Analysis of SCN9A gene mutation and its relationship with epilepsy
10.3760/cma.j.issn.1673-4912.2020.08.015
- VernacularTitle:SCN9A基因突变及其与癫痫关系分析
- Author:
Tingyi GUO
1
;
Hua WANG
Author Information
1. 中国医科大学附属盛京医院小儿神经内科，沈阳 110004
- From:
Chinese Pediatric Emergency Medicine
2020;27(8):631-633
- CountryChina
- Language:Chinese
-
Abstract:
Epilepsy is common clinically, which is a type of chronic disease.It is a transient brain dysfunction caused by sudden abnormal discharge of brain neurons.At present, there is still some controversy about the etiology of epilepsy.With the deepening of clinical researches on epilepsy, genetic and biological studies have shown that mutations in genes encoding ion channels in the nucleus of neurons may lead to changes in membrane channel proteins and changes in channel properties and structures are closely related with epilepsy.Sodium-controlling channel proteins play a very important role in epilepsy.They can control the changes of cell currents by turning them on and off to regulate the discharge of brain neurons.This review mainly discussed the correlation between the SCN9A gene encoding sodium ion channel Nav1.7 and the onset of epilepsy.
