Analysis of SCN9A gene mutation and its relationship with epilepsy / 中国小儿急救医学

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.