ISSN 1306-0015 | E-ISSN 1308-6278
Case Report
A Dravet Syndrome case with newly defined mutation in SCN1A gene
1 Ankara Üniversitesi Tıp Fakültesi, Çocuk Sağlığı ve Hastalıkları Anabilim Dalı Çocuk Nörolojisi Bilim Dalı, Ankara, Türkiye  
Turk Pediatri Ars ; : -
DOI: 10.5152/TurkPediatriArs.2018.4197
Key Words: Dravet syndrome, SCN1A Gene, epilepsy


Dravet Syndrome is a catastrophic progressive epileptic syndrome. Denovo loss of function mutations on the SCN1A gene coding voltage-gated sodium channels are responsible. Disruption of the triggering of hippocampal GABAergic interneurons is assumed as the cause of fall in seizure threshold. A male patient applied to our clinic when he was ten months old with febrile-clonic seizures starting at eight months of age. Now he is ten years old. Electroencephalography was detected as normal. Phenobarbital was initiated because of long lasting seizures. But his seizures continued and therapy was replaced with valproic acid. On follow-up, different antiepileptics were used and stopped due to inefficiency or side-effects. The SCN1A gene analysis was performed and heterozygous c.4018delC mutation was identified. This new frame-shift mutation resulting by an early stop-codone is thought to be the cause of the disease. Finally, he was prescribed with valproic acid and stiripentol. For cases with fever-triggered, treatment-resistant seizures and delayed psychomotor development, Dravet Syndrome should be considered. Genetic diagnosis is important for treatment and follow-up.

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