Epilepsy Genes : Excitement Traced to Ion Channels

フォーマット:

論文

責任表示:

Kaneko, Sunao ; Wada, Kazumaru ; Okada, Motohiro ; Kawata, Yuko

言語:

日本語

出版情報:

弘前大学医学部・弘前医学会, 1999-11-01

著者名:

• Kaneko, Sunao
• Wada, Kazumaru
• Okada, Motohiro
• Kawata, Yuko

掲載情報:

弘前医学

ISSN:

0439-1721      

巻:

51

通号:

Suppl.

開始ページ:

S99

終了ページ:

S105

バージョン:

publisher

概要:

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. 続きを見る

URL:

http://hdl.handle.net/10129/1950