GABA受体基因突变相关性癫痫研究进展  

Research progress in the GABA receptor mutations related epilepsy

作　　者：袁梦 张佳 沈亚君 罗欢 杨作臻 甘靖 Yuan Meng;Zhang Jia;Shen Yajun;Luo Huan;Yang Zuozhen;Gan Jing(Department of Pediatrics,West China Second University Hospital,Sichuan University,Key Laboratory of Obstetrics&Gynecologic and Pediatric Diseases and Birth Defects of the Ministry of Education,Sichuan University,Chengdu 610041,China;Cipher Gene LLC,Beijing 100089,China)

机构地区：[1]四川大学华西第二医院儿科,出生缺陷与相关妇儿疾病教育部重点实验室,成都610041 [2]赛福解码(北京)基因科技有限公司,北京100089

出　　处：《神经疾病与精神卫生》2023年第5期370-375,共6页Journal of Neuroscience and Mental Health

基　　金：国家自然科学基金(82071686);四川省科技厅重点研发项目(2021YFS0093);四川大学华西第二医院科研基金(KL115,KL072)。

摘　　要：癫痫是儿童神经系统疾病中的一种常见疾病,随着基因检测技术在临床中的应用,越来越多的患儿被发现其病因系遗传性癫痫。γ-氨基丁酸A型受体(GABAAR)是一种配体门控的氯离子通道蛋白,介导中枢神经系统的主要抑制功能,其功能障碍在癫痫的病因学中发挥重要作用。已证实GABAAR亚单位GABRA1、GABRA6、GABRB2、GABRB3、GABRG2及GABRD变异与癫痫相关。现就GABAAR相关亚单位变异相关性癫痫的机制及临床表型进行综述,为这一类患者的精准治疗提供参考依据。Epilepsy is a common disease in children's nervous system diseases.With the application of gene sequencing technology in clinical practice,more and more children are found to be genetic associated epilepsy.γ-Aminobutyric acid type A receptor(GABAAR)is a ligand-gated chloride channel,which mediates the main inhibitory function of the central nervous system.Its dysfunction plays an important role in the etiology of epilepsy.It has been confirmed that the subunits of GABAAR including GABRA1,GABRA6,GABRB2,GABRB3,GABRG2 and GABRD are related to epilepsy.In this paper,we review the mechanism and clinical phenotype of the GABAAR subunit related epilepsy for the precise treatment of these patients.

关 键 词：GABA受体基因 突变 癫痫 综述 

分 类 号：R742.1[医药卫生—神经病学与精神病学]