A novel mutation (T65P) in the PAS domain of the human potassium channel HERG results in the long QT syndrome by trafficking deficiency
A Paulussen, A Raes, G Matthijs, DJ Snyders… - Journal of Biological …, 2002 - ASBMB
The congenital long QT syndrome is a cardiac disease characterized by an increased
susceptibility to ventricular arrhythmias. The clinical hallmark is a prolongation of the QT
interval, which reflects a delay in repolarization caused by mutations in cardiac ion channel
genes. Mutations in the HERG (humane ther-à-go-go-relatedgene KCNH2 can cause a
reduction in I Kr, one of the currents responsible for cardiac repolarization. We describe the
identification and characterization of a novel missense mutation T65P in the PAS (Per-Arnt …
susceptibility to ventricular arrhythmias. The clinical hallmark is a prolongation of the QT
interval, which reflects a delay in repolarization caused by mutations in cardiac ion channel
genes. Mutations in the HERG (humane ther-à-go-go-relatedgene KCNH2 can cause a
reduction in I Kr, one of the currents responsible for cardiac repolarization. We describe the
identification and characterization of a novel missense mutation T65P in the PAS (Per-Arnt …
