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Title Channels Author(s) Kawata, Yuko Citation弘前医学. 51(Suppl.), 1999, p.S99-105 Issue Date1999-11-01 URL /10129/1950 Rights Text versionpublisher Hirosaki Med. J. 51 (Suppl.) : S99-S105, 1999 EPILEPSY GENES: EXCITEMENT TRACED TO ION CHANNELS Sunao Kaneko, Kazumaru Wada, Motohiro Okada and Yuko Kawata Abstract 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 worlds 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. Hirosaki Med. J. 51, Supplement : S99-S105, 1999 Key words: epilepsy; genes; autoson1al dominant nocturnal frontal lobe epilepsy; benign familial neonatal convulsions; benign adult familial myocl
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