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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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