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The Role of Genetic Factors in Electroclinic and Therapeutic Effectiveness in Children with Dravet Syndrome: A Multi-Center Cohort Study

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