Gene: KCNQ1

Alternate names for this Gene: ATFB1|ATFB3|JLNS1|KCNA8|KCNA9|KVLQT1|Kv1.9|Kv7.1|LQT|LQT1|RWS|SQT2|WRS

Gene Summary: This gene encodes a voltage-gated potassium channel required for repolarization phase of the cardiac action potential. This protein can form heteromultimers with two other potassium channel proteins, KCNE1 and KCNE3. Mutations in this gene are associated with hereditary long QT syndrome 1 (also known as Romano-Ward syndrome), Jervell and Lange-Nielsen syndrome, and familial atrial fibrillation. This gene exhibits tissue-specific imprinting, with preferential expression from the maternal allele in some tissues, and biallelic expression in others. This gene is located in a region of chromosome 11 amongst other imprinted genes that are associated with Beckwith-Wiedemann syndrome (BWS), and itself has been shown to be disrupted by chromosomal rearrangements in patients with BWS. Alternatively spliced transcript variants have been found for this gene.

Gene is located in Chromosome: 11

Location in Chromosome : 11p15.5-p15.4

Description of this Gene: potassium voltage-gated channel subfamily Q member 1

Type of Gene: protein-coding

rs79972789 in KCNQ1 gene and Age at menopause PMID 23424626 2013 Genetic variation and reproductive timing: African American women from the Population Architecture using Genomics and Epidemiology (PAGE) Study.

rs179785 in KCNQ1 gene and Arthritis, Gouty PMID 25967671 2015 Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese.

rs120074192 in KCNQ1 gene and Atrial Fibrillation, Familial, 3 PMID 12522251 2003 KCNQ1 gain-of-function mutation in familial atrial fibrillation.

rs234864 in KCNQ1 gene and Birth Weight PMID 31043758 2019 Maternal and fetal genetic effects on birth weight and their relevance to cardio-metabolic risk factors.

rs143840904 in KCNQ1 gene and Body Height PMID 31562340 2019 Characterizing rare and low-frequency height-associated variants in the Japanese population.

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 25282103 2014 Defining the role of common variation in the genomic and biological architecture of adult human height.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

PMID 25429064 2015 Meta-analysis of genome-wide association studies of adult height in East Asians identifies 17 novel loci.

rs2237892 in KCNQ1 gene and Body mass index PMID 24861553 2014 The association of BMI with rs2237892, rs671 and rs12229654 was significantly stronger among men than among women.

PMID 28892062 2017 Genome-wide association study identifies 112 new loci for body mass index in the Japanese population.

rs2237892 in KCNQ1 gene and Body mass index procedure PMID 24861553 2014 The association of BMI with rs2237892, rs671 and rs12229654 was significantly stronger among men than among women.

rs120074186 in KCNQ1 gene and Congenital long QT syndrome PMID 12702160 2003 KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.

PMID 19841300 2009 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

PMID 26546361 2015 Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.

PMID 15781747 2005 Images in cardiovascular medicine. Himalayan T waves in the congenital long-QT syndrome.

PMID 23392653 2013 Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.

PMID 22949429 2012 Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 27831900 2016 Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 18580685 2008 A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.

PMID 20421371 2010 Mechanistic basis for LQT1 caused by S3 mutations in the KCNQ1 subunit of IKs.

PMID 23844633 2014 LQTS in Northern BC: homozygosity for KCNQ1 V205M presents with a more severe cardiac phenotype but with minimal impact on auditory function.

PMID 25444851 2015 Microscopic mechanisms for long QT syndrome type 1 revealed by single-channel analysis of I(Ks) with S3 domain mutations in KCNQ1.

PMID 25453094 2014 Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.

PMID 10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PMID 11530100 2001 A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.

PMID 11140949 2000 Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.

PMID 15051636 2004 Compound mutations: a common cause of severe long-QT syndrome.

PMID 17905336 2007 Long QT and Brugada syndrome gene mutations in New Zealand.

PMID 17470695 2007 Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

PMID 14678125 2003 Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

PMID 16818214 2006 Following primer redesign to eliminate the possibility of allelic dropout, four previously genotype-negative index cases were found to possess LQTS-causing mutations: R591H-KCNQ1 and R594Q-KCNQ1 for exon 15 and E229X-KCNH2 in two unrelated cases.

PMID 25935074 2015 Long QT syndrome with mutations in three genes: A rare case.

PMID 27041150 2016 KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

PMID 29532034 2018 Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

PMID 28944242 2017 Autosomal recessive long QT syndrome, type 1 in eight families from Saudi Arabia.

PMID 16556865 2006 Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations.

PMID 9693036 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

PMID 24357532 2014 KCNQ1 long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia.

PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

PMID 15466642 2004 Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.

PMID 11087258 2000 Mechanisms of I(Ks) suppression in LQT1 mutants.

