Genetic mechanisms in generalized epilepsies  

作　　者：Xiaoqian Wang Xueyi Rao Jia Zhang Jing Gan 

机构地区：[1]Department of Pediatrics,West China Second University Hospital,Sichuan University,No.20,Section Three,South Renmin Road,Chengdu 610041,China [2]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

出　　处：《Acta Epileptologica》2023年第1期1-13,共13页癫痫学报（英文）

基　　金：Funding This work was supported by the National Natural Science Foundation of China(No.82071686);the Grant from Science and Technology Bureau of Sichuan province(No.2021YFS0093);the Grant from Research Fund of West China Second University Hospital(No.KL115,KL072);Graduate Education and Teaching Reform research project of Sichuan University(GSSCU2021156).

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 fgure out what accounts for a reliable gene for GGE,in another word,which gene has sufcient 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.

关 键 词：Genetic generalized epilepsies Genetic mechanism Susceptibility gene Copy number variations 

分 类 号：R742.1[医药卫生—神经病学与精神病学]