Whole exome sequencing identifies KCNH7 variants associated with epilepsy in children  

作　　者：Fan Wu Xinna Ji Mengxiao Shen Peidi Cheng Shuo Feng Yanyan Gao Wanting Liu Jinxiao Chen Shupin Li Xue Zhang Qian Chen 

机构地区：[1]Department of Neurology,Children's Hospital Capital Institute of Pediatrics,Beijing 100020,China [2]Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China [3]State Key Laboratory of Medical Molecular Biology,Institute of Basic Medical Sciences,Chinese Academy of Medical Sciences&Peking Union Medical College,Beijing 100730,China

出　　处：《Genes & Diseases》2025年第2期76-78,共3页基因与疾病(英文)

基　　金：funded by National Key Research and Development Program of China (No.2022YFC2703903);Capital's Funds for Health Improvement and Research (China) (No.2022-2Z-2104);Rare disease Research Project Fund of E-town cooperation and development foundation (China) (No.YCXJ-JZ-2023-017).

摘　　要：The KCNH7(Potassium Voltage-Gated Channel Subfamily H Member 7)gene belongs to the Ether-A-Go-Go-Related Gene(ERG)subfamily of voltage-gated potassium channels.There are three members of the ERG family:ERG1,ERG2 and ERG3,with the latter being encoded by the KCNH7 gene.ERG1 is highly expressed in cardiomyocytes,and its mutations have been linked to arrhythmias,such as the long QT syndrome.

关 键 词：EPILEPSY WHOLE POTASSIUM 

分 类 号：R74[医药卫生—神经病学与精神病学]