PMID 23130128 2012 Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome.

PMID 22727609 2013 Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing.

PMID 22456477 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.

PMID 24606995 2014 Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

PMID 19590188 2009 Long QT syndrome-associated mutations in the voltage sensor of I(Ks) channels.

PMID 9927399 1999 Low penetrance in the long-QT syndrome: clinical impact.

PMID 23631430 2013 Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

PMID 22539601 2012 Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.

PMID 24666684 2015 Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome.

PMID 10704188 1999 Jervell and Lange-Nielsen syndrome: a Norwegian perspective.

PMID 10560595 1999 Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.

PMID 12051962 2002 Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.

PMID 27485560 2016 Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

PMID 26669661 2016 Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

rs1554919471 in KCNQ1 gene and Congenital sensorineural hearing loss PMID 29372044 2018 Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.

rs2237892 in KCNQ1 gene and Coronary heart disease PMID 21347282 2011 Genome-wide association study of coronary heart disease and its risk factors in 8,090 African Americans: the NHLBI CARe Project.

rs143709408 in KCNQ1 gene and Creatinine measurement, serum (procedure) PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

rs163171 in KCNQ1 gene and Diabetes Mellitus, Non-Insulin-Dependent PMID 22158537 2011 Meta-analysis of genome-wide association studies identifies eight new loci for type 2 diabetes in east Asians.

PMID 20818381 2010 A genome-wide association study in the Japanese population identifies susceptibility loci for type 2 diabetes at UBE2E2 and C2CD4A-C2CD4B.

PMID 28406950 2017 Among them, rs10761745 (JMJD1C) and rs163177 (KCNQ1) were prospectively associated with T2D.

PMID 20174558 2010 A genome-wide association study identifies susceptibility variants for type 2 diabetes in Han Chinese.

PMID 21799836 2011 A genome-wide association study confirms previously reported loci for type 2 diabetes in Han Chinese.

PMID 23300278 2013 Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India.

PMID 28869590 2017 Identification of new susceptibility loci for type 2 diabetes and shared etiological pathways with coronary heart disease.

PMID 28254843 2017 Genetics of Type 2 Diabetes in U.S. Hispanic/Latino Individuals: Results From the Hispanic Community Health Study/Study of Latinos (HCHS/SOL).

PMID 22885922 2012 Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes.

PMID 24509480 2014 Genome-wide trans-ancestry meta-analysis provides insight into the genetic architecture of type 2 diabetes susceptibility.

PMID 22325160 2012 Large-scale gene-centric meta-analysis across 39 studies identifies type 2 diabetes loci.

PMID 22961080 2013 A genome-wide association study identifies GRK5 and RASGRP1 as type 2 diabetes loci in Chinese Hans.

PMID 21647700 2011 Genome-wide association and meta-analysis in populations from Starr County, Texas, and Mexico City identify type 2 diabetes susceptibility loci and enrichment for expression quantitative trait loci in top signals.

PMID 23945395 2014 Genome-wide association study identifies three novel loci for type 2 diabetes.

PMID 30054458 2018 Genome-wide association analyses identify 143 risk variants and putative regulatory mechanisms for type 2 diabetes.

PMID 18711367 2008 The association of KCNQ1 with type 2 diabetes was replicated in populations of Korean, Chinese and European ancestry as well as in two independent Japanese populations, and meta-analysis with a total of 19,930 individuals (9,569 cases and 10,361 controls) yielded a P value of 1.7 x 10(-42) (OR = 1.40; 95% CI = 1.34-1.47) for rs2237892.

PMID 19401414 2009 Confirmation of multiple risk Loci and genetic impacts by a genome-wide association study of type 2 diabetes in the Japanese population.

PMID 20174558 2010 We also confirmed that variants in KCNQ1 were associated with T2D risk, with the strongest signal at rs2237895 (P = 9.65x10(-10); OR = 1.29, 95% CI = 1.19-1.40).

PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

PMID 26818947 2016 Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes.

PMID 31118516 2019 Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls.

PMID 24390345 2014 Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.

PMID 18711366 2008 The association of these SNPs with type 2 diabetes was replicated in samples from Singaporean (additive model: rs2237895, P = 8.5 x 10(-3); OR = 1.14, rs2237897, P = 2.4 x 10(-4); OR = 1.22) and Danish populations (additive model: rs2237895, P = 3.7 x 10(-11); OR = 1.24, rs2237897, P = 1.2 x 10(-4); OR = 1.36).

PMID 30718926 2019 Identification of 28 new susceptibility loci for type 2 diabetes in the Japanese population.

PMID 25102180 2014 Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes.

PMID 21874001 2011 Genome-wide association study in individuals of South Asian ancestry identifies six new type 2 diabetes susceptibility loci.

