AADC deficiency
Wang-Tso Lee
782 Knockout of AGTPBP1, a gene for cerebellar ataxia, lead to neuronal death and increased dopaminergic release
Wang-Tso Lee