Expanding the phenotypic spectrum of KCNK4: From syndromic neurodevelopmental disorder to rolandic epilepsy

The KCNK4 gene, predominantly distributed in neurons, plays an essential role in controlling the resting membrane potential and regulating cellular excitability. Previously, only two variants were identified to be associated with human disease, facial dysmorphism, hypertrichosis, epilepsy, intellect...

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Detalles Bibliográficos
Autores principales: Yan, Hong-Jun, He, Yun-yan, Jin, Liang, Guo, Qiang, Zhou, Jing-Hua, Luo, Sheng
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Molecular Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9851069/
https://www.ncbi.nlm.nih.gov/pubmed/36683851
http://dx.doi.org/10.3389/fnmol.2022.1081097

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9851069/
https://www.ncbi.nlm.nih.gov/pubmed/36683851
http://dx.doi.org/10.3389/fnmol.2022.1081097

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