PMID 24101674 2014 A genome-wide association study in American Indians implicates DNER as a susceptibility locus for type 2 diabetes.

rs2237892 in KCNQ1 gene and Finding of body mass index PMID 24861553 2014 Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.

rs143709408 in KCNQ1 gene and Glomerular Filtration Rate PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

PMID 26831199 2016 Genetic associations at 53 loci highlight cell types and biological pathways relevant for kidney function.

PMID 30604766 2019 Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies.

PMID 31152163 2019 A catalog of genetic loci associated with kidney function from analyses of a million individuals.

PMID 31451708 2019 Mapping eGFR loci to the renal transcriptome and phenome in the VA Million Veteran Program.

PMID 28452372 2017 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function.

rs2411884 in KCNQ1 gene and Glucose measurement PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs179785 in KCNQ1 gene and Gout PMID 25967671 2015 Genome-wide association analysis identifies three new risk loci for gout arthritis in Han Chinese.

rs2075870 in KCNQ1 gene and Height PMID 21194676 2011 Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height.

PMID 20881960 2010 Hundreds of variants clustered in genomic loci and biological pathways affect human height.

rs143709408 in KCNQ1 gene and Hyperuricemia PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

rs120074186 in KCNQ1 gene and Jervell And Lange-Nielsen Syndrome 1 PMID 25705178 2015 Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

PMID 18441444 2008 A novel mutation associated with Jervell and Lange-Nielsen syndrome in a Japanese family.

PMID 18400097 2008 Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.

PMID 10728423 2000 Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.

PMID 9781056 1998 Heterozygous mutation in the pore of potassium channel gene KvLQT1 causes an apparently normal phenotype in long QT syndrome.

PMID 10090886 1999 Mutations in a dominant-negative isoform correlate with phenotype in inherited cardiac arrhythmias.

PMID 29372044 2018 Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.

PMID 28595573 2017 A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.

rs17215500 in KCNQ1 gene and Jervell-Lange Nielsen Syndrome PMID 24552659 2014 The R518X/KCNQ1 mutation is a common cause of autosomal recessive (Jervell and Lange Nielsen Syndrome- JLNS) and autosomal dominant long QT syndrome (LQTS) worldwide.

PMID 10704188 1999 Jervell and Lange-Nielsen syndrome: a Norwegian perspective.

PMID 22539601 2012 Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.

PMID 23098067 2012 Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

PMID 14510661 2003 Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).

PMID 10482963 1999 Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.

PMID 22309168 2012 Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel.

PMID 24912595 2014 Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.

PMID 26546361 2015 Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 15466642 2004 Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.

PMID 11530100 2001 A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.

PMID 10560595 1999 Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.

PMID 23631430 2013 Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

PMID 24666684 2015 Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome.

PMID 12051962 2002 Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.

rs143709408 in KCNQ1 gene and Kidney Failure, Chronic PMID 29124443 2018 Identification of CDC42BPG as a novel susceptibility locus for hyperuricemia in a Japanese population.

rs10832134 in KCNQ1 gene and Leukemia, Myelocytic, Acute PMID 27903959 2017 Genome-wide haplotype association study identify the FGFR2 gene as a risk gene for acute myeloid leukemia.

rs1060500621 in KCNQ1 gene and Long QT Syndrome PMID 27041096 2016 Compound Mutations Cause Increased Cardiac Events in Children with Long QT Syndrome: Can the Sequence Homology-Based Tools be Applied for Prediction of Phenotypic Severity?

PMID 26675252 2015 QT Adaptation and Intrinsic QT Variability in Congenital Long QT Syndrome.

PMID 26669661 2016 Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

PMID 10704188 1999 Jervell and Lange-Nielsen syndrome: a Norwegian perspective.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 23631430 2013 Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory.

PMID 11530100 2001 A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 19841300 2009 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

PMID 18752142 2008 Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers.

PMID 17470695 2007 Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.

PMID 10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PMID 22456477 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.

PMID 24912595 2014 Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.

PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

PMID 20138589 2010 A new homozygous mutation of the KCNQ1 gene associated with both Romano-Ward and incomplete Jervell Lange-Nielsen syndromes in two sisters.

PMID 10728423 2000 Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.

PMID 10376919 1999 Functional effects of mutations in KvLQT1 that cause long QT syndrome.

PMID 20660394 2010 Patient-specific induced pluripotent stem-cell models for long-QT syndrome.

PMID 22629021 2012 Genotype-phenotype analysis of three Chinese families with Jervell and Lange-Nielsen syndrome.

PMID 8528244 1996 Positional cloning of a novel potassium channel gene: KVLQT1 mutations cause cardiac arrhythmias.

PMID 24947509 2014 Novel Kv7.1-phosphatidylinositol 4,5-bisphosphate interaction sites uncovered by charge neutralization scanning.

PMID 9386136 1997 KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.

