Referenced in: none

Automatically associated channels: Nav1.6

Title: De novo SCN8A mutation identified by whole-exome sequencing in a boy with neonatal epileptic encephalopathy, multiple congenital anomalies, and movement disorders.

Authors: Ulvi Vaher, Margit Nõukas, Tiit Nikopensius, Mart Kals, Tarmo Annilo, Mari Nelis, Katrin Ounap, Tiia Reimand, Inga Talvik, Pilvi Ilves, Andres Piirsoo, Enn Seppet, Andres Metspalu, Tiina Talvik

Journal, date & volume: J. Child Neurol., 2014 Dec , 29, NP202-6

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/24352161

Abstract