Mapping Structural Distribution and Gating-Property Impacts of Disease-Associated Missense Mutations in Voltage-Gated Sodium Channels

Thousands of voltage-gated sodium (Nav) channel variants contribute to a variety of disorders, including epilepsy, autism, cardiac arrhythmia, and pain disorders. Yet variant effects of more mutations remain unclear. The conventional gain-of-function (GoF) or loss-of-function (LoF) classifications i...

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Detalles Bibliográficos
Autores principales: Ahangar, Amin Akbari, Elhanafy, Eslam, Blanton, Hayden, Li, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10541146/
https://www.ncbi.nlm.nih.gov/pubmed/37781633
http://dx.doi.org/10.1101/2023.09.20.558623

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