儿童失神癫痫的遗传学研究进展  

Genetic progress of childhood absence epilepsy

作　　者：刘飒 顾鸣敏[1] 

机构地区：[1]上海交通大学基础医学院医学遗传学教研室,上海200025

出　　处：《上海交通大学学报（医学版）》2018年第2期221-226,共6页Journal of Shanghai Jiao tong University:Medical Science

基　　金：国家自然科学基金(31571295)~~

摘　　要：儿童失神癫痫(childhood absence epilepsy,CAE)是遗传性全身性癫痫的一种重要的癫痫综合征类型,发病率为5.8/100 000~7.1/100 000。CAE的遗传学发生机制一直是学界探究的热点,已发现的机制调节因素包括钙离子通道、γ-氨基丁酸受体相关基因在内的易感基因以及基因组片段拷贝数变异。但CAE的遗传机制复杂,现已发现的机制并不能完全解释所有的发病情况。新的易感基因和遗传机制的不断发现,也促使研究者从相关癫痫综合征的角度来系统地研究这个问题。该文综述了CAE的遗传学特点、可能的遗传学机制及治疗药物。Childhood absence epilepsy(CAE) is an important kind of epileptic syndrome of genetic generalized epilepsies(GGEs) with prevalence of 5.8/100 000-7.1/100 000. The genetic mechanism of CAE is always the hotspot of research. Susceptibility genes including calcium channel and γ-aminobutyric acid receptor as well as copy number variations(CNVs) have been found. However, those mechanisms cannot explain all the situations since the genetic content of CAE is rather complicated. Nowadays, with new susceptibility genes and genetic mechanisms coming to light, researchers are supposed to study this problem from the point of associated epileptic syndromes. In this review, the genetic features, probable mechanisms of CAE and therapeutic drugs were summarized.

关 键 词：儿童失神癫痫 遗传性全身性癫痫 遗传学 易感基因 基因组片段拷贝数变异 

分 类 号：R742.1[医药卫生—神经病学与精神病学]