摘要/Abstract

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。
关键词: &ensp, 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
Abstract:
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.
Key words: childhood absence epilepsy, genetic generalized epilepsies, genetics, susceptibility gene, copy number variations


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