An epilepsy-associated K(V)1.2 charge-transfer-center mutation impairs K(V)1.2 and K(V)1.4 trafficking

We report on a heterozygous KCNA2 variant in a child with epilepsy. KCNA2 encodes K(V)1.2 subunits, which form homotetrameric potassium channels and participate in heterotetrameric channel complexes with other K(V)1-family subunits, regulating neuronal excitability. The mutation causes substitution...

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Detalles Bibliográficos
Autores principales: Nilsson, Michelle, Lindström, Sarah H., Kaneko, Maki, Wang, Kaiqian, Minguez-Viñas, Teresa, Angelini, Marina, Steccanella, Federica, Holder, Deborah, Ottolia, Michela, Olcese, Riccardo, Pantazis, Antonios
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2022
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169947/
https://www.ncbi.nlm.nih.gov/pubmed/35439054
http://dx.doi.org/10.1073/pnas.2113675119

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9169947/
https://www.ncbi.nlm.nih.gov/pubmed/35439054
http://dx.doi.org/10.1073/pnas.2113675119

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