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

• Main Authors: Jennifer C. Wong (Author), Kameryn M. Butler (Author), Lindsey Shapiro (Author), Jacquelyn T. Thelin (Author), Kari A. Mattison (Author), Kathryn B. Garber (Author), Paula C. Goldenberg (Author), Shobana Kubendran (Author), G. Bradley Schaefer (Author), Andrew Escayg (Author)
• Format: Book
• Published: Frontiers Media S.A., 2021-11-01T00:00:00Z.
• Subjects: article
• Online Access: 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...