Paradoxical hyperexcitability from Na(V)1.2 sodium channel loss in neocortical pyramidal cells

Loss-of-function variants in the gene SCN2A, which encodes the sodium channel Na(V)1.2, are strongly associated with autism spectrum disorder and intellectual disability. An estimated 20%–30% of children with these variants also suffer from epilepsy, with altered neuronal activity originating in neo...

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Detalles Bibliográficos
Autores principales: Spratt, Perry W.E., Alexander, Ryan P.D., Ben-Shalom, Roy, Sahagun, Atehsa, Kyoung, Henry, Keeshen, Caroline M., Sanders, Stephan J., Bender, Kevin J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8719649/
https://www.ncbi.nlm.nih.gov/pubmed/34348157
http://dx.doi.org/10.1016/j.celrep.2021.109483

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8719649/
https://www.ncbi.nlm.nih.gov/pubmed/34348157
http://dx.doi.org/10.1016/j.celrep.2021.109483

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