KCNQ1
| is a | gene |
| is | mentioned by |
| Full name | potassium voltage-gated channel, KQT-like subfamily, member 1 |
| EntrezGene | 3784 |
| PheGenI | 3784 |
| VariationViewer | 3784 |
| ClinVar | KCNQ1 |
| GeneCards | KCNQ1 |
| dbSNP | 3784 |
| Diseases | KCNQ1 |
| SADR | 3784 |
| HugeNav | 3784 |
| wikipedia | KCNQ1 |
| KCNQ1 | |
| gopubmed | KCNQ1 |
| EVS | KCNQ1 |
| HEFalMp | KCNQ1 |
| MyGene2 | KCNQ1 |
| 23andMe | KCNQ1 |
| UniProt | P51787 |
| Ensembl | ENSG00000053918 |
| OMIM | 607542 |
| # SNPs | 449 |
Associated with long QT syndrome LQTS and deafness;
Publications[edit]
[PMID 31520628] Mothers with long QT syndrome are at increased risk for fetal death: findings from a multicenter international study.
[PMID 29740400
] The Role of KCNQ1 Mutations and Maternal Beta Blocker Use During Pregnancy in the Growth of Children With Long QT Syndrome.
[PMID 29622001] Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.
[PMID 29355047] Type 1 long QT syndrome and psychological stress in a laboratory setting.
[PMID 27998949] Response by Crotti et al to Letter Regarding Article, "Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?"
[PMID 27613431] Mutation analysis for the detection of long QT-syndrome (LQTS) associated SNPs.
[PMID 27531917] Genetic Modifiers for the Long-QT Syndrome: How Important Is the Role of Variants in the 3' Untranslated Region of KCNQ1?
[PMID 27460199] The role of known variants of KCNQ1, KCNH2, KCNE1, SCN5A, and NOS1AP in water-related deaths.
[PMID 26063740] Follow-up of 316 molecularly defined pediatric long-QT syndrome patients: clinical course, treatments, and side effects.
[PMID 25737393] Analysis for Genetic Modifiers of Disease Severity in Patients With Long-QT Syndrome Type 2.
[PMID 24270299] Work stress and the long QT syndrome: high job strain and effort-reward imbalance at work associated with arrhythmic risk in the long QT syndrome.
[PMID 24096169] Single nucleotide polymorphisms in arrhythmia genes modify the risk of cardiac events and sudden death in long QT syndrome.
[PMID 23856471] Identification of a KCNQ1 polymorphism acting as a protective modifier against arrhythmic risk in long-QT syndrome.
[PMID 23459443] Drug-gene interactions and the search for missing heritability: a cross-sectional pharmacogenomics study of the QT interval.
[PMID 21496168] Epinephrine bolus test in detecting long QT syndrome mutation carriers with indeterminable electrocardiographic phenotype.
[PMID 21244686] KCNE1 D85N polymorphism--a sex-specific modifier in type 1 long QT syndrome?
[PMID 21138517] Comparison of QT peak and QT end interval responses to autonomic adaptation in asymptomatic LQT1 mutation carriers.
[PMID 20659946] A history of stressful life events, prolonged mental stress and arrhythmic events in inherited long QT syndrome.
[PMID 20566482] Abnormal repolarization dynamics revealed in exercise test in long QT syndrome mutation carriers with normal resting QT interval.
[PMID 20186784] Mutations at KCNQ1 and an unknown locus cause long QT syndrome in a large Australian family: implications for genetic testing.
[PMID 19808498] Biophysical properties of 9 KCNQ1 mutations associated with long-QT syndrome.
(9 KCNQ1 missense mutationsː A46T, T265I, F269S, A302V, G316E, F339S, R360G, H455Y, and S546)
[PMID 19160088] High prevalence of four long QT syndrome founder mutations in the Finnish population.
[PMID 18365896] Electrocardiographic interventricular dispersion of repolarization during autonomic adaptation in LQT1 subtype of long QT syndrome.
[PMID 17984373] The common long-QT syndrome mutation KCNQ1/A341V causes unusually severe clinical manifestations in patients with different ethnic backgrounds: toward a mutation-specific risk stratification.
[PMID 17467628] Further evidence of inherited long QT syndrome gene mutations in antiarrhythmic drug-associated torsades de pointes.
[PMID 17192539] Female predominance and transmission distortion in the long-QT syndrome.
[PMID 17023080] Beta1-adrenergic receptor polymorphisms, QTc interval and occurrence of symptoms in type 1 of long QT syndrome.
[PMID 16882680] Effect of physical training on ventricular repolarization in type 1 long QT syndrome: a pilot study in asymptomatic carriers of the G589D KCNQ1 mutation.
[PMID 16754261] Molecular characterization of two founder mutations causing long QT syndrome and identification of compound heterozygous patients.
[PMID 16754261] 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.
