Article
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
Heart rhythm - 1 Mar 2009
Meregalli Paola G, Tan Hanno L, Probst Vincent, Koopmann Tamara T, Tanck Michael W, Bhuiyan Zahurul A, Sacher Frederic, Kyndt Florence, Schott Jean-Jacques, Albuisson J, Mabo Philippe, Bezzina Connie R, Le Marec Herve, Wilde Arthur A M
Abstract excerpt
BACKGROUND: Patients carrying loss-of-function SCN5A mutations linked to Brugada syndrome (BrS) or progressive cardiac conduction disease (PCCD) are at risk of sudden cardiac death at a young age. The penetrance and expressivity of the disease are highly variable, and new tools for risk stratific...
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