Cardiophile MD Archive

Posts Tagged ‘SCN5A mutations account for only 20-25% of clinically confirmed cases of Brugada syndrome

New gene for Brugada syndrome

Posted by: Johnson Francis on: 23 Oct, 2009

SCN5A mutations account for only 20-25% of clinically confirmed cases of Brugada syndrome. One more gene which has been recently associated with Brugada syndrome is: a. SCN4B b. CACNA1c c. GPD1-L d. HCN4 Answer: c Mutation in GPD1-L gene (BrS2)encoding for the protein glycerol-6-phosphate dehydrogenase with loss of function results in reduced outward sodium current [...]