Article
De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.
Journal of medical genetics - 1 May 2015
Blanchard Maxime G, Willemsen Marjolein H, Walker Jaclyn B, Dib-Hajj Sulayman D, Waxman Stephen G, Jongmans Marjolijn C J, Kleefstra Tjitske, van de Warrenburg Bart P, Praamstra Peter, Nicolai Joost, Yntema Helger G, Bindels René J M, Meisler Miriam H, Kamsteeg Erik-Jan
Abstract excerpt
BACKGROUND: Mutations of SCN8A encoding the neuronal voltage-gated sodium channel NaV1.6 are associated with early-infantile epileptic encephalopathy type 13 (EIEE13) and intellectual disability. Using clinical exome sequencing, we have detected three novel de novo SCN8A mutations in patients with intellectual disabilities, and variable clinical features including seizures in two patients. To determine the...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.