Referenced in: none

Automatically associated channels: Nav1.5

Title: Compound heterozygous mutations in the SCN5A-encoded Nav1.5 cardiac sodium channel resulting in atrial standstill and His-Purkinje system disease.

Authors: Shankar Baskar, Michael J Ackerman, Diane Clements, Kenneth A Mayuga, Peter F Aziz

Journal, date & volume: J. Pediatr., 2014 Nov , 165, 1050-2

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/25171853

Abstract
An 11-year-old girl on evaluation for syncope was found to have progressive sinus node dysfunction and His-Purkinje system disease with atrial standstill. Genetic analysis revealed compound heterozygous mutations of the SCN5A gene in a novel combination.