Long QT syndrome
While loss-of-function mutations in KCNE1 cause Long QT syndrome, gain-of-function KCNE1 mutations are associated with early-onset atrial fibrillation. A common KCNE1 polymorphism, S38G, is associated with altered predisposition to lone atrial fibrillation and postoperative atrial fibrillation. Atrial KCNE1 expression was downregulated in a porcine model of post-operative atrial fibrillation following lung lobectomy.