Functional phenotype variations of two novel KV7.1 mutations identified in patients with Long QT syndrome

ConclusionBoth mutations, KV7.1 A150T and L374H, led to loss of channel function. The degree of loss ‐of‐function may mirror the disease phenotype observed in the patients.This article is protected by copyright. All rights reserved

Source: Pacing and Clinical Electrophysiology : PACE - January 2, 2020 Category: Cardiology Authors: Sofia Hammami Bomholtz, Marwan Refaat, Annette Buur Steffensen, Jens ‐Peter David, Karin Espinosa, Robert Nussbaum, Julianne Wojciak, Bo Hjorth Bentzen, Melvin Scheinman, Nicole Schmitt Tags: ELECTROPHYSIOLOGY Source Type: research