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Article

Functional phenotype variations of two novel KV 7.1 mutations identified in patients with Long QT syndrome.

Pacing and clinical electrophysiology : PACE - 1 Feb 2020

Hammami Bomholtz Sofia, Refaat Marwan, Buur Steffensen Annette, David Jens-Peter, Espinosa Karin, Nussbaum Robert, Wojciak Julianne, Hjorth Bentzen Bo, Scheinman Melvin, Schmitt Nicole

Abstract excerpt

BACKGROUND: The slow delayed rectifier potassium current IKs is crucial for the repolarization of the cardiac action potential. It is conducted by the voltage-gated channel KV 7.1 encoded by KCNQ1, together with its β-subunit KCNE1. Loss-of-function (LOF) mutations in KCNQ1 have been associated with heritable cardiac arrhythmias such as Long QT syndrome (LQTS). This disease is characterized by prolonged...

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PMID: 31899541
DOI: 10.1111/pace.13870

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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