A novel three base-pair deletion in domain two of the cardiac sodium channel causes Brugada syndrome

Mutations within SCN5A are found in a significant proportion (15 –30%) of Brugada syndrome (BrS) cases and impair sodium transport across excitable cardiac cells that mediate ventricular contractions. Genetic testing offers a means to clinically assess and manage affected individuals and their family members.

Source: Journal of Electrocardiology - March 22, 2018 Category: Cardiology Authors: Boon Yew Tan, Luokai Wang, Mahesh Uttamchandani, Hector Barajas-Martinez, Robert Dumaine, Nathalie Morin, Chi Keong Ching, Kah Leng Ho, Daniel Thuan Tee Chong, Weien Chow, Eric Peng Huat Yap, Shabbir Moochhala, Dan Hu, Rita Yu Yin Yong, Wee Siong Teo Source Type: research