Associated Papers
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Integrative analysis of KCNQ1 variants reveals molecular mechanisms of type 1 long QT syndrome pathogenesis.
Brewer KR et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
A method of identifying the high-risk mutations of sudden cardiac death at KCNQ1 and KCNH2 genes.
Wang J et al.
Journal of Forensic and Legal Medicine, 2024
The electrophysiologic effects of KCNQ1 extend beyond expression of IKs: evidence from genetic and pharmacologic block.
Wada Y et al.
Cardiovascular Research, 2024
Molecular autopsy for sudden death in Japan.
Yamamoto T et al.
Journal of Toxicologic Pathology, 2024
Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness.
Zhao J et al.
Scientific Reports, 2022
Common Variants in KCNE1, KCNH2, and SCN5A May Impact Cardiac Arrhythmia Risk.
Vatta M et al.
Circulation. Genomic and Precision Medicine, 2021
Patients with coronary heart disease, dilated cardiomyopathy and idiopathic ventricular tachycardia share overlapping patterns of pathogenic variation in cardiac risk genes.
Guelly C et al.
Peerj, 2021
Genetic Variants on SCN5A, KCNQ1, and KCNH2 in Patients with Ventricular Arrhythmias during Acute Myocardial Infarction in a Chinese Population.
Wang F et al.
Cardiology, 2020
Are Variants Causing Cardiac Arrhythmia Risk Factors in Sudden Unexpected Death in Epilepsy?
Bleakley LE et al.
Frontiers in Neurology, 2020
Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.
Liu S et al.
Chinese Medical Journal, 2019
Relationship between KCNQ1 (LQT1) and KCNH2 (LQT2) gene mutations and sudden death during illegal drug use.
Nagasawa S et al.
Scientific Reports, 2018
No association between cardiac ion channel variants and sudden infant death.
Yamamoto T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2018
Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.
Clemens DJ et al.
Heart Rhythm, 2018
Classification and Reporting of Potentially Proarrhythmic Common Genetic Variation in Long QT Syndrome Genetic Testing.
Giudicessi JR et al.
Circulation, 2018
Implantable cardioverter defibrillator therapy in repaired tetralogy of Fallot after pulmonary valve replacement: Implications for the mechanism of ventricular arrhythmia.
Chiu SN et al.
International Journal of Cardiology, 2017
Sudden infant death syndrome due to long QT syndrome: a brief review of the genetic substrate and prevalence.
Ioakeimidis NS et al.
Journal of Biological Research (thessalonike, Greece), 2017
The Analysis of A Frequent TMPRSS3 Allele Containing P.V116M and P.V291L in A Cis Configuration among Deaf Koreans.
Kim AR et al.
International Journal of Molecular Sciences, 2017
Predicting the Functional Impact of KCNQ1 Variants of Unknown Significance.
Li B et al.
Circulation. Cardiovascular Genetics, 2017
Findings of a 1303 Korean whole-exome sequencing study.
Kwak SH et al.
Experimental & Molecular Medicine, 2017
Genotype-based clinical manifestation and treatment of Chinese long QT syndrome patients with KCNQ1 mutations - R380S and W305L.
Zhou H et al.
Cardiology in the Young, 2016
Using whole exome sequencing and bioformatics in the molecular autopsy of a sudden unexplained death syndrome (SUDS) case.
Wang C et al.
Forensic Science International, 2015
[High incidence of sudden cardiac death in one family with type-3 long QT syndrome: molecular genetics and electrophysiology mechanism analysis].
Zhou H et al.
Zhonghua Xin Xue Guan Bing Za Zhi, 2015
[Molecular Genetic Analysis of One Sudden Unexplained Death in the Young by Whole Exome Sequencing].
Wang C et al.
Fa Yi Xue Za Zhi, 2015
Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval.
Ghouse J et al.
European Heart Journal, 2015
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
Unveiling specific triggers and precipitating factors for fatal cardiac events in inherited arrhythmia syndromes.
Nakajima T et al.
Circulation Journal : Official Journal of the Japanese Circulation Society, 2015
Mutation Analysis of KCNQ1, KCNH2 and SCN5A Genes in Taiwanese Long QT Syndrome Patients.
Chang YS et al.
International Heart Journal, 2015
Achieving high-sensitivity for clinical applications using augmented exome sequencing.
Patwardhan A et al.
Genome Medicine, 2015
Cardiac channelopathy testing in 274 ethnically diverse sudden unexplained deaths.
Wang D et al.
Forensic Science International, 2014
Single-nucleotide variations in cardiac arrhythmias: prospects for genomics and proteomics based biomarker discovery and diagnostics.
Abunimer A et al.
Genes, 2014
Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.
Chang RK et al.
The Journal of Pediatrics, 2014
Molecular analysis of potassium ion channel genes in sudden death cases among patients administered psychotropic drug therapy: are polymorphisms in LQT genes a potential risk factor?
Kamei S et al.
Journal of Human Genetics, 2014
Genetic characteristics of children and adolescents with long-QT syndrome diagnosed by school-based electrocardiographic screening programs.
Yoshinaga M et al.
Circulation. Arrhythmia and Electrophysiology, 2014
Postmortem molecular analysis of KCNQ1, KCNH2, KCNE1 and KCNE2 genes in sudden unexplained nocturnal death syndrome in the Chinese Han population.
Liu C et al.
Forensic Science International, 2013
Do LQTS gene single nucleotide polymorphisms alter QTc intervals at rest and during exercise stress testing?
Aziz PF et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2013
[KCNQ1, KCNH2, KCNE1 and KCNE2 potassium channels gene variants in sudden manhood death syndrome].
Zhao QH et al.
Fa Yi Xue Za Zhi, 2012
High prevalence of genetic variants previously associated with LQT syndrome in new exome data.
Refsgaard L et al.
European Journal of Human Genetics : Ejhg, 2012
Coexisting mutations/polymorphisms of the long QT syndrome genes in patients with repaired Tetralogy of Fallot are associated with the risks of life-threatening events.
Chiu SN et al.
Human Genetics, 2012
A common variant near the KCNJ2 gene is associated with T-peak to T-end interval.
Marjamaa A et al.
Heart Rhythm, 2012
Beyond diabetes mellitus: close pathological association of mutations of the KCNQ1 gene with other systemic disorders.
Kapoor S
Annals of the Academy of Medicine, Singapore, 2012
A KCR1 variant implicated in susceptibility to the long QT syndrome.
Hayashi K et al.
Journal of Molecular and Cellular Cardiology, 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
Post myocardial ischemia-associated torsades de pointes in a patient carrying a KCNQ1 G643S variant.
Nakajima T et al.
Internal Medicine (tokyo, Japan), 2010
Comprehensive mutation scanning of KCNQ1 in 111 Han Chinese patients with lone atrial fibrillation.
Chen LY et al.
Heart Asia, 2010
Long QT syndrome and associated gene mutation carriers in Japanese children: results from ECG screening examinations.
Hayashi K et al.
Clinical Science (london, England : 1979), 2009