Condition: Long QT Syndrome


rs587782933 in CACNA1C gene and Long QT Syndrome PMID 26822303 2016 Arrhythmogenesis in Timothy Syndrome is associated with defects in Ca(2+)-dependent inactivation.

PMID 25691416 2015 Expanding the phenotype of Timothy syndrome type 2: an adolescent with ventricular fibrillation but normal development.

PMID 24773605 2014 Exome sequencing helped the fine diagnosis of two siblings afflicted with atypical Timothy syndrome (TS2).

PMID 23979604 2014 A rare mutation of CACNA1C in a patient with bipolar disorder, and decreased gene expression associated with a bipolar-associated common SNP of CACNA1C in brain.

PMID 21685391 2011 Timothy mutation disrupts the link between activation and inactivation in Ca(V)1.2 protein.

PMID 15863612 2005 Severe arrhythmia disorder caused by cardiac L-type calcium channel mutations.

PMID 23677916 2013 This mutation, Pro857Arg-CACNA1C, cosegregated with the disease within the pedigree, was ranked by 3 disease-network algorithms as the most probable LQTS-susceptibility gene and involves a conserved residue localizing to the proline, gltamic acid, serine, and threonine (PEST) domain in the II-III linker.

PMID 26253506 2015 Through whole exome sequencing and expanded cohort screening, we identified a novel genetic substrate p.Arg518Cys/His-CACNA1C, in patients with a complex phenotype including LQTS, HCM, and congenital heart defects annotated as cardiac-only Timothy syndrome.

PMID 23578275 2014 Imaging diagnosis-ultrasonographic and CT findings in a gray seal (Halichoerus grypus) with hepatic cirrhosis, pyelonephritis, and nephrolithiasis.

PMID 23580742 2013 Timothy syndrome (TS) is a rare long-QT syndrome caused by CACNA1C mutations G406R in exon 8A (TS1) and G402S/G406R in exon 8 (TS2).

PMID 18250309 2008 The Timothy syndrome mutation differentially affects voltage- and calcium-dependent inactivation of CaV1.2 L-type calcium channels.

PMID 23690510 2013 Maternal mosaicism confounds the neonatal diagnosis of type 1 Timothy syndrome.

PMID 21910241 2011 Somatic mosaicism contributes to phenotypic variation in Timothy syndrome.

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

PMID 26227324 2015 Long QT syndrome with craniofacial, digital, and neurologic features: Is it useful to distinguish between Timothy syndrome types 1 and 2?

PMID 19074970 2009 The Timothy syndrome mutation of cardiac CaV1.2 (L-type) channels: multiple altered gating mechanisms and pharmacological restoration of inactivation.

PMID 15454078 2004 Ca(V)1.2 calcium channel dysfunction causes a multisystem disorder including arrhythmia and autism.

rs116840795 in CAV3;SSUH2 gene and Long QT Syndrome PMID 15099591 2004 A novel mutation in the caveolin-3 gene causing familial isolated hyperCKaemia.

PMID 27772553 2017 CAV3 mutation in a patient with transient hyperCKemia and myalgia.

PMID 22581547 2012 Myotonia associated with caveolin-3 mutation.

rs1131691762 in KCNE1 gene and 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 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 24400172 2013 Modification by KCNE1 variants of the hERG potassium channel response to premature stimulation and to pharmacological inhibition.

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

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.

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 10807545 2000 Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population.

PMID 24499369 2014 Verapamil may be of a therapeutic value in LQTS patients via preventing degradation of KCNE1-D85N.

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

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

PMID 19695459 2009 D85N, a KCNE1 polymorphism, is known to be a functional variant associated with drug-induced LQTS.

PMID 14661677 2003 Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome.

PMID 10428953 1999 Stilbenes and fenamates rescue the loss of I(KS) channel function induced by an LQT5 mutation and other IsK mutants.

PMID 10400998 1999 Cellular dysfunction of LQT5-minK mutants: abnormalities of IKs, IKr and trafficking in long QT syndrome.

PMID 11874988 2002 Disease-associated mutations in KCNE potassium channel subunits (MiRPs) reveal promiscuous disruption of multiple currents and conservation of mechanism.

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

rs1057517742 in KCNH2 gene and Long QT Syndrome PMID 15840476 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.

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

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 9694858 1998 HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects.

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

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

PMID 17088455 2006 Genotype-specific onset of arrhythmias in congenital long-QT syndrome: possible therapy implications.

