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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Autori principali:	Hong-Jun Yan, Wen-Hui Liu, Min-Xing Xu, Peng-Yu Wang, Yu-Jie Gu, Hua Li, Jing Guo, Sheng Luo
Natura:	Artigo
Lingua:	Inglês
Pubblicazione:	Frontiers Media S.A. 2025-03-01
Serie:	Frontiers in Genetics
Soggetti:	KCNK4 epilepsy with febrile seizures plus phenotypic spectrum spatiotemporal expression phenotypic variation
Accesso online:	https://www.frontiersin.org/articles/10.3389/fgene.2025.1499716/full
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