<Minireview> Epilepsy Genes : Excitement Traced to Ion Channels (てんかんの遺伝子 : イオンチャネルへたどり着いた興奮)

概要

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Epilepsy is a neurological disorder characterized by recurring seizures. It is physiologicallycharacterized by abnormal, excessive and self-terminating discharges from neurons. Epilepsy affects morethan 0.5 % of the world's population and has a large genetic component. The most common human geneticepilepsies display a complex pattern of inheritance and the identity of the susceptibility genes is largelyunknown. This article reviews recent progress made in molecular genetics of epilepsy, including our owndiscovery of two novel mutations in the genes of autosomal dominant nocturnal frontal lobe epilepsy andbenign familial neonatal convulsions, and our mapping of the genetic locus of benign adult familial myoclonicepilepsy. Pathogenesis of epilepsy as a channelopathy and perspectives of molecular genetic study of epilepsyare also discussed.