Missense variants in the N-terminal domain of the A isoform of FHF2/FGF13 cause an X-linked developmental and epileptic encephalopathy
FHF2/FGF13 A亚型N端结构域的错义变异会导致X连锁发育性癫痫性脑病。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2020.10.017
Fry, Andrew E; Marra, Christopher; Derrick, Anna V; Pickrell, William O; Higgins, Adam T; Te Water Naude, Johann; McClatchey, Martin A; Davies, Sally J; Metcalfe, Kay A; Tan, Hui Jeen; Mohanraj, Rajiv; Avula, Shivaram; Williams, Denise; Brady, Lauren I; Mesterman, Ronit; Tarnopolsky, Mark A; Zhang, Yuehua; Yang, Ying; Wang, Xiaodong; Rees, Mark I; Goldfarb, Mitchell; Chung, Seo-Kyung