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Variable patterns of mutation density among Na(V)1.1, Na(V)1.2 and Na(V)1.6 point to channel-specific functional differences associated with childhood epilepsy

Variants implicated in childhood epilepsy have been identified in all four voltage-gated sodium channels that initiate action potentials in the central nervous system. Previous research has focused on the functional effects of particular variants within the most studied of these channels (Na(V)1.1,...

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Detalles Bibliográficos
Autores principales: Encinas, Alejandra C., Watkins, Joseph C., Longoria, Iris Arenas, Johnson, J. P., Hammer, Michael F.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7449494/
https://www.ncbi.nlm.nih.gov/pubmed/32845893
http://dx.doi.org/10.1371/journal.pone.0238121