Ontology highlight
ABSTRACT:
SUBMITTER: Blanchard MG
PROVIDER: S-EPMC4413743 | biostudies-literature | 2015 May
REPOSITORIES: biostudies-literature
Blanchard Maxime G MG Willemsen Marjolein H MH Walker Jaclyn B JB Dib-Hajj Sulayman D SD Waxman Stephen G SG Jongmans Marjolijn C J MC Kleefstra Tjitske T van de Warrenburg Bart P BP Praamstra Peter P Nicolai Joost J Yntema Helger G HG Bindels René J M RJ Meisler Miriam H MH Kamsteeg Erik-Jan EJ
Journal of medical genetics 20150227 5
<h4>Background</h4>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 causality of these SCN8A mutations in the disease of those three patients, we aimed ...[more]