PMID 15234419 2004 Mutation site-specific differences in arrhythmic risk and sensitivity to sympathetic stimulation in the LQT1 form of congenital long QT syndrome: multicenter study in Japan.

PMID 15466642 2004 Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 12820704 2003 The second mutation, V254M in KCNQ1, co-segregated with higher QT intervals and symptoms in other family members, and was previously reported in another LQTS family.

PMID 12702160 2003 KCNQ1 mutations in patients with a family history of lethal cardiac arrhythmias and sudden death.

PMID 9799083 1998 Genomic organization and mutational analysis of KVLQT1, a gene responsible for familial long QT syndrome.

PMID 20487114 2010 Fetal atrioventricular block and postpartum augmentative QT prolongation in a patient with long-QT syndrome with KCNQ1 mutation.

PMID 10024302 1999 Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

PMID 11162126 2001 Characterization and subcellular localization of KCNQ1 with a heterozygous mutation in the C terminus.

PMID 19959132 2009 We hypothesized that failure of trafficking-deficient KCNQ1-T587M to enhance KCNH2 membrane expression could reduce KCNH2 current versus wild-type KCNQ1 (KCNQ1-WT), contributing to the LQTS phenotype of KCNQ1-T587M carriers.

PMID 24217263 2013 Long QT syndrome in South Africa: the results of comprehensive genetic screening.

PMID 20348026 2010 Trafficking-competent KCNQ1 variably influences the function of HERG long QT alleles.

PMID 25344363 2014 LQT1 mutations in KCNQ1 C-terminus assembly domain suppress IKs using different mechanisms.

PMID 23098067 2012 Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

PMID 28619993 2017 One of the most common and potentially life-threatening electrolyte disturbances is hypokalemia, characterized by low concentrations of K<sup>+</sup> Using a multielectrode array platform and current clamp technique, we investigated the effect of low extracellular K<sup>+</sup> concentration ([K<sup>+</sup>]<sub>Ex</sub>) on the electrophysiological properties of hiPSC-derived cardiomyocytes (CMs) generated from a healthy control subject (WT) and from two symptomatic patients with type 1 of LQTS carrying G589D (LQT1A) or IVS7-2A>G mutation (LQT1B) in <i>KCNQ1</i> The baseline prolongations of field potential durations (FPDs) and action potential durations (APDs) were longer in LQT1-CMs than in WT-CMs.

PMID 19160088 2009 High prevalence of four long QT syndrome founder mutations in the Finnish population.

PMID 20659946 2010 A history of stressful life events, prolonged mental stress and arrhythmic events in inherited long QT syndrome.

PMID 22095730 2012 Dominant-negative control of cAMP-dependent IKs upregulation in human long-QT syndrome type 1.

PMID 10483966 1999 Sinus node function and ventricular repolarization during exercise stress test in long QT syndrome patients with KvLQT1 and HERG potassium channel defects.

PMID 11216980 2001 A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.

PMID 9312006 1997 Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.

PMID 15176425 2004 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.

PMID 12051962 2002 Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.

PMID 24184248 2014 A molecular mechanism for adrenergic-induced long QT syndrome.

PMID 20044973 2010 Structural and functional changes in a synthetic S5 segment of KvLQT1 channel as a result of a conserved amino acid substitution that occurs in LQT1 syndrome of human.

PMID 12522251 2003 KCNQ1 gain-of-function mutation in familial atrial fibrillation.

PMID 16627448 2006 Phenotype reveals genotype in a Greek long QT syndrome family.

PMID 16246960 2005 Phenotypic variability and unusual clinical severity of congenital long-QT syndrome in a founder population.

PMID 17984373 2007 In a South African (SA) founder population, we identified a common LQTS type 1 (LQT1)-causing mutation (KCNQ1-A341V) associated with high clinical severity.

PMID 15028050 2004 Additional gene variants reduce effectiveness of beta-blockers in the LQT1 form of long QT syndrome.

PMID 21854832 2011 Partial restoration of the long QT syndrome associated KCNQ1 A341V mutant by the KCNE1 β-subunit.

PMID 10086971 1999 C-terminal HERG mutations: the role of hypokalemia and a KCNQ1-associated mutation in cardiac event occurrence.

PMID 26187847 2015 Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

PMID 29033053 2018 Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.

PMID 18580685 2008 A KCNQ1 V205M missense mutation causes a high rate of long QT syndrome in a First Nations community of northern British Columbia: a community-based approach to understanding the impact.

PMID 23844633 2014 Given the lack of prelingual deafness the homozygous V205M LQTS patients present with a phenotype more typical of RWS than JLNS.

PMID 14998624 2004 Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.

PMID 19862833 2009 The genetic basis of long QT and short QT syndromes: a mutation update.

