Associated Papers
Chemical and Genetic Knockout Identifies KCNQ2 as the Principal Background Voltage-gated Potassium Current in Human Embryonic Kidney 293 Cells.
O'Neill MJ et al.
Heart Rhythm, 2026
Treatable Neonatal Molybdenum Cofactor Deficiency: Rapid Demise Despite Rapid Biochemical Diagnosis.
Crenshaw MM et al.
Jimd Reports, 2026
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
Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.
Pan X et al.
Channels (austin, Tex.), 2025
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
Clinical characteristics and gene analysis of long QT syndrome in 15 children.
Yiwei L et al.
Frontiers in Pediatrics, 2025
Analysis of 14,392 whole genomes reveals 3.5% of Qataris carry medically actionable variants.
Elfatih A et al.
European Journal of Human Genetics : Ejhg, 2024
NaV1.5 autoantibodies in Brugada syndrome: pathogenetic implications.
Tarantino A et al.
European Heart Journal, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer cohort.
Hammer-Hansen S et al.
European Journal of Human Genetics : Ejhg, 2024
Rare disease gene association discovery from burden analysis of the 100,000 Genomes Project data.
Cipriani V et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
Assessment of absolute risk of life-threatening cardiac events in long QT syndrome patients.
Wang M et al.
Frontiers in Cardiovascular Medicine, 2022
Penetrance and outcomes at 1-year following return of actionable variants identified by genome sequencing.
Lee C et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Long-QT founder variant T309I-Kv7.1 with dominant negative pattern may predispose delayed afterdepolarizations under β-adrenergic stimulation.
Synková I et al.
Scientific Reports, 2021
Nationwide germline whole genome sequencing of 198 consecutive pediatric cancer patients reveals a high incidence of cancer prone syndromes.
Byrjalsen A et al.
Plos Genetics, 2020
Frequency of genomic secondary findings among 21,915 eMERGE network participants.
Unknown Author
Genetics in Medicine : Official Journal of the American College of Medical 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
Even pore-localizing missense variants at highly conserved sites in KCNQ1-encoded Kv7.1 channels may have wild-type function and not cause type 1 long QT syndrome: Do not rely solely on the genetic test company's interpretation.
Paquin A et al.
Heartrhythm Case Reports, 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
Genotype influence in responses to therapy for atrial fibrillation.
Huang H et al.
Expert Review of Cardiovascular Therapy, 2016
Cardiac Delayed Rectifier Potassium Channels in Health and Disease.
Chen L et al.
Cardiac Electrophysiology Clinics, 2016
IKs Gain- and Loss-of-Function in Early-Onset Lone Atrial Fibrillation.
Steffensen AB et al.
Journal of Cardiovascular Electrophysiology, 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
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
Very early-onset lone atrial fibrillation patients have a high prevalence of rare variants in genes previously associated with atrial fibrillation.
Olesen MS et al.
Heart Rhythm, 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
Congenital long-QT syndrome in Addison's disease: a novel association.
Lang SM et al.
Pediatric Cardiology, 2012
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
Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
Yang T et al.
Circulation. Arrhythmia and Electrophysiology, 2009
Long QT and Brugada syndrome gene mutations in New Zealand.
Chung SK et al.
Heart Rhythm, 2007
Postmortem long QT syndrome genetic testing for sudden unexplained death in the young.
Tester DJ et al.
Journal of the American College of 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
Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.
Choi G et al.
Circulation, 2004