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The Role of Genomics Data On The Concept of “Developmental Epileptic Encephalopathies” In The “Electroclinic Syndromes”: A Reflection From The National Cohort Study (turkish Epistep-2)

Background/Objective. There is an enormous effect of genomics on the concept of "developmental epileptic encephalopathies-DEE". To define the well-known "electroclinic syndromes" in a large cohort with “DEE". Methods. A study group consisted of 655 (49%) children DEE with a genetic code labeled " gene-name DEE " from a national cohort called Turkish EPISTEP-1 (n=1336). The demographics are; the mean age at first seizure; 5.8 ±5.1 months, the mean follow-up period; 3.41±2.8 years, and the median duration of etiologic diagnosis; 20 months, genetic-molecular diagnosis with gene-based tests in 595 (90.8%) of 655 patients and remaining with chromosomal analyses. Result. According to the ILAE classification, a well-known " electroclinical syndrome " could be defined in 505 of 655 (77%) patients with " gen name DEE" in Table 1. The most common functional mutations and pathologic variants were presented in Table 2. "Electroclinical syndrome name, gene name DEE" was labeled in 317 (82.3%) of 385 patients with "gene name DEE ". The defined "gen-name DEEs" was also applied to the OMIM database (Table 3). Conclusion. This cohort study reflects that the importance of "electroclinical syndromes " has been reduced in favor of the new genetic tests. We proposed the term "gene name DEE" for the initial diagnosis of the clinical entity for still unknown electroclinic syndrome and the term " electroclinical syndrome name, gene name DEE" in order to obtain a better genotype and phenotype correlation with simple nomenclature

Hasan Tekgul
Ege University Medical Faculty
Turkey

Seda Kanmaz
Ege University Medical Faculty
Turkey

Sanem Yilmaz
Ege University Medical Faculty
Turkey

Esra Serdaroglu
Gazi University Medical Faculty
Turkey

Ali Cansu
Karadeniz Technical University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Bulent Unay
University of Health Sciences, Gulhane Faculty of Medicine, Gulhane Training and Research Hospital
Turkey

Bulent Kara
Kocaeli University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Semra Hiz
Dokuz Eylul University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Cetin Okuyaz
Mersin University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Aycan Unalp
University of Health Sciences Dr. Behçet Uz Child Disease and Pediatric Surgery Training and Research Hospital
Turkey

Muzaffer Polat
Celal Bayar University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Ayse Tosun
Adnan Menderes University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Serap Teber
Ankara University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Hulya Kayılıoglu
Mugla Sitki Kocman University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Nihal Olgac Dundar
Katip Celebi University Faculty of Medicine, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Ebru Arhan
Gazi University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Tugba Hirfanoglu
Gazi University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Mehmet Canpolat
Erciyes University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Gul Aktan
Ege University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Huseyin Per
Erciyes University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Ayse Serdaroglu
Gazi University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Sarenur Gokben
Ege University Medical Faculty, Department of Pediatrics, Division of Pediatric Neurology
Turkey

Kursad Aydın
Medipol University Faculty of Medicine, Department of Pediatric Neurology
Turkey

 


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