PMID 9323054 1997 Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

PMID 25705178 2015 Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

PMID 24552659 2014 The study included 19 Swedish p.R518X index families, ascertained by molecular genetics methods (101 mutation-carriers, whereof 15 JLNS cases and 86 LQTS cases).

PMID 22539601 2012 Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.

PMID 23392653 2013 Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.

PMID 10482963 1999 Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.

PMID 9693036 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

PMID 23130128 2012 Genotype- and Sex-Specific QT-RR Relationship in the Type-1 Long-QT Syndrome.

PMID 19490272 2009 Mutations in conserved amino acids in the KCNQ1 channel and risk of cardiac events in type-1 long-QT syndrome.

PMID 17905336 2007 Long QT and Brugada syndrome gene mutations in New Zealand.

PMID 21810471 2011 Identification and functional characterization of KCNQ1 mutations around the exon 7-intron 7 junction affecting the splicing process.

PMID 9654228 1998 Novel donor splice site mutation in the KVLQT1 gene is associated with long QT syndrome.

PMID 18599533 2008 Mechanisms by which atrial fibrillation-associated mutations in the S1 domain of KCNQ1 slow deactivation of IKs channels.

PMID 24818999 2014 Short QT syndrome manifesting with neonatal atrial fibrillation and bradycardia.

PMID 24006450 2013 Selective targeting of gain-of-function KCNQ1 mutations predisposing to atrial fibrillation.

PMID 16109388 2005 De novo KCNQ1 mutation responsible for atrial fibrillation and short QT syndrome in utero.

PMID 23375927 2013 Long-term follow-up of a pediatric cohort with short QT syndrome.

PMID 11668638 2001 Automated mutation screening using dideoxy fingerprinting and capillary array electrophoresis.

PMID 19934648 2010 PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions.

PMID 27761162 2016 Molecular pathogenesis of long QT syndrome type 1.

PMID 24667783 2015 Genetic analysis, in silico prediction, and family segregation in long QT syndrome.

PMID 17227916 2007 The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes.

PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PMID 23350853 2013 A KCNQ1 mutation causes a high penetrance for familial atrial fibrillation.

PMID 24861447 2014 Early repolarization is associated with symptoms in patients with type 1 and type 2 long QT syndrome.

PMID 20850564 2011 R231C mutation in KCNQ1 causes long QT syndrome type 1 and familial atrial fibrillation.

PMID 22199116 2012 Variants in the 3' untranslated region of the KCNQ1-encoded Kv7.1 potassium channel modify disease severity in patients with type 1 long QT syndrome in an allele-specific manner.

PMID 18713323 2008 Phenotypic variability in Caucasian and Japanese patients with matched LQT1 mutations.

PMID 10409658 1999 Long QT syndrome-associated mutations in the S4-S5 linker of KvLQT1 potassium channels modify gating and interaction with minK subunits.

PMID 23124029 2012 Fetal heart rate predictors of long QT syndrome.

PMID 23158531 2012 Vagal reflexes following an exercise stress test: a simple clinical tool for gene-specific risk stratification in the long QT syndrome.

PMID 12402336 2002 DHPLC analysis of potassium ion channel genes in congenital long QT syndrome.

PMID 22708720 2013 Identification of a novel KCNQ1 mutation in a large Saudi family with long QT syndrome: clinical consequences and preventive implications.

PMID 11021476 2000 Hypokalemia-induced long QT syndrome with an underlying novel missense mutation in S4-S5 linker of KCNQ1.

PMID 22949429 2012 Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

PMID 21350584 2011 Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.

PMID 26346102 2015 Characterization of a Chinese KCNQ1 mutation (R259H) that shortens repolarization and causes short QT syndrome 2.

PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

PMID 24291113 2014 Novel insight into the natural history of short QT syndrome.

PMID 18400097 2008 Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family.

PMID 23092362 2012 High-risk long QT syndrome mutations in the Kv7.1 (KCNQ1) pore disrupt the molecular basis for rapid K(+) permeation.

PMID 23000022 2012 The present study was designed to determine the G325R ion channel phenotype and its association with the clinical LQTS presentation.

PMID 21118729 2011 Elevated serum gastrin levels in Jervell and Lange-Nielsen syndrome: a marker of severe KCNQ1 dysfunction?

PMID 23571586 2013 Both KV7.1-A283T (16-week male) and KV7.1-R397W (16-week female) mutations were associated with marked KV7.1 loss-of-function consistent with in utero LQTS type 1, whereas the HERG1b-R25W mutation (33.2-week male) exhibited a loss of function consistent with in utero LQTS type 2.

PMID 24190995 2013 Intracellular ATP binding is required to activate the slowly activating K+ channel I(Ks).

PMID 21185501 2011 Risk for life-threatening cardiac events in patients with genotype-confirmed long-QT syndrome and normal-range corrected QT intervals.

