离子通道与遗传性癫痫  

Ion channels and genetic epilepsy

作　　者：孔玮晶[1] 姜玉武[1] 

机构地区：[1]北京大学第一医院儿科,北京100034

出　　处：《中国实用儿科杂志》2015年第7期481-487,共7页Chinese Journal of Practical Pediatrics

基　　金：国家自然科学基金面上项目(81271439);北京市自然科学基金重点项目(7151010);北京市科委(Z141107004414036)资助

摘　　要：按照国际抗癫痫联盟(ILAE)的病因学分类,遗传性癫痫是一类由已知或推测的基因缺陷所直接导致的疾病,癫痫发作是其核心症状。目前已发现的参与人类癫痫发病的基因绝大多数是离子通道编码基因,包括电压门控离子通道(钾、钠、钙离子通道亚单位等)以及配体门控离子通道[烟碱型乙酰胆碱受体、γ-氨基丁酸(GABA)受体亚单位等]。随着二代测序技术发展,越来越多的离子通道基因突变在不同临床表型谱的癫痫患者中被检测出来,了解离子通道基因缺陷在癫痫致病中的作用,不仅有助于癫痫致病机制的研究,也为癫痫个体化的精准医疗提供依据。According to etiologic classification of epilepsy by ILAE, genetic epilepsy is caused by a known or presumed ge- netic defect in which seizures are the core symptom of the dis- order. Most of epilepsy-related genes encode ion channels in- cluding voltage-gated ion channels （subunits of K＋, Na＋ and Ca2＋channels, etc.） and ligand-gated ion channels （subunits of nicotinic acetylcholine receptors and GABA receptors, etcl） which are important causes in current known etiology of genet- ic epilepsy.With the advance of next-generation sequencing re-~ated technology, an increasing ~umher of mutations associat- ed with variable clinical phenotypes of epilepsy were identi- fied in genes encoding ion channels.A deep study of ion chan- nels dysfunction in pathogenesis of epilepsy is not only helpful for understanding the mechanism of epilepsy, but also impor- tant for personalized precision medicine.

关 键 词：癫痫 遗传性 离子通道 突变 抗癫痫药物 

分 类 号：R72[医药卫生—儿科]