Condition: Congenital long QT syndrome


rs74315445 in KCNE1 gene and Congenital long QT syndrome PMID 9354802 1997 Mutations in the hminK gene cause long QT syndrome and suppress IKs function.

PMID 24561134 2014 Exome sequencing implicates an increased burden of rare potassium channel variants in the risk of drug-induced long QT interval syndrome.

PMID 19008479 2008 Long QT syndrome-associated mutations in KCNQ1 and KCNE1 subunits disrupt normal endosomal recycling of IKs channels.

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 12566567 2003 Requirement of subunit expression for cAMP-mediated regulation of a heart potassium channel.

PMID 16818210 2006 Genotypic heterogeneity and phenotypic mimicry among unrelated patients referred for catecholaminergic polymorphic ventricular tachycardia genetic testing.

PMID 19340287 2009 Functional interactions between KCNE1 C-terminus and the KCNQ1 channel.

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

PMID 24400172 2013 Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.

PMID 11320260 2001 Distinct gene-specific mechanisms of arrhythmia revealed by cardiac gene transfer of two long QT disease genes, HERG and KCNE1.

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 19521339 2009 Intracellular domains interactions and gated motions of I(KS) potassium channel subunits.

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 9354783 1997 KCNE1 mutations cause jervell and Lange-Nielsen syndrome.

PMID 9445165 1998 Mutation of the gene for IsK associated with both Jervell and Lange-Nielsen and Romano-Ward forms of Long-QT syndrome.

rs199472910 in KCNH2 gene and Congenital long QT syndrome PMID 12808265 2003 Q-T peak dispersion in congenital long QT syndrome: possible marker of mutation of HERG.

PMID 27816319 2017 Contribution of a KCNH2 variant in genotyped long QT syndrome: Romano-Ward syndrome under double mutations and acquired long QT syndrome under heterozygote.

PMID 29766885 2016 Impact of Updated Diagnostic Criteria for Long QT Syndrome on Clinical Detection of Diseased Patients: Results From a Study of Patients Carrying Gene Mutations.

PMID 24057343 2014 Congenital long QT syndrome with compound mutations in the KCNH2 gene.

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

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

PMID 23303164 2013 An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.

PMID 16432067 2006 Most LQT2 mutations reduce Kv11.1 (hERG) current by a class 2 (trafficking-deficient) mechanism.

PMID 18441445 2008 Mutation site dependent variability of cardiac events in Japanese LQT2 form of 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 29431731 2018 Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.

PMID 28349240 2017 The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.

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

PMID 11009462 2000 Novel characteristics of a misprocessed mutant HERG channel linked to hereditary long QT syndrome.

PMID 19490267 2009 Not all hERG pore domain mutations have a severe phenotype: G584S has an inactivation gating defect with mild phenotype compared to G572S, which has a dominant negative trafficking defect and a severe phenotype.

PMID 10862094 2000 Survey of the coding region of the HERG gene in long QT syndrome reveals six novel mutations and an amino acid polymorphism with possible phenotypic effects.

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 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 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 11741928 2002 The binding site for channel blockers that rescue misprocessed human long QT syndrome type 2 ether-a-gogo-related gene (HERG) mutations.

PMID 16831322 2006 [Novel mutations of potassium channel KCNQ1 S145L and KCNH2 Y475C genes in Chinese pedigrees of long QT syndrome].

PMID 11278781 2001 Analysis of the cyclic nucleotide binding domain of the HERG potassium channel and interactions with KCNE2.

PMID 25158096 2015 The enigmatic cytoplasmic regions of KCNH channels.

PMID 12270925 2002 Interaction with GM130 during HERG ion channel trafficking. Disruption by type 2 congenital long QT syndrome mutations. Human Ether-à-go-go-Related Gene.

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 19695459 2009 D85N, a KCNE1 polymorphism, is a disease-causing gene variant in long QT syndrome.

PMID 11854117 2002 Increased risk of arrhythmic events in long-QT syndrome with mutations in the pore region of the human ether-a-go-go-related gene potassium channel.

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

PMID 21440677 2011 Mutation and gender-specific risk in type 2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome.

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.

rs397508091 in KCNQ1;KCNQ1OT1 gene and Congenital 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 19841300 2009 Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.

rs137854601 in SCN5A gene and Congenital long QT syndrome PMID 24871449 2014 High prevalence of the SCN5A E1784K mutation in school children with long QT syndrome living on the Okinawa islands.

PMID 21321465 2011 Identification of six novel SCN5A mutations in Japanese patients with Brugada syndrome.

PMID 18451998 2008 The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.

PMID 11901046 2002 Natural history of Brugada syndrome: insights for risk stratification and management.

PMID 16379539 2005 Gene sequencing in neonates and infants with the long QT syndrome.

PMID 10727653 2000 Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes.

PMID 10377081 1999 Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.

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