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
Objectives: Dravet syndrome (DS) is the prototype of drug-resistant developmental epileptic encephalopathies. We aimed to determine the electroclinical features and neurodevelopmental comorbidities and the effectiveness of first and second-generation anti-seizure medication (ASM) in treatment success in cases with genetic mutations. Methods: A total of 70 patients, age at the ranged from 1 months to 18 years, were included in the study from 5 centers. Demographic characteristics of patients, neuromotor developmental stages, neurological examination findings, comorbidities, seizure semiology, electroencephalography and magnetic resonance findings, genetic mutations, anti-seizure drugs, relationship between genetic mutation and treatment response, seizure freedom and SUDEP rates examined. Results: The mean age of the cases was 13.52 ± 0.51 (1-24), 58.6% (n:41) of the patients were female. The mean follow-up period was 42 months and ranged from 3 to 190 months. The clinical staging was Stage 1 22.9%(n:16), Stage 2 22.9% (n: 16), Stage 3 54.3% (n:38). The mean duration of the first seizure was 9.2 months, and the history of febrile seizure was 95.7% (n:67). Comparison of the data before and after initiation of ASM is given in Table 1. The most commonly used ASM was 70% (n:49) clobazam (Table 2-3). While the most common mutation was 82.6% (n:66) SCN1A, the least frequent mutations were HCN1, GABRA1, PCDH19 and STXBP1. Conclusion: It was observed that ASMs started in cases with SCN1A mutations did not reduce the frequency of seizures. There is a need for new drugs to be developed and new treatment modalities in DS.
Keywords: Dravet syndrome, epileptic encephalopathy, genetic mutation, antiseizures medication
PİNAR OZKAN KART
Turkey
Esra Serdaroglu
Turkey
Nihal Yildiz
Seda Kanmaz
Ozlem Ersoy
Turkey
Pinar Gencpinar
Turkey
Cetin Okuyaz
Turkey
Nihal Olgac Dundar
Turkey
Senay Haspolat
Turkey
Hasan Tekgul
Turkey
Ayse Serdaroglu
Turkey
Ali Cansu
Turkey
Objectives: Dravet syndrome (DS) is the prototype of drug-resistant developmental epileptic encephalopathies. We aimed to determine the electroclinical features and neurodevelopmental comorbidities and the effectiveness of first and second-generation anti-seizure medication (ASM) in treatment success in cases with genetic mutations. Methods: A total of 70 patients, age at the ranged from 1 months to 18 years, were included in the study from 5 centers. Demographic characteristics of patients, neuromotor developmental stages, neurological examination findings, comorbidities, seizure semiology, electroencephalography and magnetic resonance findings, genetic mutations, anti-seizure drugs, relationship between genetic mutation and treatment response, seizure freedom and SUDEP rates examined. Results: The mean age of the cases was 13.52 ± 0.51 (1-24), 58.6% (n:41) of the patients were female. The mean follow-up period was 42 months and ranged from 3 to 190 months. The clinical staging was Stage 1 22.9%(n:16), Stage 2 22.9% (n: 16), Stage 3 54.3% (n:38). The mean duration of the first seizure was 9.2 months, and the history of febrile seizure was 95.7% (n:67). Comparison of the data before and after initiation of ASM is given in Table 1. The most commonly used ASM was 70% (n:49) clobazam (Table 2-3). While the most common mutation was 82.6% (n:66) SCN1A, the least frequent mutations were HCN1, GABRA1, PCDH19 and STXBP1. Conclusion: It was observed that ASMs started in cases with SCN1A mutations did not reduce the frequency of seizures. There is a need for new drugs to be developed and new treatment modalities in DS.
Keywords: Dravet syndrome, epileptic encephalopathy, genetic mutation, antiseizures medication
PİNAR OZKAN KART
Turkey
Esra Serdaroglu
Turkey
Nihal Yildiz
Seda Kanmaz
Ozlem Ersoy
Turkey
Pinar Gencpinar
Turkey
Cetin Okuyaz
Turkey
Nihal Olgac Dundar
Turkey
Senay Haspolat
Turkey
Hasan Tekgul
Turkey
Ayse Serdaroglu
Turkey
Ali Cansu
Turkey
PİNAR OZKAN KART
Turkey
Turkey