Alternative splicing potentiates dysfunction of early-onset epileptic encephalopathy SCN2A variants

Epileptic encephalopathies are severe forms of infantile-onset epilepsy often complicated by severe neurodevelopmental impairments. Some forms of early-onset epileptic encephalopathy (EOEE) have been associated with variants in SCN2A, which encodes the brain voltage-gated sodium channel Na(V)1.2. Ma...

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Detalles Bibliográficos
Autores principales: Thompson, Christopher H., Ben-Shalom, Roy, Bender, Kevin J., George, Alfred L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Rockefeller University Press 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054859/
https://www.ncbi.nlm.nih.gov/pubmed/31995133
http://dx.doi.org/10.1085/jgp.201912442

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7054859/
https://www.ncbi.nlm.nih.gov/pubmed/31995133
http://dx.doi.org/10.1085/jgp.201912442

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