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Autosomal dominant nocturnal frontal lobe epilepsy(ADNFLE), idiopathic generalized epilepsy(IGE)and the neuronal nicotinic acetylcholine receptor Kazumaru Wada 1 , Takao Osanai 1 , Takuhiko Kato 1 , Sunao Kaneko 2 1Department of Occupational Therapy, School of Health Sciences, Hirosaki University 2Department of Neuropsychiatry, Hi-rosaki University School of Medicine Keyword: 遺伝子 , ニコチン性アセチルコリン受容体 , 常染色体優性夜間前頭葉てんかん , チャネロパチー pp.220-224
Published Date 2003/4/10
DOI https://doi.org/10.11477/mf.1431100300
  • Abstract
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 Theα4 subunit gene of the neuronal nicotinic acetylcholine receptor(CHRNA4)has been identified as the first gene underlying an idiopathic partial epilepsy syndrome in human, autosomal dominant nocturnal frontal lobe epilepsy(ADNFLE). ADNFLE was first reported in 1994, and has since been recognized as a new clinical entity of epilepsy. The partial epilepsy is characterized by a brief seizure during light sleep, and is often misdiagnosed as nightmare or parasomnia. ADNFLE is a monogenic disorder inherited as an autosomal dominant trait with high penetrance. Variations of the CHRNA4gene, or so-far-undetected sequence variants near the CHRNA4 locus, may confer susceptibility to the common IGE syndromes.


Copyright © 2003, Igaku-Shoin Ltd. All rights reserved.

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電子版ISSN 1882-1243 印刷版ISSN 0001-8724 医学書院

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