Novel Genetic Variants Expand the Functional, Molecular, and Pathological Diversity of KCNA1 Channelopathy

The KCNA1 gene encodes Kv1.1 voltage-gated potassium channel α subunits, which are crucial for maintaining healthy neuronal firing and preventing hyperexcitability. Mutations in the KCNA1 gene can cause several neurological diseases and symptoms, such as episodic ataxia type 1 (EA1) and epilepsy, wh...

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Detalles Bibliográficos
Autores principales: Paulhus, Kelsey, Glasscock, Edward
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10219020/
https://www.ncbi.nlm.nih.gov/pubmed/37240170
http://dx.doi.org/10.3390/ijms24108826

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10219020/
https://www.ncbi.nlm.nih.gov/pubmed/37240170
http://dx.doi.org/10.3390/ijms24108826

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