PMID 8700910 1996 Spectrum of HERG K+-channel dysfunction in an inherited cardiac arrhythmia.

PMID 7889573 1995 A molecular basis for cardiac arrhythmia: HERG mutations cause long QT syndrome.

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

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

PMID 10996323 2000 Characterization of S818L mutation in HERG C-terminus in LQT2. Modification of activation-deactivation gating properties.

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

PMID 19926013 2009 Genotype-phenotype aspects of type 2 long QT syndrome.

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

PMID 20850565 2010 Trigger-specific risk factors and response to therapy in long QT syndrome type 2.

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 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 15475579 2005 We studied wild-type and/or type 2 long-QT syndrome-associated mutant (R56Q) HERG current (I(HERG)) in HEK-293 cells, at both 23 and 36 degrees C. Conventional voltage-clamp analysis revealed mutation-induced changes in channel kinetics.

PMID 25809256 2015 Sequence of gating charge movement and pore gating in HERG activation and deactivation pathways.

PMID 10187793 1999 In this study, we used the oocyte expression system and voltage clamp techniques to determine the functional consequences of eight long QT syndrome-associated mutations located in the amino-terminal region of HERG (F29L, N33T, G53R, R56Q, C66G, H70R, A78P, and L86R).

PMID 21536673 2011 Rescue of aberrant gating by a genetically encoded PAS (Per-Arnt-Sim) domain in several long QT syndrome mutant human ether-á-go-go-related gene potassium channels.

PMID 25923442 2015 Eag Domains Regulate LQT Mutant hERG Channels in Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

PMID 25008322 2014 Concerted all-or-none subunit interactions mediate slow deactivation of human ether-à-go-go-related gene K+ channels.

PMID 20876384 2011 Molecular determinants of human ether-à-go-go-related gene 1 (hERG1) K+ channel activation by NS1643.

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

PMID 19038855 2009 Identification of a possible pathogenic link between congenital long QT syndrome and epilepsy.

PMID 9600240 1998 Genomic organization and mutational analysis of HERG, a gene responsible for familial long QT syndrome.

PMID 21308345 2011 Investigation of ion channel gene variants in patients with long QT syndrome.

PMID 18441445 2008 Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.

PMID 10690305 1999 Voltage-shift of the current activation in HERG S4 mutation (R534C) in LQT2.

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

PMID 21244686 2011 We studied the effect of D85N on age-, sex-, and heart rate-adjusted QT-interval duration by linear regression in LQTS patients carrying the Finnish founder mutations KCNQ1 G589D (n = 492), KCNQ1 IVS7-2A>G (n = 66), KCNH2 L552S (n = 73), and KCNH2 R176W (n = 88).

PMID 10841244 2000 A novel missense mutation (L552S) in the HERG channel, present in the homozygous state in the affected siblings and in the heterozygous state in their parents, as well as in 38 additional subjects from six LQTS families, was identified.

PMID 25417810 2014 Large-scale mutational analysis of Kv11.1 reveals molecular insights into type 2 long QT syndrome.

PMID 11222472 2001 Notched T waves on Holter recordings enhance detection of patients with LQt2 (HERG) mutations.

PMID 16265869 2005 [The long QT syndrome from the bedside to molecular genetic laboratory. The history of the first described Hungarian family].

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

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 10226095 1999 Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel.

PMID 9452080 1998 Novel missense mutation (G601S) of HERG in a Japanese long QT syndrome family.

PMID 25348405 2015 UniProt: a hub for protein information.

PMID 12775586 2003 Role of the cytosolic chaperones Hsp70 and Hsp90 in maturation of the cardiac potassium channel HERG.

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

PMID 18808722 2008 Protective effect of KCNH2 single nucleotide polymorphism K897T in LQTS families and identification of novel KCNQ1 and KCNH2 mutations.

PMID 9721698 1998 Novel mechanism of HERG current suppression in LQT2: shift in voltage dependence of HERG inactivation.

PMID 9544837 1998 Multiple different missense mutations in the pore region of HERG in patients with long QT syndrome.

PMID 10560244 1999 Romano-Ward long QT syndrome: identification of a HERG mutation in a Taiwanese kindred.

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

PMID 21295269 2011 An electrifying iPSC disease model: long QT syndrome type 2 and heart cells in a dish.

PMID 21960720 2011 Induced pluripotent stem cell-derived cardiomyocytes and long QT syndrome: is personalized medicine ready for prime time?

