Referenced in: none

Automatically associated channels: Kir2.3 , Kv2.1 , Nav1.6

Title: De novo gain-of-function and loss-of-function mutations of SCN8A in patients with intellectual disabilities and epilepsy.

Authors: Maxime G Blanchard, Marjolein H Willemsen, Jaclyn B Walker, Sulayman D Dib-Hajj, Stephen G Waxman, Marjolijn C J Jongmans, Tjitske Kleefstra, Bart P Van de Warrenburg, Peter Praamstra, Joost Nicolai, Helger G Yntema, René J M Bindels, Miriam H Meisler, Erik-Jan Kamsteeg

Journal, date & volume: J. Med. Genet., 2015 May , 52, 330-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/25725044

Abstract