Associated Papers
Long QT syndrome in children and adolescents: risk factors and outcomes in a large German cohort.
Lippert L et al.
European Heart Journal, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
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
Gene mutations in comorbidity of epilepsy and arrhythmia.
Yu C et al.
Journal of Neurology, 2023
Clinical impact of rare variants associated with inherited channelopathies: a 5-year update.
Sarquella-Brugada G et al.
Human Genetics, 2022
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Alterations in SLC4A2, SLC26A7 and SLC26A9 Drive Acid-Base Imbalance in Gastric Neuroendocrine Tumors and Uncover a Novel Mechanism for a Co-Occurring Polyautoimmune Scenario.
Calvete O et al.
Cells, 2021
KCNQ1 gene mutation and epilepsy in patient with long QT syndrome.
García Gozalo M et al.
Medicina Clinica, 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
A novel mutation KCNQ1p.Thr312del is responsible for long QT syndrome type 1.
Chen XM et al.
Heart and Vessels, 2019
Effects of protein-protein interactions and ligand binding on the ion permeation in KCNQ1 potassium channel.
Jalily Hasani H et al.
Plos One, 2018
Identification of KCNQ1 compound heterozygous mutations in three Chinese families with Jervell and Lange-Nielsen Syndrome.
Wang C et al.
Acta Oto-laryngologica, 2017
Whole-Exome Molecular Autopsy After Exertion-Related Sudden Unexplained Death in the Young.
Anderson JH et al.
Circulation. Cardiovascular Genetics, 2016
Improved Clinical Risk Stratification in Patients with Long QT Syndrome? Novel Insights from Multi-Channel ECGs.
Samol A et al.
Plos One, 2016
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
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.
Ruklisa D et al.
Genome Medicine, 2015
Electrophysiologic substrate in congenital Long QT syndrome: noninvasive mapping with electrocardiographic imaging (ECGI).
Vijayakumar R et al.
Circulation, 2014
Long QT syndrome. Electrical miscues of the heart.
Unknown Author
Mayo Clinic Health Letter (english Ed.), 2014
Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.
Lieve KV et al.
Genetic Testing and Molecular Biomarkers, 2013
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
Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.
Stattin EL et al.
Bmc Cardiovascular Disorders, 2012
Mutations in cytoplasmic loops of the KCNQ1 channel and the risk of life-threatening events: implications for mutation-specific response to β-blocker therapy in type 1 long-QT syndrome.
Barsheshet A et al.
Circulation, 2012
Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients.
Jons C et al.
Science Translational Medicine, 2011
Arrhythmia in heart and brain: KCNQ1 mutations link epilepsy and sudden unexplained death.
Goldman AM et al.
Science Translational Medicine, 2009
Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.
Jons C et al.
Journal of Cardiovascular Electrophysiology, 2009
The G314S KCNQ1 mutation exerts a dominant-negative effect on expression of KCNQ1 channels in oocytes.
Li W et al.
Biochemical and Biophysical Research Communications, 2009
Atrial Arrhythmias in long-QT syndrome under daily life conditions: a nested case control study.
Zellerhoff S et al.
Journal of Cardiovascular Electrophysiology, 2009
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
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
Tester DJ et al.
Heart Rhythm, 2005
Targeted point mutagenesis of mouse Kcnq1: phenotypic analysis of mice with point mutations that cause Romano-Ward syndrome in humans.
Casimiro MC et al.
Genomics, 2004
Compound mutations: a common cause of severe long-QT syndrome.
Westenskow P et al.
Circulation, 2004
Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.
Zareba W et al.
Journal of Cardiovascular Electrophysiology, 2003
Prolonged atrial action potential durations and polymorphic atrial tachyarrhythmias in patients with long QT syndrome.
Kirchhof P et al.
Journal of Cardiovascular Electrophysiology, 2003
Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.
Splawski I et al.
Circulation, 2000
[Hypokalemia, ventricular arrhythmia, ion channel defects, etc. Re: Conn syndrome and severe arrhythmia].
Novotný T et al.
Vnitrni Lekarstvi, 1999
Ion channel defects in cardiac arrhythmia.
Kirsch GE
The Journal of Membrane Biology, 1999
Molecular genetics of inherited long QT syndromes.
Geelen JL et al.
European Heart Journal, 1998
Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing.
Andrsova I et al.
Journal of Electrocardiology, 0
Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.
Neyroud N et al.
European Journal of Human Genetics : Ejhg, 0