Long QT Syndrome 3 (LQTS3) arises from gain-of-function Nav1.5 mutations, prolonging action potential repolarisation and electrocardiographic (ECG) QT interval, associated with increased age-dependent risk for major arrhythmic events, and paradoxical responses to β-adrenergic agents. We investigated f...
channel (Ikr), which is important for cardiac repolarization. Mutations of the HERG gene that cause the dysfunction ofIkrmay lead to type 2 long QT syndrome (LQTS). Approximately 10% of mutations are nonsense mutations which introduce the premature termination codons into HERG gene (PTC) (1,2...
Novelli V, Baiardi P, Bagnardi V, Etheridge SP, Napolitano C, Priori SG (2016) Gene-specific therapy with mexiletine reduces arrhythmic events in patients with long QT syndrome type 3. J Am Coll Cardiol 67(9):1053–1058.