Epilepsy-associated SCN2A (Na(V)1.2) Variants Exhibit Diverse and Complex Functional Properties

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

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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, George, Alfred L.
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/PMC9980081/
https://www.ncbi.nlm.nih.gov/pubmed/36865317
http://dx.doi.org/10.1101/2023.02.23.529757

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9980081/
https://www.ncbi.nlm.nih.gov/pubmed/36865317
http://dx.doi.org/10.1101/2023.02.23.529757

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