难治性癫痫的遗传学病因研究进展

Advances in genetic etiology of refractory epilepsy

近年来随着高通量测序的运用,越来越多癫痫患者能被找到病因,其中遗传学病因占40%。目前已发现900多个基因与癫痫有关,大多涉及离子通道,针对病因治疗能达到标本兼治的目的。该文就难治性癫痫的遗传学病因研究进展进行了综述。

With the application of high-throughput sequencing in recent years,the causes can be identified for more and more epilepsy patients,of which the genetic cause accounted for 40%.At present,more than 900 genes have been found to be related to epilepsy,most of which involved ion channels.Cause-targeted treatment can achieve the purpose of addressing both symptoms and root causes.This paper reviews the advances in genetic etiology of refractory epilepsy.