PMID 26159999 2015 Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval.

PMID 23728945 2013 Left cardiac sympathetic denervation in long QT syndrome: analysis of therapeutic nonresponders.

PMID 14678125 2003 Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

PMID 23251633 2012 Hexachlorophene is a potent KCNQ1/KCNE1 potassium channel activator which rescues LQTs mutants.

PMID 25559286 2015 PIP₂-dependent coupling is prominent in Kv7.1 due to weakened interactions between S4-S5 and S6.

PMID 24681627 2014 A long QT mutation substitutes cholesterol for phosphatidylinositol-4,5-bisphosphate in KCNQ1 channel regulation.

PMID 16556866 2006 KCNQ1 assembly and function is blocked by long-QT syndrome mutations that disrupt interaction with calmodulin.

PMID 15746441 2005 In the present study, we show that PIP2 affinity is reduced in three KCNQ1 mutant channels (R243H, R539W, and R555C) associated with the long QT syndrome.

PMID 21576493 2011 KCNE1 enhances phosphatidylinositol 4,5-bisphosphate (PIP2) sensitivity of IKs to modulate channel activity.

PMID 25037568 2014 Long QT mutations at the interface between KCNQ1 helix C and KCNE1 disrupt I(KS) regulation by PKA and PIP₂.

PMID 24372464 2015 Genotype-phenotype analysis of Jervell and Lange-Nielsen syndrome in six families from Saudi Arabia.

PMID 22429796 2012 End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome.

PMID 11140949 2000 Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen.

PMID 25453094 2014 Recessive cardiac phenotypes in induced pluripotent stem cell models of Jervell and Lange-Nielsen syndrome: disease mechanisms and pharmacological rescue.

PMID 15051636 2004 Compound mutations: a common cause of severe long-QT syndrome.

PMID 24218437 2013 In utero diagnosis of long QT syndrome by magnetocardiography.

PMID 20662986 2011 Ion channel mechanisms related to sudden cardiac death in phenotype-negative long-QT syndrome genotype-phenotype correlations of the KCNQ1(S349W) mutation.

PMID 16818214 2006 Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results.

PMID 15935335 2005 Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).

PMID 24357532 2014 KCNQ1 long QT syndrome patients have hyperinsulinemia and symptomatic hypoglycemia.

PMID 16556865 2006 Calmodulin is essential for cardiac IKS channel gating and assembly: impaired function in long-QT mutations.

PMID 17224687 2007 Whole blood RNA offers a rapid, comprehensive approach to genetic diagnosis of cardiovascular diseases.

PMID 19590188 2009 Long QT syndrome-associated mutations in the voltage sensor of I(Ks) channels.

PMID 21451124 2011 Use of mutant-specific ion channel characteristics for risk stratification of long QT syndrome patients.

PMID 11087258 2000 Mechanisms of I(Ks) suppression in LQT1 mutants.

PMID 9927399 1999 Low penetrance in the long-QT syndrome: clinical impact.

PMID 22727609 2013 Clinical characteristics of 30 Czech families with long QT syndrome and KCNQ1 and KCNH2 gene mutations: importance of exercise testing.

PMID 24606995 2014 Mutations in Danish patients with long QT syndrome and the identification of a large founder family with p.F29L in KCNH2.

PMID 1467812 1993 Activity-dependent development of spinal cord motor neurons.

PMID 27026747 2016 Probability of diagnosing long QT syndrome in children and adolescents according to the criteria of the HRS/EHRA/APHRS expert consensus statement.

PMID 19808498 2009 By using in vitro electrophysiological testing of transfected mutant and wild-type long-QT syndrome constructs into Chinese hamster ovary cells, we investigated the biophysical properties of 9 KCNQ1 missense mutations (A46T, T265I, F269S, A302V, G316E, F339S, R360G, H455Y, and S546L) identified in a New Zealand-based long-QT syndrome screening program.

PMID 9702906 1998 A novel mutation in KVLQT1 is the molecular basis of inherited long QT syndrome in a near-drowning patient's family.

PMID 22956155 2013 Next generation diagnostics in inherited arrhythmia syndromes : a comparison of two approaches.

PMID 24388587 2014 Genetic variants for long QT syndrome among infants and children from a statewide newborn hearing screening program cohort.

PMID 14510661 2003 Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).

PMID 10560595 1999 Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.

PMID 9164812 1997 Molecular basis of the long-QT syndrome associated with deafness.

PMID 24666684 2015 Marked, transient, emotion-triggered QT accentuation in an adolescent female with type 1 long QT syndrome.

PMID 25187895 2014 Large deletion in KCNQ1 identified in a family with Jervell and Lange-Nielsen syndrome.

PMID 19825999 2009 Novel mechanisms of trafficking defect caused by KCNQ1 mutations found in long QT syndrome.

