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
Mapping the Functional Landscape of KCNQ1 to Define Ion Channel Mechanisms and Arrhythmia Risk.
Harvey ML et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Predicting the Damaging Potential of Uncharacterized KCNQ1 and KCNE1 Variants.
Tarnovskaya SI et al.
International Journal of Molecular Sciences, 2025
Application of clinical exome sequencing in sperm donor screening in China.
Huang J et al.
Journal of Assisted Reproduction and Genetics, 2025
Congenital long QT syndrome caused by a KCNH2 pathogenic variant exhibiting "motor seizures": a case report and literature review.
Jin M et al.
Bmc Pediatrics, 2025
The importance of variant reinterpretation in inherited cardiovascular diseases: Establishing the optimal timeframe.
Fernandez-Falgueras A et al.
Plos One, 2024
Genetic Background of Epilepsy and Antiepileptic Treatments.
Borowicz-Reutt K et al.
International Journal of Molecular Sciences, 2023
Potassium channels in behavioral brain disorders. Molecular mechanisms and therapeutic potential: A narrative review.
Alam KA et al.
Neuroscience and Biobehavioral Reviews, 2023
Screening for Rare Coding Variants That Associate With the QTc Interval in Iceland.
Sveinbjornsson G et al.
Journal of the American Heart Association, 2023
Gene mutations in comorbidity of epilepsy and arrhythmia.
Yu C et al.
Journal of Neurology, 2023
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
ML277 regulates KCNQ1 single-channel amplitudes and kinetics, modified by voltage sensor state.
Eldstrom J et al.
The Journal of General Physiology, 2021
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
Antiepileptic rufinamide and QTc interval shortening in a patient with long QT syndrome: case report.
Mondal T et al.
European Heart Journal. Case Reports, 2020
Exome sequencing and characterization of 49,960 individuals in the UK Biobank.
Van Hout CV et al.
Nature, 2020
Variant frequencies of KCNQ1, KCNH2, and SCN5A in a Chinese inherited arrhythmia cohort and other disease cohorts undergoing genetic testing.
Li X et al.
Annals of Human Genetics, 2020
Compound and heterozygous mutations of KCNQ1 in long QT syndrome with familial history of unexplained sudden death: Identified by analysis of whole exome sequencing and predisposing genes.
Lin Y et al.
Annals of Noninvasive Electrocardiology : the Official Journal of the International Society for Holter and Noninvasive Electrocardiology, Inc, 2020
Structures Illuminate Cardiac Ion Channel Functions in Health and in Long QT Syndrome.
Brewer KR et al.
Frontiers in Pharmacology, 2020
Gating and Regulation of KCNQ1 and KCNQ1 + KCNE1 Channel Complexes.
Wang Y et al.
Frontiers in Physiology, 2020
Systematic Review of Genotype-Phenotype Correlations in Noncompaction Cardiomyopathy.
van Waning JI et al.
Journal of the American Heart Association, 2019
[The Function of Potassium Channel in KCNQ2 G271V Mutants of Benign Familial Neonatal Convulsions].
Hui ZY et al.
Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2018
Inactivation gating of Kv7.1 channels does not involve concerted cooperative subunit interactions.
Meisel E et al.
Channels (austin, Tex.), 2018
Inactivation of KCNQ1 potassium channels reveals dynamic coupling between voltage sensing and pore opening.
Hou P et al.
Nature Communications, 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
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
Clinical and genetic features of Australian families with long QT syndrome: A registry-based study.
Burns C et al.
Journal of Arrhythmia, 2016
Potassium Channels and Human Epileptic Phenotypes: An Updated Overview.
Villa C et al.
Frontiers in Cellular Neuroscience, 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
Further evidence of the association between LQT syndrome and epilepsy in a family with KCNQ1 pathogenic variant.
Tiron C et al.
Seizure, 2015
Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.
Al-Aama JY et al.
Clinical Genetics, 2015
Bayesian models for syndrome- and gene-specific probabilities of novel variant pathogenicity.
Ruklisa D et al.
Genome Medicine, 2015
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
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
Unexplained drownings and the cardiac channelopathies: a molecular autopsy series.
Tester DJ et al.
Mayo Clinic Proceedings, 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
Cardiac channelopathies and sudden infant death syndrome.
Tfelt-Hansen J et al.
Cardiology, 2011
Macrovolt T-wave alternans in an asymptomatic woman with long-QT syndrome: a rare but clinically significant finding.
Bennett MT et al.
Journal of Cardiovascular Electrophysiology, 2010
Epidemiologic, molecular, and functional evidence suggest A572D-SCN5A should not be considered an independent LQT3-susceptibility mutation.
Tester DJ et al.
Heart Rhythm, 2010
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