Genetic mechanisms in generalized epilepsies

被引：1

作者：

Wang, Xiaoqian ^{[1
,2
]}

Rao, Xueyi ^{[1
,2
]}

Zhang, Jia ^{[1
,2
]}

Gan, Jing ^{[1
,2
]}

机构：

[1] Sichuan Univ, West China Univ Hosp 2, Dept Pediat, 20,Sect Three,South Renmin Rd, Chengdu 610041, Sichuan, Peoples R China

[2] Sichuan Univ, Key Lab Obstet & Gynecol & Pediat Dis & Birth Defe, Minist Educ, 20,Sect Three,South Renmin Rd, Chengdu 610041, Sichuan, Peoples R China

来源：

ACTA EPILEPTOLOGICA | 2023年 / 5卷 / 01期

基金：

中国国家自然科学基金;

关键词：

Genetic generalized epilepsies; Genetic mechanism; Susceptibility gene; Copy number variations; CHILDHOOD ABSENCE EPILEPSY; GABA(A) RECEPTOR ALPHA(1)-SUBUNIT; MYOCLONIC-ASTATIC EPILEPSY; MOUSE MODEL; 15Q13.3; MICRODELETIONS; ANTIEPILEPTIC DRUGS; PHENOTYPIC SPECTRUM; 16P13.11; PREDISPOSE; CALCIUM-CHANNELS; FEBRILE SEIZURES;

D O I：

10.1186/s42494-023-00118-3

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页数：13

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