Referenced in: none

Automatically associated channels: Nav1.6

Title: De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP.

Authors: Krishna R Veeramah, Janelle E O'Brien, Miriam H Meisler, Xiaoyang Cheng, Sulayman D Dib-Hajj, Stephen G Waxman, Dinesh Talwar, Santhosh Girirajan, Evan E Eichler, Linda L Restifo, Robert P Erickson, Michael F Hammer

Journal, date & volume: Am. J. Hum. Genet., 2012 Mar 9 , 90, 502-10

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/22365152

Abstract