Kaneko Sunao, Iwasa Hiroto, Okada Motohiro
Department of Neuropsychiatry, Hirosaki University, Hirosaki, Japan.
Epilepsia. 2002;43 Suppl 9:16-20. doi: 10.1046/j.1528-1157.43.s.9.5.x.
Epilepsy affects >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 despite recent advances in molecular biology. However, genetic identifiers of certain types of epilepsy with neurodegenerative characteristics and of a small number of familial idiopathic epilepsies have been uncovered to date. This article reviews recent progress made in molecular genetics of epilepsy, focusing mostly on idiopathic epilepsy together with our own discovery of novel mutations in the genes of autosomal dominant nocturnal frontal lobe epilepsy and benign familial neonatal convulsions (BFNCs), and the genetic locus of benign adult familial myoclonic epilepsy. Pathogenesis of epilepsy as a channelopathy and of BFNC also is discussed.
癫痫影响着全球超过0.5%的人口,且具有很大的遗传因素。最常见的人类遗传性癫痫呈现出复杂的遗传模式,尽管分子生物学取得了最新进展,但易感性基因的具体身份在很大程度上仍不明确。然而,迄今为止,已经发现了某些具有神经退行性特征的癫痫类型以及少数家族性特发性癫痫的遗传标识。本文综述了癫痫分子遗传学的最新进展,主要聚焦于特发性癫痫,以及我们自己在常染色体显性夜间额叶癫痫和良性家族性新生儿惊厥(BFNC)基因中发现的新突变,还有良性成人家族性肌阵挛癫痫的遗传位点。同时也讨论了癫痫作为一种离子通道病的发病机制以及BFNC的发病机制。