青少年肌阵挛癫痫相关非离子通道基因研究进展

Research progress of non-ion channel genes related to juvenile myoclonic epilepsy

青少年肌阵挛癫痫(juvenile myoclonic epilepsy,JME)是特发性全面性癫痫(idiopathic generalized epilepsy,IGE)中常见的一种亚型。遗传因素在JME中起重要作用,已发现多个基因和染色体位点与JME的发病有关。根据基因突变引起JME中涉及的不同机制,可以将JME相关基因分为离子通道基因和非离子通道基因,离子通道基因的作用机制已经被逐渐明确且只占少数病例,对JME相关的非离子通道基因的研究尚未明确,本文从神经递质相关基因(CHRNA4、GRM4、SLC6A4)、神经系统发育相关基因(TOP3B、CILK1、BRD2、EFHC1)、其他相关基因(TAP-1、CX36)三个方面对JME相关非离子通道基因的研究进展进行综述。

Juvenile myoclonic epilepsy(JME)is a common subtype of idiopathic generalized epilepsy(IGE).Genetic factors play an important role in JME.Multiple genes and chromosomal loci have been found to be associated with the onset of JME.According to the different mechanisms involved in gene mutations causing JME,JME related genes can be divided into ion channel genes and non-ion channel genes.The mechanism of action of ion channel genes has gradually been clarified which only accounts for a few cases.The mechanism of action of JME related non-ion channel genes is not yet clear.This article will review the research progress of JME related non-ion channel genes from three aspects:neurotransmitter related genes(CHRNA4,GRM4,SLC6A4),nervous system development related genes(TOP3B,CILK1,BRD2,EFHC1)and other related genes(TAP-1,CX36).