A platform cataloging variations of the gene coding for the alpha-1 subunit (Nav1.1) of neuronal voltage-gated sodium channels
Last update: 19Oct11
This purpose of this web site is to provide an up-to-date compilation of genetic variations in the SCN1A gene that alter the expression or function of Nav1.1. Associated phenotypes are mainly convulsive, including severe childhood epilepsies such as SMEI (Dravet syndrome), SMEB, ICEGTC, as well as more benign seizure disorders, like GEFS+ or FS.
Current total mutation count: 603 (includes new mutations)
Comments? Questions? Please email.
While not directly funded, this web site is the direct result of research supported by the American Epilepsy Foundation.