Clinical and functional reappraisal of alleged type 5 long QT syndrome: Causative genetic variants in the KCNE1-encoded minK β-subunit

KCNE1 loss-of-function variants cause type 5 long QT syndrome (LQT5). However, most alleged LQT5-causative KCNE1 variants were identified before the true rate of background genetic variation was appreciated fully.

Source: Heart Rhythm - February 9, 2020 Category: Cardiology Authors: Ramin Garmany, John R. Giudicessi, Dan Ye, Wei Zhou, David J. Tester, Michael J. Ackerman Source Type: research