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 …
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 …
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
Pathogenic variants in the voltage-gated sodium channel gene family lead to early onset
epilepsies, neurodevelopmental disorders, skeletal muscle channelopathies, peripheral …
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 …
(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 …
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 …
QT syndromes (LQTSs) but also as a consequence of environmental stimuli, notably …
Drug‐induced torsades de pointes and implications for drug development
Torsades de pointes is a potentially lethal arrhythmia that occasionally appears as an
adverse effect of pharmacotherapy. Recently developed understanding of the underlying …
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 …
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 …
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
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 …
observed in some carriers of mutations in the Na channel SCN5A. While this overlap is …