Polymorphism of SCN1A and SCN2A Gene in Pediatric Refractory Epilepsy Patients / 대한간질학회지

ABSTRACT

PURPOSE: Epilepsy is a common chronic neurological disorder characterized by recurrent unprovoked seizures. While there have been many break throughs in development of antiepileptic medications, the cure for epilepsy still needs many answers, such as genetic aspects of the illness. Gene mutation may contribute to this situation. In this study, we have evaluated children with single nucleotide polymorphisms (SNP) of SCN1A c.3184 A-->G (rs2298771) and SCN2A c.56 G-->A (rs17183814) to analyze these genes were associated with refractory seizure. METHODS: Three hundreds and eleven children who visited the outpatient clinic in Chungnam National University Hospital, were retrospectively reviewed and, the data for their demographic profiles, clinical characteristics, and the results for SNP of SCN1A and SCN2A gene were collected. We divided them into three groups of control, response, and refractory groups. RESULTS: There was no statistical difference in demographic profiles of the patients. A variant of SCN2A c.56 G-->A polymorphism was associated with refractory seizure in pediatric patients with epilepsy (p=0.004; odds ratio 2.78, 95% confidence interval 1.39-5.56). CONCLUSIONS: SNP of SCN2A c.56 G-->A could be suggested as one of the causes of pediatric refractory epilepsy.