Abstract
Generalized epilepsy with febrile seizures plus is caused by mutations in one of five different ion channel subunits, with the majority of the mutations in the SCN1A gene encoding the Na v 1.1 voltage-gated sodium channel. The functional effects of many of those mutations have been determined by expression in Xenopus oocytes, which has shown that some mutations increase sodium channel activity whereas others decrease it. Computer modeling was used to predict how the alterations might alter neuronal excitability, and has shown that most (but not all) mutations lead to increased repetitive firing. The effects of the mutations are now being examined in native cells by construction and analysis of mouse models.
Published Version
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
