|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
KCNQ1 mutations can result in channel defects and lead to several diseases including atrial fibrillation and long QT syndrome.
|
31825788 |
2020 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Paradoxically, gain-of-function mutations in KCNQ1 have been reported to cause borderline QT prolongation, atrial fibrillation (AF), sinus bradycardia, and sudden death, however, the mechanisms are not well understood.
|
30967788 |
2019 |
|
Atrial Fibrillation
|
0.200 |
Biomarker
|
disease |
BEFREE |
In patients followed from birth to 60 years of age, patients with LQT3 had an increased risk of AF compared with genotype-negative family members (hazard ratio=6.62; 95% CI, 2.04-21.49; <i>P</i><0.001), while neither LQT1 nor LQT2 demonstrated increased AF risk.
|
31610692 |
2019 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The common association with atrial fibrillation suggests a unique mechanism of disease for this LQT gene.
|
28407228 |
2018 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Hasegawa et al reported that G229D mutation in KCNQ1 underlies atrial fibrillation due to significant shortening of action potential duration (APD) in atrial cells.
|
29488358 |
2018 |
|
Atrial Fibrillation
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
LncRNA KCNQ1 overlapping transcript 1 (KCNQ1OT1) was found to be significantly upregulated in AF model and Ang-II-induced mice heart.
|
30241939 |
2018 |
|
Atrial Fibrillation
|
0.200 |
Biomarker
|
disease |
BEFREE |
This study provides mechanistic insights into different AF/bradycardia phenotypes in SQT2 and the efficacy of quinidine pharmacotherapy.
|
30337886 |
2018 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The KCNQ1 S140G mutation, which is involved in I<sub>Ks</sub> current, affects atrial fibrillation.
|
30108508 |
2018 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Two KCNQ1 gain-of-function mutations that cause a genetic form of atrial fibrillation, S140G and V141M, drastically slow I<sub>Ks</sub> deactivation.
|
28383569 |
2017 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Computational simulations of the effects of the G229D KCNQ1 mutation on human atrial fibrillation.
|
26922794 |
2016 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We bidirectionally sequenced the entire coding sequence of KCNQ1 in 209 unrelated patients with early-onset lone AF (<40 years) and investigated the identified mutations functionally in a heterologous expression system.
|
25786344 |
2015 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study aimed to assess the associations between polymorphisms on KCNE1, KCNQ1, and KCNH2 with the risk of AF in a Chinese population.
|
26066992 |
2015 |
|
Atrial Fibrillation
|
0.200 |
Biomarker
|
disease |
BEFREE |
SQT2 exhibited a higher prevalence of bradyarrhythmia (SQT2: 6/8, 75%; non-SQT2: 5/57, 9%; p < 0.001) and atrial fibrillation (SQT2: 5/8, 63%; non-SQT2: 12/57, 21%; p = 0.012).
|
25974115 |
2015 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In 30 consecutive juvenile-onset AF patients (onset age <50 years), we screened AF-related genes (KCNQ1, KCNH2, KCNE1-3, KCNE5, KCNJ2, SCN5A).
|
24096004 |
2014 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In silico investigation of a KCNQ1 mutation associated with familial atrial fibrillation.
|
24411289 |
2014 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Sanger sequencing in a family with hereditary persistent AF identified a novel KCNQ1 variant (V241F) in a highly conserved region of S4 domain.
|
23989646 |
2014 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Candidate gene sequencing in 5 unrelated families with familial AF identified the KCNQ1 missense mutation p.Arg231His (R231H).
|
23350853 |
2013 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Functional analysis has shown that the missense gain-in-function KCNQ1 S140G mutation associated with familial atrial fibrillation produces an increase of the slow delayed rectifier potassium current (I(Ks)).
|
22508963 |
2012 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Two mutations (S140G and V141M) that cause familial atrial fibrillation (AF) are located on adjacent residues in the first membrane-spanning domain of KCNQ1, S1.
|
22250012 |
2012 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
KCNQ1 and KCNE mutations are also associated with atrial fibrillation.
|
20688187 |
2010 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Among 231 participants in the Vanderbilt AF Registry, we found a mutation in KCNQ1 (encoding the alpha-subunit of slow delayed rectifier potassium current [I(Ks)]) and separately a mutation in natriuretic peptide precursor A (NPPA) gene (encoding atrial natriuretic peptide, ANP), both segregating with early onset lone AF in different kindreds.
|
19646991 |
2010 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We identified a family with lone AF due to a mutation in the highly conserved S3 domain of KCNQ1, a region of the channel not previously implicated in the pathogenesis of AF.
|
19632626 |
2009 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Among the gene defects previously associated with AF is a gain of function of the slowly activating delayed rectifier potassium current IKs, secondary to mutations in KCNQ1.
|
18313602 |
2008 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Two gain of function mutations in KCNQ1 subunits (S140G and V141M) have been associated with atrial fibrillation (AF).
|
18599533 |
2008 |
|
Atrial Fibrillation
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Five (2.4%) of 211 patients with LQT1-susceptibility mutations had documented AF, compared to 0 of 174 patients with LQT2, 1 of 59 patients with LQT3, 1 of 1 patient with Andersen-Tawil syndrome, and 1 of 34 patients with multiple mutations.
|
18452873 |
2008 |