De novo Y1460C missense variant in Na(V)1.1 impedes the pore region and results in epileptic encephalopathy

Epilepsy is a common neurological disorder characterized by recurrent unprovoked seizures. SCN1A encodes Na(V)1.1, a neuronal voltage-gated Na(+) channel that is highly expressed throughout the central nervous system. Na(V)1.1 is localized within the axon initial segment where it plays a critical ro...

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Detalles Bibliográficos
Autores principales: Plumereau, Quentin, Ebdalla, Aya, Poulin, Hugo, Appendino, Juan Pablo, Scantlebury, Morris H., Au, Ping Yee Billie, Chahine, Mohamed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561119/
https://www.ncbi.nlm.nih.gov/pubmed/36229510
http://dx.doi.org/10.1038/s41598-022-22208-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9561119/
https://www.ncbi.nlm.nih.gov/pubmed/36229510
http://dx.doi.org/10.1038/s41598-022-22208-x

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