Pro-arrhythmic effects of gain-of-function potassium channel mutations in the short QT syndrome

JC Hancox, CY Du, A Butler… - … of the Royal …, 2023 - royalsocietypublishing.org
The congenital short QT syndrome (SQTS) is a rare condition characterized by abbreviated
rate-corrected QT (QTc) intervals on the electrocardiogram and by increased susceptibility to …

Emerging therapeutic targets in the short QT syndrome

JC Hancox, DG Whittaker, C Du, AG Stuart… - Expert opinion on …, 2018 - Taylor & Francis
ABSTRACT Introduction: Short QT Syndrome (SQTS) is a rare but dangerous condition
characterised by abbreviated repolarisation, atrial and ventricular arrhythmias and risk of …

A new KCNQ1 mutation at the S5 segment that impairs its association with KCNE1 is responsible for short QT syndrome

C Moreno, A Oliveras, A De La Cruz… - Cardiovascular …, 2015 - academic.oup.com
Aims KCNQ1 and KCNE1 encode Kv7. 1 and KCNE1, respectively, the pore-forming and the
accessory subunits of the slow delayed rectifier potassium current, I Ks. KCNQ1 mutations …

Preclinical short QT syndrome models: Studying the phenotype and drug-screening

X Fan, G Yang, J Kowitz, F Duru, AM Saguner… - EP …, 2022 - academic.oup.com
Cardiovascular diseases are the main cause of sudden cardiac death (SCD) in developed
and develo** countries. Inherited cardiac channelopathies are linked to 5–10% of SCDs …

Human Atrial Arrhythmogenesis and Sinus Bradycardia in KCNQ1-Linked Short QT Syndrome: Insights From Computational Modelling

DG Whittaker, MA Colman, H Ni, JC Hancox… - Frontiers in …, 2018 - frontiersin.org
Atrial fibrillation (AF) and sinus bradycardia have been reported in patients with short QT
syndrome variant 2 (SQT2), which is underlain by gain-of-function mutations in KCNQ1 …

Anti‐malarial drugs: Mechanisms underlying their proarrhythmic effects

K Saadeh, N Nantha Kumar, IT Fazmin… - British journal of …, 2022 - Wiley Online Library
Malaria remains the leading cause of parasitic death in the world. Artemisinin resistance is
an emerging threat indicating an imminent need for novel combination therapy. Given the …

Cellular targets of mefloquine

DK Ghosh, A Kumar, A Ranjan - Toxicology, 2021 - Elsevier
Mefloquine is a quinoline-based compound widely used as an antimalarial drug, particularly
in chemoprophylaxis. Although decades of research have identified various aspects of …

In silico investigation of a KCNQ1 mutation associated with short QT syndrome

I Adeniran, DG Whittaker, A El Harchi, JC Hancox… - Scientific reports, 2017 - nature.com
Short QT syndrome (SQTS) is a rare condition characterized by abnormally 'short'QT
intervals on the ECG and increased susceptibility to cardiac arrhythmias and sudden death …

Action potential clamp characterization of the S631A hERG mutation associated with short QT syndrome

A Butler, Y Zhang, AG Stuart, CE Dempsey… - Physiological …, 2018 - Wiley Online Library
The hERG potassium channel is critical to normal repolarization of cardiac action potentials
(AP s) and loss‐and gain‐of‐function hERG mutations are associated, respectively, with …

PA-6 inhibits inward rectifier currents carried by V93I and D172N gain-of-function KIR2.1 channels, but increases channel protein expression

Y Ji, MG Veldhuis, J Zandvoort, FL Romunde… - Journal of Biomedical …, 2017 - Springer
Background The inward rectifier potassium current I K1 contributes to a stable resting
membrane potential and phase 3 repolarization of the cardiac action potential. KCNJ2 gain …