特发性伴中央颞区棘波的癫痫谱系疾病的遗传学研究进展

摘要

特发性伴中央颞区棘波的癫痫谱系疾病(spectrum of idiopathic rolandic epilepsy syndromes,简称IRES谱病)是基于大量遗传学研究结果,遵循国际抗癫痫联盟的分类方法提出的概念.该谱病包括儿童良性癫痫伴中央颞区棘波、儿童良性癫痫伴中央颞区棘波变异型、Landau-Kleffner综合征、癫痫伴慢波睡眠期持续棘慢波、常染色体显性遗传中央颞区癫痫伴言语失用.IRES谱病具有明显的遗传倾向,主要遗传方式包括:常染色体显性遗传和多基因遗传,其主要的性状特点为中央-颞区棘波放电,但其遗传机制还有待充分研究.目前已发现多种基因[延伸蛋白复合体4亚基、N-甲基-D-天氡氨酸离子能谷氨酸受体2A、γ-氨基丁酸A受体、钾离子电压门控通道亚单位2或3、脑神经元性生长因子、DEPDC5 (DEP domain-containing 5)、RNA黏附蛋白fox1同系物1或3基因]和数种拷贝数变异与IRES谱病相关.我们结合IRES谱病的遗传学、临床及电生理特点做出综述,为全面了解IRES谱病,指导临床诊疗提供了支持.%The spectrum of idiopathic rolandic epilepsy syndromes (IRES) is a concept proposed by Scheffer and other scientists,based on plenty of researches and followed by the classification of International League Against Epilepsy.This spectrum is characterized by centrotemporal spikes and includes several syndromes,such as benign epilepsy of childhood with centrotemporal spikes,atypical benign partial epilepsy,Landau-Kleffner syndrome,continuous spikes and waves during sleep,autosomal dominant Rolandic epilepsy and speech dyspraxia.The spectrum has obvious genetic predisposition and the main modes of inheritance are autosomal dominant inheritance and polygenic inheritance.The exact inheritance mechanism needs further study.Several genes,such as elongation protein 4,recombinant glutamate receptor,ionotropic,N-methyl-D-aspartate 2A,γ-aminobutyric acid A receptor,potassium channel,voltage-gated,KQT-like subfamily,member 2/3,brain-derived neurotrophic factor,DEP domaincontaining 5,RNA binding protein fox-1 homolog 1/3 gene and a variety of copy number variations are related to the spectrum.In this review,we summarize the genetics,clinical and electrophysiological characteristics of the spectrum,to comprehensively understand the IRES spectrum and to provide support for clinical diagnosis and treatment.