Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations

• Main Authors: Malcolm Hoshi, Xi X. Du, Krekwit Shinlapawittayatorn, Haiyan Liu, Sam Chai, Xiaoping Wan, Eckhard Ficker, Isabelle Deschênes
• Format: Journal
• Published: 2018
• Online Access: https://www.scopus.com/inward/record.uri?partnerID=HzOxMe3b&scp=84903591807&origin=inward; http://cmuir.cmu.ac.th/jspui/handle/6653943832/45522
• Institution: Chiang Mai University

Background-Brugada syndrome (BrS) is an arrhythmogenic disorder that has been linked to mutations in SCN5A, the gene encoding for the pore-forming a-subunit of the cardiac sodium channel. Typically, BrS mutations in SCN5A result in a reduction of sodium current with some mutations even exhibiting a...