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De novo KCNK4 variant caused epilepsy with febrile seizures plus, neurodevelopmental abnormalities, and hypertrichosis

BackgroundEpilepsy with febrile seizures plus (EFS+) is a syndrome with a strong genetic component. Previously, variants in several genes encoding ion channels have been associated with EFS+. However, the etiology in the majority of patients remains undetermined.MethodsTrio-based whole-exome sequenc...

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Principais autores: Hong-Jun Yan, Wen-Hui Liu, Min-Xing Xu, Peng-Yu Wang, Yu-Jie Gu, Hua Li, Jing Guo, Sheng Luo
Formato: Artigo
Idioma:Inglês
Publicado: Frontiers Media S.A. 2025-03-01
Series:Frontiers in Genetics
Assuntos:
KCNK4
epilepsy with febrile seizures plus
phenotypic spectrum
spatiotemporal expression
phenotypic variation
Acceso en liña:https://www.frontiersin.org/articles/10.3389/fgene.2025.1499716/full
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