てんかんの遺伝子 : イオンチャネルへたどり着いた興奮

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