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

• Principais autores: Jennifer C. Wong (Autor), Kameryn M. Butler (Autor), Lindsey Shapiro (Autor), Jacquelyn T. Thelin (Autor), Kari A. Mattison (Autor), Kathryn B. Garber (Autor), Paula C. Goldenberg (Autor), Shobana Kubendran (Autor), G. Bradley Schaefer (Autor), Andrew Escayg (Autor)
• Formato: Livro
• Publicado em: Frontiers Media S.A., 2021-11-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

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...