癫痫遗传学及表观遗传学研究进展_Journal of Epilepsy

Authors：

 胡子英 ¹ , 王红艳 ² ,  王艺 ¹

1. ;
2. ;

Corresponding author：

王艺, Email: yiwang@shmu.edu.cn

Keywords：

癫痫; 遗传学; 研究

DOI：

10.7507/2096-0247.20160091

Video：

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癫痫是一种以反复发作的痉挛为特点的严重的神经系统疾病。它是由多种原因导致的,主要有遗传因素、脑损伤及环境因素,但是具体发病机制还不清楚。遗传性癫痫家族研究发现癫痫是由一些编码离子通道以及神经递质受体蛋白的基因突变导致的。随着技术进步和研究深入,逐渐发现癫痫遗传不仅由离子通道和神经递质基因控制,还受突触小泡转运通路,染色质重塑和转录,mTOR蛋白信号通路等相关基因,染色体拷贝数变异及表观遗传学的影响。该文主要讨论癫痫相关基因、染色体异常和表观遗传学对癫痫发生的影响。

Citation： 胡子英, 王红艳, 王艺. 癫痫遗传学及表观遗传学研究进展. Journal of Epilepsy, 2016, 2(6): 515-522. doi: 10.7507/2096-0247.20160091 Copy

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