Associated Papers
Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.
Pan X et al.
Channels (austin, Tex.), 2025
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
A New High Penetrant Intronic Pathogenic Variant Related to Long QT Syndrome Type 2.
Rodríguez-Junquera M et al.
Journal of Clinical Medicine, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
Demographics, Clinical Features and Genetics of Common Inherited Arrhythmias in Oman.
Al Azri K et al.
Journal of the Saudi Heart Association, 2025
Implantable loop recorder uncovered torsades de pointes in long-QT syndrome type 1 with multi cause of syncope.
Nakayama H et al.
Journal of Cardiology Cases, 2024
A multitiered analysis platform for genome sequencing: Design and initial findings of the Australian Genomics Cardiovascular Disorders Flagship.
Austin R et al.
Genetics in Medicine Open, 2024
Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population.
Sieliwonczyk E et al.
Orphanet Journal of Rare Diseases, 2023
Functional Assays Reclassify Suspected Splice-Altering Variants of Uncertain Significance in Mendelian Channelopathies.
O'Neill MJ et al.
Circulation. Genomic and Precision Medicine, 2022
Effect of moderate potassium-elevating treatment in long QT syndrome: the TriQarr Potassium Study.
Marstrand P et al.
Open Heart, 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
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 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
Complex aberrant splicing in the induced pluripotent stem cell-derived cardiomyocytes from a patient with long QT syndrome carrying KCNQ1-A344Aspl mutation.
Wuriyanghai Y et al.
Heart Rhythm, 2018
Mechanistic insight into an exonic splice defect mutation from native induced pluripotent stem cell-derived cardiomyocytes.
Bhuiyan ZA
Heart Rhythm, 2018
Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience.
Mak CM et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2018
Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.
Koponen M et al.
Bmc Medical Genetics, 2018
Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.
Robyns T et al.
European Journal of Human Genetics : Ejhg, 2017
Clinical profile and mutation spectrum of long QT syndrome in Saudi Arabia: The impact of consanguinity.
Al-Hassnan ZN et al.
Heart Rhythm, 2017
KCNQ1 p.L353L affects splicing and modifies the phenotype in a founder population with long QT syndrome type 1.
Kapplinger JD et al.
Journal of Medical Genetics, 2017
Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome.
Wang C et al.
Acta Oto-laryngologica, 2017
Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.
Adadi N et al.
Journal of Medical Case Reports, 2017
Molecular Pathophysiology of Congenital Long QT Syndrome.
Bohnen MS et al.
Physiological Reviews, 2017
Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.
Adler A et al.
Circulation. Arrhythmia and Electrophysiology, 2016
Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.
Koponen M et al.
Circulation. Arrhythmia and Electrophysiology, 2015
Characterization of a novel KCNQ1 mutation for type 1 long QT syndrome and assessment of the therapeutic potential of a novel IKs activator using patient-specific induced pluripotent stem cell-derived cardiomyocytes.
Ma D et al.
Stem Cell Research & Therapy, 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
Novel KCNQ1 splicing mutation in patients with forme fruste LQT1 aggravated by hypokalemia.
Imai M et al.
Journal of Cardiology, 2014
Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.
Christiansen M et al.
Bmc Medical Genetics, 2014
Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.
Gao Y et al.
Journal of Cardiovascular Disease Research, 2012
Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process.
Tsuji-Wakisaka K et al.
Biochimica Et Biophysica Acta, 2011
Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.
Millat G et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2011
Beta1-adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome.
Paavonen KJ et al.
International Journal of Cardiology, 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
Mechanistic basis for the pathogenesis of long QT syndrome associated with a common splicing mutation in KCNQ1 gene.
Tsuji K et al.
Journal of Molecular and Cellular Cardiology, 2007
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
Four potassium channel mutations account for 73% of the genetic spectrum underlying long-QT syndrome (LQTS) and provide evidence for a strong founder effect in Finland.
Fodstad H et al.
Annals of Medicine, 2004
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
Splicing mutations in KCNQ1: a mutation hot spot at codon 344 that produces in frame transcripts.
Murray A et al.
Circulation, 1999
The known high-risk p.R190Q KCNQ1-variant needs a second hit for QTc prolongation.
Karabinos A et al.
Journal of Electrocardiology, 0