Ontology highlight
ABSTRACT:
SUBMITTER: Tang B
PROVIDER: S-EPMC2735447 | biostudies-literature | 2009 Jul
REPOSITORIES: biostudies-literature
Tang Bin B Dutt Karoni K Papale Ligia L Rusconi Raffaella R Shankar Anupama A Hunter Jessica J Tufik Sergio S Yu Frank H FH Catterall William A WA Mantegazza Massimo M Goldin Alan L AL Escayg Andrew A
Neurobiology of disease 20090503 1
Mutations in the voltage-gated sodium channel SCN1A are responsible for a number of seizure disorders including Generalized Epilepsy with Febrile Seizures Plus (GEFS+) and Severe Myoclonic Epilepsy of Infancy (SMEI). To determine the effects of SCN1A mutations on channel function in vivo, we generated a bacterial artificial chromosome (BAC) transgenic mouse model that expresses the human SCN1A GEFS+ mutation, R1648H. Mice with the R1648H mutation exhibit a more severe response to the proconvulsa ...[more]