ATP6V0C Is Associated With Febrile Seizures and Epilepsy With Febrile Seizures Plus

PurposeTo identify novel genetic causes of febrile seizures (FS) and epilepsy with febrile seizures plus (EFS+).MethodsWe performed whole-exome sequencing in a cohort of 32 families, in which at least two individuals were affected by FS or EFS+. The probands, their parents, and available family memb...

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Detalhes bibliográficos
Main Authors: Yang Tian, Qiong-Xiang Zhai, Xiao-Jing Li, Zhen Shi, Chuan-Fang Cheng, Cui-Xia Fan, Bin Tang, Ying Zhang, Yun-Yan He, Wen-Bin Li, Sheng Luo, Chi Hou, Wen-Xiong Chen, Wei-Ping Liao, Jie Wang
Formato: Artigo
Idioma:Inglês
Publicado em: Frontiers Media S.A. 2022-05-01
Colecção:Frontiers in Molecular Neuroscience
Assuntos:
ATP6V0C
loss of function
febrile seizures
epilepsy with febrile seizures plus
whole-exome sequencing
Acesso em linha:https://www.frontiersin.org/articles/10.3389/fnmol.2022.889534/full
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