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

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

PMID 19070294 2008 Identification of the gene causing long QT syndrome in an Israeli family.

PMID 21367833 2011 Drug evaluation in cardiomyocytes derived from human induced pluripotent stem cells carrying a long QT syndrome type 2 mutation.

PMID 21703926 2011 Pluripotent stem cell models of cardiac disease and their implication for drug discovery and development.

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

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

PMID 19057127 2008 Hydroxyzine, a first generation H(1)-receptor antagonist, inhibits human ether-a-go-go-related gene (HERG) current and causes syncope in a patient with the HERG mutation.

PMID 15090700 2004 Long-term follow-up of notched T waves in female patients with LQT2 (HERG) mutations.

PMID 19996378 2010 Clinical characteristics and genetic background of congenital long-QT syndrome diagnosed in fetal, neonatal, and infantile life: a nationwide questionnaire survey in Japan.

PMID 21240260 2011 Modelling the long QT syndrome with induced pluripotent stem cells.

PMID 11468227 2001 Screening for mutations and polymorphisms in the genes KCNH2 and KCNE2 encoding the cardiac HERG/MiRP1 ion channel: implications for acquired and congenital long Q-T syndrome.

PMID 26496715 2016 Common Genotypes of Long QT Syndrome in China and the Role of ECG Prediction.

PMID 22573844 2012 Structure-guided topographic mapping and mutagenesis to elucidate binding sites for the human ether-a-go-go-related gene 1 potassium channel (KCNH2) activator NS1643.

PMID 26063740 2015 Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.

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 30041777 2018 Wearable cardioverter defibrillators for patients with long QT syndrome.

PMID 28449774 2017 Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

PMID 21216356 2011 Genetic testing of patients with long QT syndrome.

PMID 23022675 2013 RNA interference targeting E637K mutation rescues hERG channel currents and restores its kinetic properties.

PMID 21109023 2011 Functional effects of a missense mutation in HERG associated with type 2 long QT syndrome.

PMID 12062363 2002 Characterization of a novel missense mutation E637K in the pore-S6 loop of HERG in a patient with long QT syndrome.

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

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

PMID 29431731 2018 Physiological genomics identifies genetic modifiers of long QT syndrome type 2 severity.

PMID 12621127 2003 Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome.

PMID 10187793 1999 In this study, we used the oocyte expression system and voltage clamp techniques to determine the functional consequences of eight long QT syndrome-associated mutations located in the amino-terminal region of HERG (F29L, N33T, G53R, R56Q, C66G, H70R, A78P, and L86R).

PMID 25294783 2014 Electrophysiologic substrate in congenital Long QT syndrome: noninvasive mapping with electrocardiographic imaging (ECGI).

PMID 22396785 2012 Changes in channel trafficking and protein stability caused by LQT2 mutations in the PAS domain of the HERG channel.

PMID 20960620 2008 Gene symbol: KCNH2. Disease: Long QT syndrome.

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.

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 12407082 2002 Structural and functional role of the extracellular s5-p linker in the HERG potassium channel.

PMID 23174487 2013 Risk of life-threatening cardiac events among patients with long QT syndrome and multiple mutations.

PMID 28087566 2017 Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.

PMID 14661677 2003 Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital 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 10187793 1999 In this study, we used the oocyte expression system and voltage clamp techniques to determine the functional consequences of eight long QT syndrome-associated mutations located in the amino-terminal region of HERG (F29L, N33T, G53R, R56Q, C66G, H70R, A78P, and L86R).

PMID 22821100 2012 Long QT syndrome with nocturnal cardiac events caused by a KCNH2 missense mutation (G604S).

PMID 18386051 2008 The G604S-hERG mutation alters the biophysical properties and exerts a dominant-negative effect on expression of hERG channels in HEK293 cells.

PMID 10220144 1999 Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.

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 22402334 2012 Sodium-channel blockers might contribute to the prevention of ventricular tachycardia in patients with long QT syndrome type 2: a description of 4 cases.

PMID 17171344 2007 A missense mutation (G604S) in the S5/pore region of HERG causes long QT syndrome in a Chinese family with a high incidence of sudden unexpected death.

PMID 12566525 2003 The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.

PMID 14720170 2004 A 21-year-old woman with long QT syndrome and missense mutation in HERG (T613M), suffered from repeated attacks of pause dependent torsade de pointes, even though she was given beta-blockers and underwent stellate ganglion block twice at the age of eight.