PMID 16981927 2006 The homozygous KCNQ1 gene mutation associated with recessive Romano-Ward syndrome.

PMID 27041150 2016 KCNQ1 mutations associated with Jervell and Lange-Nielsen syndrome and autosomal recessive Romano-Ward syndrome in India-expanding the spectrum of long QT syndrome type 1.

PMID 27485560 2016 Phenotype guided characterization and molecular analysis of Indian patients with long QT syndromes.

rs104894252 in KCNQ1 gene and Long QT Syndrome 1 PMID 9641694 1998 A recessive variant of the Romano-Ward long-QT syndrome?

PMID 8818942 1996 Evidence of a long QT founder gene with varying phenotypic expression in South African families.

PMID 9272155 1997 The long QT syndrome: a novel missense mutation in the S6 region of the KVLQT1 gene.

PMID 9570196 1998 New mutations in the KVLQT1 potassium channel that cause long-QT syndrome.

PMID 9693036 1998 Genomic structure of three long QT syndrome genes: KVLQT1, HERG, and KCNE1.

PMID 24184248 2014 A molecular mechanism for adrenergic-induced long QT syndrome.

PMID 9312006 1997 Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.

PMID 9386136 1997 KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 9482580 1998 Molecular genetics of the long QT syndrome: two novel mutations of the KVLQT1 gene and phenotypic expression of the mutant gene in a large kindred.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 9323054 1997 Dominant-negative KvLQT1 mutations underlie the LQT1 form of long QT syndrome.

PMID 25705178 2015 Cellular mechanisms of mutations in Kv7.1: auditory functions in Jervell and Lange-Nielsen syndrome vs. Romano-Ward syndrome.

PMID 16922724 2006 Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.

PMID 19808498 2009 Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.

PMID 9024139 1997 Four novel KVLQT1 and four novel HERG mutations in familial long-QT syndrome.

PMID 18165683 2008 The KCNQ1 (Kv7.1) COOH terminus, a multitiered scaffold for subunit assembly and protein interaction.

PMID 10367071 1999 [Congenital long QT syndrome. The value of genetics in prognostic evaluation].

PMID 10220146 1999 High-throughput single-strand conformation polymorphism analysis by automated capillary electrophoresis: robust multiplex analysis and pattern-based identification of allelic variants.

PMID 12442276 2002 KCNQ1 and KCNH2 mutations associated with long QT syndrome in a Chinese population.

PMID 21810866 2011 HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies: this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

PMID 16414944 2005 Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.

PMID 21241800 2011 Biophysical properties of mutant KCNQ1 S277L channels linked to hereditary long QT syndrome with phenotypic variability.

PMID 23994779 2013 Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 14678125 2003 Location of mutation in the KCNQ1 and phenotypic presentation of long QT syndrome.

PMID 12051962 2002 Compound heterozygous mutations in KvLQT1 cause Jervell and Lange-Nielsen syndrome.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 11216980 2001 A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics.

PMID 29033053 2018 Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.

PMID 10728423 2000 Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.

PMID 22949429 2012 Phylogenetic and physicochemical analyses enhance the classification of rare nonsynonymous single nucleotide variants in type 1 and 2 long-QT syndrome.

PMID 10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PMID 20850564 2011 Sixteen members from five other R231C-positive LQT1 families were genetically tested for 21 single nucleotide polymorphisms (SNPs) to determine if the FAF family had discriminatory SNPs associated with AF.

PMID 14998624 2004 Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations.

PMID 19843919 2009 Latent genetic backgrounds and molecular pathogenesis in drug-induced long-QT syndrome.

PMID 12205790 2002 [Congenital long QT syndrome in newborns].

PMID 22613981 2012 Overlapping cardiac phenotype associated with a familial mutation in the voltage sensor of the KCNQ1 channel.

PMID 15176425 2004 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.

rs231906 in KCNQ1 gene and Physical Activity Measurement PMID 28448500 2017 Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults.

rs120074185 in KCNQ1 gene and Prolonged QT interval PMID 15746441 2005 In the present study, we show that PIP2 affinity is reduced in three KCNQ1 mutant channels (R243H, R539W, and R555C) associated with the long QT syndrome.

PMID 22456477 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.

PMID 12877697 2003 Catecholamine-provoked microvoltage T wave alternans in genotyped long QT syndrome.

PMID 9386136 1997 In contrast, a missense mutation, Arg555Cys, identified in the C-terminal domain in 3 families, was associated with a significantly less pronounced QT prolongation (459+/-33 ms, n=41, versus 480+/-32 ms, n=70, P=.0012), and significantly lower percentages of symptomatic carriers (7 of 44, or 16%, P<.001) and sudden deaths (2 of 44, or 5%, P<.01).

PMID 26669661 2016 Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction.

