Functional and pharmacological evaluation of a novel SCN2A variant linked to early‐onset epilepsy

OBJECTIVE: We identified a novel de novo SCN2A variant (M1879T) associated with infantile‐onset epilepsy that responded dramatically to sodium channel blocker antiepileptic drugs. We analyzed the functional and pharmacological consequences of this variant to establish pathogenicity, and to correlate...

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Detalles Bibliográficos
Autores principales: Adney, Scott K., Millichap, John J., DeKeyser, Jean‐Marc, Abramova, Tatiana, Thompson, Christopher H., George, Alfred L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2020
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480906/
https://www.ncbi.nlm.nih.gov/pubmed/32750235
http://dx.doi.org/10.1002/acn3.51105

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7480906/
https://www.ncbi.nlm.nih.gov/pubmed/32750235
http://dx.doi.org/10.1002/acn3.51105

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