PMID 19731233 2009 Long QT syndrome was identified postnatally on the electrocardiogram, and was confirmed by genetic testing which showed a mutation in the KCNH2 gene (p.T613M).

PMID 11524404 2001 Long-QT syndrome-associated missense mutations in the pore helix of the HERG potassium channel.

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

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

PMID 18808722 2008 Furthermore, in another LQTS family we found that KCNH2 mutation A490T co-segregated with a common SNP K897T in KCNH2.

PMID 11170080 2001 We report a case of a novel HERG mutation (A490T) that caused a bradycardia-associated form of long QT syndrome.

PMID 20975234 2010 Atrioventricular block-induced Torsades de Pointes with clinical and molecular backgrounds similar to congenital long QT syndrome.

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

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

PMID 20851114 2011 Development of a high resolution melting method for the detection of genetic variations in Long QT Syndrome.

PMID 28049825 2017 Tbx20 controls the expression of the KCNH2 gene and of hERG channels.

PMID 22515331 2012 KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome.

PMID 19324319 2009 Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations.

PMID 14714110 2004 These data suggest that R863X failed to form functional HERG channels, contributing to a prolongation of the QT interval and long QT syndrome with a dominant phenotype.

PMID 22617876 2012 Complexities of 5'splice site definition: implications in clinical analyses.

PMID 15364333 2004 An intronic mutation causes long QT syndrome.

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

PMID 21419236 2011 Nonsense-mediated mRNA decay caused by a frameshift mutation in a large kindred of type 2 long QT syndrome.

PMID 20181576 2010 A common single nucleotide polymorphism can exacerbate long-QT type 2 syndrome leading to sudden infant death.

PMID 21063070 2010 Cardiac ion channel gene mutations in Greek long QT syndrome patients.

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

PMID 27803431 2016 M3 Muscarinic Receptor Signaling Stabilizes a Novel Mutant Human Ether-a-Go-Go-Related Gene Channel Protein via Phosphorylation of Heat Shock Factor 1 in Transfected Cells.

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.

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.

rs397508104 in KCNQ1-AS1;KCNQ1 gene and Long QT Syndrome PMID 10024302 1999 Genomic organization of the KCNQ1 K+ channel gene and identification of C-terminal mutations in the long-QT syndrome.

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

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

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

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

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

rs775537394 in KCNQ1OT1;KCNQ1 gene and Long QT Syndrome PMID 17905336 2007 Long QT and Brugada syndrome gene mutations in New Zealand.

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

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

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

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 26318259 2016 Stop-codon and C-terminal nonsense mutations are associated with a lower risk of cardiac events in patients with long QT syndrome type 1.

rs749697698 in SCN5A gene and Long QT Syndrome PMID 10973849 2000 Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2.

PMID 17081365 2006 [Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].

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.

rs116840778 in SSUH2;CAV3 gene and Long QT Syndrome PMID 10746614 2000 Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

PMID 11431690 2001 Mutations in CAV3 cause mechanical hyperirritability of skeletal muscle in rippling muscle disease.

PMID 11756609 2001 A sporadic case of rippling muscle disease caused by a de novo caveolin-3 mutation.

PMID 12939441 2003 Limb-girdle muscular dystrophy in a 71-year-old woman with an R27Q mutation in the CAV3 gene.

PMID 19380584 2009 Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.

PMID 12807393 2003 Caveolin-3 gene mutation in Japanese with rippling muscle disease.

PMID 18930476 2009 Phenotypic variability in a Spanish family with a Caveolin-3 mutation.

PMID 15318349 2004 Phenotypic variability associated with Arg26Gln mutation in caveolin3.

PMID 18583131 2008 Caveolinopathy--new mutations and additional symptoms.

PMID 20472890 2010 Differential effects of myopathy-associated caveolin-3 mutants on growth factor signaling.

PMID 21404291 2011 Rippling is not always electrically silent in rippling muscle disease.

PMID 15580566 2005 Molecular and muscle pathology in a series of caveolinopathy patients.

PMID 14633633 2003 Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases.

PMID 11805270 2002 Mutation in the caveolin-3 gene causes a peculiar form of distal myopathy.

PMID 12666119 2003 Homozygous mutations in caveolin-3 cause a severe form of rippling muscle disease.

PMID 15668980 2005 Autosomal recessive rippling muscle disease with homozygous CAV3 mutations.