Gene variant effects across sodium channelopathies predict function and guide precision therapy

Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral neuropathies and cardiac arrhythmias. Disease-associated variants have diverse functional effects ranging from complete loss-o...

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Detalles Bibliográficos
Autores principales: Brunklaus, Andreas, Feng, Tony, Brünger, Tobias, Perez-Palma, Eduardo, Heyne, Henrike, Matthews, Emma, Semsarian, Christopher, Symonds, Joseph D, Zuberi, Sameer M, Lal, Dennis, Schorge, Stephanie
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2022
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9897196/
https://www.ncbi.nlm.nih.gov/pubmed/35037686
http://dx.doi.org/10.1093/brain/awac006

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9897196/
https://www.ncbi.nlm.nih.gov/pubmed/35037686
http://dx.doi.org/10.1093/brain/awac006

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