Epilepsy-associated SCN2A (Na(V)1.2) variants exhibit diverse and complex functional properties

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Pathogenic variants in voltage-gated sodium (Na(V)) channel genes including SCN2A, encoding Na(V)1.2, are discovered frequently in neurodevelopmental disorders with or without epilepsy. SCN2A is also a high-confidence risk gene for autism spectrum disorder (ASD) and nonsyndromic intellectual disabil...

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Detalles Bibliográficos
Autores principales: Thompson, Christopher H., Potet, Franck, Abramova, Tatiana V., DeKeyser, Jean-Marc, Ghabra, Nora F., Vanoye, Carlos G., Millichap, John J., George, Alfred L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10424433/
https://www.ncbi.nlm.nih.gov/pubmed/37578743
http://dx.doi.org/10.1085/jgp.202313375

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10424433/
https://www.ncbi.nlm.nih.gov/pubmed/37578743
http://dx.doi.org/10.1085/jgp.202313375

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