Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders
编码染色质重塑因子的EP400基因变异会导致伴有神经发育障碍的癫痫。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2024.11.010
Luo, Sheng; Wang, Peng-Yu; Zhou, Peng; Zhang, Wen-Jun; Gu, Yu-Jie; Liang, Xiao-Yu; Zhang, Jing-Wen; Luo, Jun-Xia; Zhang, Hong-Wei; Lan, Song; Zhang, Ting-Ting; Yang, Jie-Hua; Sun, Su-Zhen; Guo, Xiang-Yang; Wang, Ju-Li; Deng, Lin-Fan; Xu, Ze-Hai; Jin, Liang; He, Yun-Yan; Ye, Zi-Long; Gu, Wei-Yue; Li, Bing-Mei; Shi, Yi-Wu; Liu, Xiao-Rong; Yan, Hong-Jun; Yi, Yong-Hong; Jiang, Yu-Wu; Mao, Xiao; Li, Wen-Ling; Meng, Heng; Liao, Wei-Ping