Pathogenic in-Frame Variants in SCN8A: Expanding the Genetic Landscape of SCN8A-Associated Disease

Numerous SCN8A mutations have been identified, of which, the majority are de novo missense variants. Most mutations result in epileptic encephalopathy; however, some are associated with less severe phenotypes. Mouse models generated by knock-in of human missense SCN8A mutations exhibit seizures and...

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Detalles Bibliográficos
Autores principales: Wong, Jennifer C., Butler, Kameryn M., Shapiro, Lindsey, Thelin, Jacquelyn T., Mattison, Kari A., Garber, Kathryn B., Goldenberg, Paula C., Kubendran, Shobana, Schaefer, G. Bradley, Escayg, Andrew
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/PMC8635767/
https://www.ncbi.nlm.nih.gov/pubmed/34867351
http://dx.doi.org/10.3389/fphar.2021.748415

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8635767/
https://www.ncbi.nlm.nih.gov/pubmed/34867351
http://dx.doi.org/10.3389/fphar.2021.748415

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