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人类部分性癫痫的遗传学

Genetics of human partial epilepsy.

作者信息

Berkovic S F, Scheffer I E

机构信息

Department of Medicine (Neurology), University of Melbourne, Melbourne, Victoria, Australia.

出版信息

Curr Opin Neurol. 1997 Apr;10(2):110-4. doi: 10.1097/00019052-199704000-00007.

Abstract

A minor genetic predisposition to partial epilepsy has been long recognized. Recently, a group of idiopathic partial epilepsies with autosomal dominant inheritance has been identified. The clinical features and molecular genetic findings in these epilepsies are outlined in the present review. The first genetic defect in an idiopathic epilepsy has been found in autosomal dominant nocturnal frontal lobe epilepsy, the archetype of this newly recognized group of inherited partial epilepsies.

摘要

部分癫痫存在轻微的遗传易感性早已为人所知。最近,一组具有常染色体显性遗传的特发性部分癫痫已被确认。本综述概述了这些癫痫的临床特征和分子遗传学发现。在常染色体显性夜间额叶癫痫中发现了特发性癫痫的首个遗传缺陷,该病是这一最新确认的遗传性部分癫痫组的原型。

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