癲癇遺傳學及表觀遺傳學研究進展_Journal of Epilepsy

Authors：

 胡子英 ¹ , 王紅艷 ² ,  王藝 ¹

1. ;
2. ;

Corresponding?author：

王藝, Email: yiwang@shmu.edu.cn

Keywords：

癲癇; 遺傳學; 研究

DOI：

10.7507/2096-0247.20160091

Video：

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癲癇是一種以反復發作的痙攣為特點的嚴重的神經系統疾病。它是由多種原因導致的,主要有遺傳因素、腦損傷及環境因素,但是具體發病機制還不清楚。遺傳性癲癇家族研究發現癲癇是由一些編碼離子通道以及神經遞質受體蛋白的基因突變導致的。隨著技術進步和研究深入,逐漸發現癲癇遺傳不僅由離子通道和神經遞質基因控制,還受突觸小泡轉運通路,染色質重塑和轉錄,mTOR蛋白信號通路等相關基因,染色體拷貝數變異及表觀遺傳學的影響。該文主要討論癲癇相關基因、染色體異常和表觀遺傳學對癲癇發生的影響。

Citation： 胡子英, 王紅艷, 王藝. 癲癇遺傳學及表觀遺傳學研究進展. Journal of Epilepsy, 2016, 2(6): 515-522. doi: 10.7507/2096-0247.20160091 Copy

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