A Novel Mutation in <i>KCNQ1</i> Associated with a Potent Dominant Negative Effect as the Basis for the LQT1 Form of the Long QT Syndrome

Abstract

Our data suggest that a DeltaF275 mutation in KCNQ1 is associated with a very potent dominant negative effect leading to an almost complete loss of function of IKs and that this defect underlies a LQT1 form of LQTS.