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

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。

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.