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Epilepsy-associated SCN2A (Na(V)1.2) Variants Exhibit Diverse and Complex Functional Properties
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...
Autores principales: | , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
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Cold Spring Harbor Laboratory
2023
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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 |
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por Thompson, Christopher H., Potet, Franck, Abramova, Tatiana V., DeKeyser, Jean-Marc, Ghabra, Nora F., Vanoye, Carlos G., Millichap, John J., George, Alfred L.
Publicado 2023
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Publicado 2023
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Online
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