Associated Papers
Left ventricular hypertrabeculation is a novel predictor of life-threatening arrhythmic events in long QT syndrome patients.
Yang J et al.
Orphanet Journal of Rare Diseases, 2025
Determination of Genotype and Phenotypes in Pediatric Patients With Biventricular Noncompaction.
Hirono K et al.
Journal of the American Heart Association, 2024
Estimating the probability of early afterdepolarizations and predicting arrhythmic risk associated with long QT syndrome type 1 mutations.
Jin Q et al.
Biophysical Journal, 2023
Mechanisms of fever-induced QT prolongation and torsades de pointes in patients with KCNH2 mutation.
Usuda K et al.
Europace : European Pacing, Arrhythmias, and Cardiac Electrophysiology : Journal of the Working Groups on Cardiac Pacing, Arrhythmias, and Cardiac Cellular Electrophysiology of the European Society of Cardiology, 2023
Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report.
Caiffa T et al.
Frontiers in Pediatrics, 2022
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls.
Walsh R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
2019 HRS expert consensus statement on evaluation, risk stratification, and management of arrhythmogenic cardiomyopathy.
Towbin JA et al.
Heart Rhythm, 2019
Association of Genetic and Clinical Aspects of Congenital Long QT Syndrome With Life-Threatening Arrhythmias in Japanese Patients.
Shimizu W et al.
Jama Cardiology, 2019
Long QT Syndrome and Sinus Bradycardia-A Mini Review.
Wilders R et al.
Frontiers in Cardiovascular Medicine, 2018
Long QT syndrome and left ventricular noncompaction in 4 family members across 2 generations with KCNQ1 mutation.
Kharbanda M et al.
European Journal of Medical Genetics, 2017
Assessment of the predictive accuracy of five in silico prediction tools, alone or in combination, and two metaservers to classify long QT syndrome gene mutations.
Leong IU et al.
Bmc Medical Genetics, 2015
A Common Mutation of Long QT Syndrome Type 1 in Japan.
Itoh H et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
In silico cardiac risk assessment in patients with long QT syndrome: type 1: clinical predictability of cardiac models.
Hoefen R et al.
Journal of the American College of Cardiology, 2012
Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients.
Jons C et al.
Science Translational Medicine, 2011
Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan.
Horigome H et al.
Circulation. Arrhythmia and Electrophysiology, 2010
Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome.
Sato A et al.
The Journal of Biological Chemistry, 2009
Coinheritance of long QT syndrome and Kearns-Sayre syndrome.
Skinner JR et al.
Heart Rhythm, 2007
Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.
Moss AJ et al.
Circulation, 2007
Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients.
Fodstad H et al.
Annals of Medicine, 2006
Compound heterozygosity for mutations Asp611-->Tyr in KCNQ1 and Asp609-->Gly in KCNH2 associated with severe long QT syndrome.
Yamaguchi M et al.
Clinical Science (london, England : 1979), 2005
Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG.
Inoue M et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2003