Wang Xiaoqian, Rao Xueyi, Zhang Jia, Gan Jing
Department of Pediatrics, West China Second University Hospital, Sichuan University, No. 20, Section Three, South Renmin Road, Chengdu, 610041, China.
Key Laboratory of Obstetrics & Gynecologic and Pediatric Diseases and Birth Defects of the Ministry of Education, Sichuan University, No. 20, Section Three, South Renmin Road, Chengdu, 610041, Sichuan, China.
Acta Epileptol. 2023 Mar 10;5(1):8. doi: 10.1186/s42494-023-00118-3.
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.
通过双胞胎研究和家族研究已证明，遗传性全身性癫痫（GGEs）由遗传因素引起。全身性癫痫的遗传机制一直在随着时间不断更新。尽管GGE的遗传学很复杂，但总会有新的易感基因以及拷贝数变异出现，这可能会在探索该问题上带来重要突破。与此同时，临床基因组资源（ClinGen）的发展排除了一些候选基因。这意味着我们必须弄清楚什么才是GGE的可靠基因，换句话说，哪个基因有足够的证据证明与GGE相关。这将增进我们对GGE遗传机制的理解。在这篇综述中，讨论了GGE重要的最新遗传机制。
