电压门控钠通道亚型基因突变相关癫痫发生和临床治疗

doi:10.12092/j.issn.1009-2501.2018.05.015

中国临床药理学与治疗学 ›› 2018, Vol. 23 ›› Issue (5): 570-577.doi: 10.12092/j.issn.1009-2501.2018.05.015

电压门控钠通道亚型基因突变相关癫痫发生和临床治疗

陶怀¹，薛卢嘉黛¹，陈夏²

¹湖南中医药大学医学院生物化学教研室，长沙 410208，湖南； ²中南大学湘雅二医院骨科，长沙 410011，湖南

收稿日期:2017-09-29 修回日期:2018-03-14 出版日期:2018-05-26 发布日期:2018-05-16
通讯作者: 陈夏，男，博士，主治医师，研究方向：离子通道相关疾病及骨性疾病研究。 Tel：0731-85294080 E-mail：chenxiacxv99@csu.edu.cn
作者简介:陶怀，女，博士，讲师，研究方向：神经精神疾病相关药理和毒理研究。 Tel：0731-88458710 E-mail：taohuai123@126.com
基金资助:
国家自然科学基金资助项目（81503276）；湖南省自然科学基金资助项目（2018JJ3387）；湖南省教育厅项目（15C1044）；湖南省大学生创新性课题（2017-310）；湖南中医药大学大学生创新性课题（2016-21）

Occurrence and clinical treatment of epilepsy associated with gene mutation in voltagegated sodium channel subtypes

TAO Huai¹, XU Lujiadai¹, CHEN Xia²

¹ School of Medicine, Hunan University of Chinese Medicine, Changsha 410208, Hunan, China; ²Department of Orthopedics, the Second Xiangya Hospital of Central South University, Changsha 410011, Hunan, China

Received:2017-09-29 Revised:2018-03-14 Online:2018-05-26 Published:2018-05-16

摘要/Abstract

摘要：

癫痫（epilepsy,EP）是一种由大脑神经元异常放电所引起的以短暂的大脑功能失常为特征的常见脑部疾病，易反复发作，严重影响患者的健康和生活质量。研究发现，表达在中枢神经系统中电压门控钠通道（voltage-gated sodium channel,VGSC）亚型Nav1.1、Nav1.2、Nav1.3、Nav1.6、Nav1.7在癫痫发病机制中起重要作用，是相关抗癫痫药物（AEDs）的作用靶点。这些通道α亚基编码基因突变可引起不同形式的癫痫发作。本文针对表达在中枢神经系统中的上述5种VGSC亚型基因突变相关癫痫发生和临床治疗作简要综述，为癫痫的发生发展电生理机制和临床治疗研究奠定基础。

关键词: 电压门控钠通道, 基因突变, 癫痫, 临床治疗

Abstract:

Epilepsy is a common brain disease caused by abnormal discharge of brain neurons with a characteristic of short brain dysfunction. It can break out repeatedly, and has a serious influence on the health and quality of life of patients. Previous studies have found that voltagegated sodium channel subtypes (Nav1.1, Nav1.2, Nav1.3, Nav1.6, Nav1.7) expressed in the central nervous system play an important role in the pathogenesis of epilepsy, and they are targets for related antiepileptic drugs. The mutations in the encoding gene of αsubunit of these channels can cause different forms of epileptic seizures. This paper reviewed the occurrence and clinical treatment of epilepsy related with mutations in the five VGSC subtypes expressed in the central nervous system, providing basis for the studies on electrophysiology mechanism of occurrence and development of epilepsy and clinical treatment.

Key words: voltage gated sodium channel, gene mutation, epilepsy, clinical treatment

中图分类号:

R742.1

陶怀，薛卢嘉黛，陈夏. 电压门控钠通道亚型基因突变相关癫痫发生和临床治疗[J]. 中国临床药理学与治疗学, 2018, 23(5): 570-577.

TAO Huai, XU Lujiadai, CHEN Xia. Occurrence and clinical treatment of epilepsy associated with gene mutation in voltagegated sodium channel subtypes[J]. Chinese Journal of Clinical Pharmacology and Therapeutics, 2018, 23(5): 570-577.

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电压门控钠通道亚型基因突变相关癫痫发生和临床治疗

Occurrence and clinical treatment of epilepsy associated with gene mutation in voltagegated sodium channel subtypes

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