Mutations in the KCND3-Encoded Kv4.3 Potassium Ion Channel and Use in Diagnostic Methodologies for the Detection of Sudden Death-Predisposing Cardiac Channelopathies

Technology #2011-122

The present invention details mutations in the KCND3-encoded Kv4.3 potassium ion channel that are associated with sudden death predisposing genetic conditions such as Brugada syndrome (BrS) and long QT syndrome (LQTS) and the mechanism by which at risk individuals can be screend for potentially life threatening mutation isn this gene. This invention is based on the that mutations within the the Kv4.3 channel that confer a gain-of-function are associated with a BrS clinical phenotype (Type 9 BrS or BrS9), whereas mutations that result in a loss-of-function are associated with LQTS clinical phenotype (Type 14LQTS or LQT14). Screening for BrS-, LQTS-, or sudden death-associated mutations in KCND3 may aid in the identification of at-risk family members and allow for the development of genotype-specific therapeutic interventions.