The L1624Q Variant in SCN1A Causes Familial Epilepsy Through a Mixed Gain and Loss of Channel Function

Variants of the SCN1A gene encoding the neuronal voltage-gated sodium channel Na(V)1.1 cause over 85% of all cases of Dravet syndrome, a severe and often pharmacoresistent epileptic encephalopathy with mostly infantile onset. But with the increased availability of genetic testing for patients with e...

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Detalles Bibliográficos
Autores principales: Jones, Laura B., Peters, Colin H., Rosch, Richard E., Owers, Maxine, Hughes, Elaine, Pal, Deb K., Ruben, Peter C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pharmacology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8675213/
https://www.ncbi.nlm.nih.gov/pubmed/34925043
http://dx.doi.org/10.3389/fphar.2021.788192

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8675213/
https://www.ncbi.nlm.nih.gov/pubmed/34925043
http://dx.doi.org/10.3389/fphar.2021.788192

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