Article
A mutation in the human cardiac sodium channel (E161K) contributes to sick sinus syndrome, conduction disease and Brugada syndrome in two families.
Journal of molecular and cellular cardiology - 1 Jun 2005
Smits Jeroen P P, Koopmann Tamara T, Wilders Ronald, Veldkamp Marieke W, Opthof Tobias, Bhuiyan Zahir A, Mannens Marcel M A M, Balser Jeffrey R, Tan Hanno L, Bezzina Connie R, Wilde Arthur A M
Abstract excerpt
BACKGROUND: Mutations in the gene encoding the human cardiac sodium channel (SCN5A) have been associated with three distinct cardiac arrhythmia disorders: the long QT syndrome, the Brugada syndrome and cardiac conduction disease. Here we report the biophysical features of a novel sodium channel mutation, E161K, which we identified in individuals of two non-related families with symptoms of bradycardia, sinus node...
Topics
- Acetylcholine
- Adult
- Arrhythmias, Cardiac
- Computer Simulation
- DNA Mutational Analysis
- Electrocardiography
- Electrophysiology
- Family Health
- Female
- Genotype