The genetic basis of long QT and short QT syndromes: a mutation update

PL Hedley, P Jørgensen, S Schlamowitz… - Human …, 2009 - Wiley Online Library
Long QT and short QT syndromes (LQTS and SQTS) are cardiac repolarization
abnormalities that are characterized by length perturbations of the QT interval as measured …

Inherited disorders of voltage-gated sodium channels

AL George - The Journal of clinical investigation, 2005 - Am Soc Clin Investig
A variety of inherited human disorders affecting skeletal muscle contraction, heart rhythm,
and nervous system function have been traced to mutations in genes encoding voltage …

Gene variant effects across sodium channelopathies predict function and guide precision therapy

A Brunklaus, T Feng, T Brünger, E Perez-Palma… - Brain, 2022 - academic.oup.com
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …

Current concepts in the mechanisms and management of drug-induced QT prolongation and torsade de pointes

A Gupta, AT Lawrence, K Krishnan, CJ Kavinsky… - American heart …, 2007 - Elsevier
Drug-induced long QT syndrome is characterized by a prolonged corrected QT interval
(QTc) and increased risk of a polymorphic ventricular tachycardia known as torsade de …

The genetics underlying acquired long QT syndrome: impact for genetic screening

H Itoh, L Crotti, T Aiba, C Spazzolini… - European heart …, 2016 - academic.oup.com
Aims Acquired long QT syndrome (aLQTS) exhibits QT prolongation and Torsades de
Pointes ventricular tachycardia triggered by drugs, hypokalaemia, or bradycardia …

Long QT syndrome: reduced repolarization reserve and the genetic link

DM Roden - Journal of internal medicine, 2006 - Wiley Online Library
Marked QT prolongation and torsades de pointes can occur not only in the congenital long
QT syndromes (LQTSs) but also as a consequence of environmental stimuli, notably …

Drug‐induced torsades de pointes and implications for drug development

RR Fenichel, M Malik, C Antzelevitch… - Journal of …, 2004 - Wiley Online Library
Torsades de pointes is a potentially lethal arrhythmia that occasionally appears as an
adverse effect of pharmacotherapy. Recently developed understanding of the underlying …

Non-cardiac QTc-prolonging drugs and the risk of sudden cardiac death

SMJM Straus, MCJM Sturkenboom… - European heart …, 2005 - academic.oup.com
Aims To assess the association between the use of non-cardiac QTc-prolonging drugs and
the risk of sudden cardiac death. Methods and results A population-based case–control …

Assessing predictors of drug-induced torsade de pointes

L Belardinelli, C Antzelevitch, MA Vos - Trends in pharmacological …, 2003 - cell.com
Torsades de pointes (TdP) is a malignant polymorphic ventricular tachyarrhythmia that can
be caused by drugs that induce electrophysiological changes. Although the number of drugs …

The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome

N Makita, E Behr, W Shimizu, M Horie… - The Journal of …, 2008 - Am Soc Clin Investig
Phenotypic overlap of type 3 long QT syndrome (LQT3) with Brugada syndrome (BrS) is
observed in some carriers of mutations in the Na channel SCN5A. While this overlap is …