Genetic mechanisms in generalized epilepsies.

IF 1.2 Q4 CLINICAL NEUROLOGY Acta Epileptologica Pub Date : 2023-03-10 DOI:10.1186/s42494-023-00118-3
Xiaoqian Wang, Xueyi Rao, Jia Zhang, Jing Gan
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Abstract

The genetic generalized epilepsies (GGEs) have been proved to generate from genetic impact by twin studies and family studies. The genetic mechanisms of generalized epilepsies are always updating over time. Although the genetics of GGE is complex, there are always new susceptibility genes coming up as well as copy number variations which can lead to important breakthroughs in exploring the problem. At the same time, the development of ClinGen fades out some of the candidate genes. This means we have to figure out what accounts for a reliable gene for GGE, in another word, which gene has sufficient evidence for GGE. This will improve our understanding of the genetic mechanisms of GGE. In this review, important up-to-date genetic mechanisms of GGE were discussed.

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广泛性癫痫的遗传机制
双胞胎研究和家庭研究已证实遗传性广泛性癫痫(GGEs)是由遗传影响引起的。广泛性癫痫的遗传机制总是随着时间的推移而更新。虽然GGE的遗传学很复杂,但总会有新的易感基因出现,拷贝数变异也会带来重要的突破。与此同时,ClinGen的发展逐渐淘汰了一些候选基因。这意味着我们必须弄清楚是什么导致了GGE的可靠基因,换句话说,哪个基因有足够的证据证明GGE。这将提高我们对GGE发生机制的认识。本文就近年来GGE的发生机制作一综述。
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来源期刊
Acta Epileptologica
Acta Epileptologica Medicine-Neurology (clinical)
CiteScore
2.00
自引率
0.00%
发文量
38
审稿时长
20 weeks
期刊最新文献
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