PMID 19934648 2010 PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions.

PMID 14760488 2004 Genetic variations of KCNQ1, KCNH2, SCN5A, KCNE1, and KCNE2 in drug-induced long QT syndrome patients.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 18174212 2008 Kv7.1 (KCNQ1) properties and channelopathies.

PMID 29372044 2018 Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.

PMID 29033053 2018 Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.

PMID 28595573 2017 A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.

PMID 17227916 2007 The role of S4 charges in voltage-dependent and voltage-independent KCNQ1 potassium channel complexes.

PMID 24667783 2015 Genetic analysis, in silico prediction, and family segregation in long QT syndrome.

PMID 27761162 2016 Molecular pathogenesis of long QT syndrome type 1.

rs12271931 in KCNQ1 gene and QT interval feature (observable entity) PMID 29213071 2017 GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals.

PMID 20062063 2010 Several common variants modulate heart rate, PR interval and QRS duration.

PMID 19305409 2009 Common variants at ten loci modulate the QT interval duration in the QTSCD Study.

PMID 31217584 2019 Genetic analyses of diverse populations improves discovery for complex traits.

PMID 19305408 2009 Common variants at ten loci influence QT interval duration in the QTGEN Study.

PMID 24952745 2014 Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization.

PMID 30679814 2019 Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits.

PMID 25055868 2014 Genome-wide association study of electrocardiographic parameters identifies a new association for PR interval and confirms previously reported associations.

rs17215500 in KCNQ1 gene and Romano-Ward Syndrome PMID 10482963 1999 Recessive Romano-Ward syndrome associated with compound heterozygosity for two mutations in the KVLQT1 gene.

PMID 10704188 1999 Jervell and Lange-Nielsen syndrome: a Norwegian perspective.

PMID 23098067 2012 Founder mutations characterise the mutation panorama in 200 Swedish index cases referred for Long QT syndrome genetic testing.

PMID 24552659 2014 Phenotype, origin and estimated prevalence of a common long QT syndrome mutation: a clinical, genealogical and molecular genetics study including Swedish R518X/KCNQ1 families.

PMID 22539601 2012 Prevalence, mutation spectrum, and cardiac phenotype of the Jervell and Lange-Nielsen syndrome in Sweden.

PMID 24912595 2014 Cellular mechanisms underlying the increased disease severity seen for patients with long QT syndrome caused by compound mutations in KCNQ1.

PMID 14510661 2003 Novel compound heterozygous mutations in the KCNQ1 gene associated with autosomal recessive long QT syndrome (Jervell and Lange-Nielsen syndrome).

PMID 22309168 2012 Readthrough of long-QT syndrome type 1 nonsense mutations rescues function but alters the biophysical properties of the channel.

PMID 26546361 2015 Screen-based identification and validation of four new ion channels as regulators of renal ciliogenesis.

PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

PMID 23392653 2013 Prevalence and potential genetic determinants of sensorineural deafness in KCNQ1 homozygosity and compound heterozygosity.

PMID 19934648 2010 PKA and PKC partially rescue long QT type 1 phenotype by restoring channel-PIP2 interactions.

PMID 10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PMID 9386136 1997 KVLQT1 C-terminal missense mutation causes a forme fruste long-QT syndrome.

PMID 9312006 1997 Properties of KvLQT1 K+ channel mutations in Romano-Ward and Jervell and Lange-Nielsen inherited cardiac arrhythmias.

PMID 10560595 1999 Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome.

PMID 10728423 2000 Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.

PMID 21350584 2011 Recurrent and Founder Mutations in the Netherlands: the Long-QT Syndrome.

PMID 22429796 2012 End-recovery QTc: a useful metric for assessing genetic variants of unknown significance in long-QT syndrome.

PMID 19716085 2009 Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.

PMID 15466642 2004 Spectrum and frequency of cardiac channel defects in swimming-triggered arrhythmia syndromes.

rs120074195 in KCNQ1 gene and SHORT QT SYNDROME 2 (disorder) PMID 15159330 2004 Mutation in the KCNQ1 gene leading to the short QT-interval syndrome.

rs1554919471 in KCNQ1 gene and Syncope PMID 29372044 2018 Novel frameshift mutation in the KCNQ1 gene responsible for Jervell and Lange-Nielsen syndrome.

PMID 29033053 2018 Identification and characterization of a novel recessive KCNQ1 mutation associated with Romano-Ward Long-QT syndrome in two Iranian families.

rs7946012 in KCNQ1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs60808706 in KCNQ1 gene and Uric acid measurement (procedure) PMID 31578528 2019 Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels.

rs2411884 in KCNQ1 gene and elevated blood glucose level PMID 29403010 2018 Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases.

rs1554958045 in KCNQ1 gene and hearing impairment PMID 28595573 2017 A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.