N-甲基-D-天冬氨酸受体GRIN2A基因变异与癫痫研究进展  

Research progress of N-methyl-D-aspartate receptor GRIN2A gene variations and epilepsy

作　　者：唐薇婷[1] 肖波[1] TANG Wei-ting;XIAO Bo(Department of Neurology,Xiangya Hospital Central South University,Changsha 410008,Hu'nan,China)

机构地区：[1]中南大学湘雅医院神经内科,长沙410008

出　　处：《中国现代神经疾病杂志》2023年第2期89-93,共5页Chinese Journal of Contemporary Neurology and Neurosurgery

基　　金：国家重点研发计划项目(项目编号:2021YFC1005305);国家自然科学基金资助项目(项目编号:81974206)。

摘　　要：随着基因检测技术的发展,癫痫相关致病基因相继被发现,编码神经递质N-甲基-D-天冬氨酸受体(NMDAR)的GRIN2A基因变异与癫痫的发生密切相关,该基因变异导致的临床表型复杂多样,药物治疗效果不同。本文综述GRIN2A基因变异致NMDAR结构和功能改变与癫痫临床表型的关系,以为癫痫精准诊断与治疗提供依据。In recent years, with the rapid development of gene sequencing technology, a variety of epilepsy pathogenic genes have been discovered, among which GRIN2A gene variations encoding the neurotransmitter N-methyl-D-aspartate receptor(NMDAR) are closely related to the occurrence of epilepsy.At present, there are relatively few studies on the function of epileptic related variations in GRIN2A gene.The resulting epilepsy phenotypes are complex and varied, and different patients have different therapeutic effects on different drugs. This paper briefly summarizes the possible relationship between the changes of NMDAR structure and function caused by GRIN2A gene variations and the clinical phenotype of epilepsy,providing clues for the precise treatment of epilepsy.

关 键 词：癫痫 受体 N-甲基-D-天冬氨酸 基因 突变 综述 

分 类 号：R742.1[医药卫生—神经病学与精神病学]