GABRG2基因突变与癫痫相关性研究进展  

Research progress of GABRG2 mutations and epilepsy

作　　者：蒋永莉 江文 Jiang Yongli;Jiang Wen(Department of Neurology,Xijing Hospital,Air Force Medical University,Xi’an 710032,China)

机构地区：[1]空军军医大学西京医院神经内科,西安710032

出　　处：《中华神经科杂志》2020年第10期824-829,共6页Chinese Journal of Neurology

基　　金：国家自然科学基金资助项目(81974204)。

摘　　要：癫痫是一种常见的慢性脑部疾病,探讨其发生机制一直是脑科学研究的重要方向之一。γ-氨基丁酸A型受体(GABAAR)介导的γ-氨基丁酸(GABA)能抑制性通路在癫痫的发生发展中扮演了重要角色。GABRG2是GABAAR基因中最常见的癫痫致病基因,该基因突变主要通过影响受体在细胞膜上的表达及在突触后膜的聚集性,使得GABA能抑制性通路功能受损,进而导致多种临床表型不同的癫痫综合征。本文将重点综述GABRG2基因突变与癫痫相关性的研究进展,为癫痫患者的精准诊疗提供依据。Epilepsy is a common chronic neurological disorder.The exploration of its pathophysiology has been one of the important directions in brain research.The GABA-ergic pathway mediated by GABAA receptors(GABAAR)plays a critical role in the development of epilepsy.Among all the GABAAR subunits,mutations in GABRG2 have been most frequently associated with epilepsy.By mainly influencing GABAAR trafficking and clustering at synapses,all of these mutations impair GABA-ergic inhibitory synaptic transmission to different extents,and cause epilepsy syndromes with different clinical phenotypes.This review will focus on the research progress of GABRG2 mutations and epilepsy,and provide the basis for precise diagnosis and individualized treatment of epilepsy patients.

关 键 词：癫痫 受体 GABA-A GABRG2基因 

分 类 号：R742.1[医药卫生—神经病学与精神病学]