|
Atrial Fibrillation, Familial, 3
|
|
0.800 |
GeneticVariation
|
UNIPROT |
KCNQ1 gain-of-function mutation in familial atrial fibrillation.
|
12522251 |
2003 |
|
Atrial Fibrillation, Familial, 3
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Atrial Fibrillation
|
|
0.050 |
GeneticVariation
|
BEFREE |
The KCNQ1 S140G mutation, which is involved in I<sub>Ks</sub> current, affects atrial fibrillation.
|
30108508 |
2018 |
|
Atrial Fibrillation
|
|
0.050 |
GeneticVariation
|
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
|
|
0.050 |
GeneticVariation
|
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
|
|
0.050 |
GeneticVariation
|
BEFREE |
Two gain of function mutations in KCNQ1 subunits (S140G and V141M) have been associated with atrial fibrillation (AF).
|
18599533 |
2008 |
|
Atrial Fibrillation
|
|
0.050 |
GeneticVariation
|
BEFREE |
Thus, the S140G mutation is likely to initiate and maintain AF by reducing action potential duration and effective refractory period in atrial myocytes.
|
12522251 |
2003 |
|
Cardiac Arrhythmia
|
|
0.030 |
GeneticVariation
|
BEFREE |
We have investigated mechanisms by which the S1 domain S140G KCNQ1 mutation influences atrial arrhythmia risk and, additionally, whether it can affect ventricular electrophysiology.
|
24411289 |
2014 |
|
Cardiac Arrhythmia
|
|
0.030 |
GeneticVariation
|
BEFREE |
In conclusion, increased I(Ks) due to the KCNQ1 S140G mutation increases atrial susceptibility to arrhythmia due to increased tissue vulnerability, shortened ERP and altered atrial conduction velocity, which, in combination, facilitate initiation and maintenance of re-entrant excitation waves.
|
22508963 |
2012 |
|
Cardiac Arrhythmia
|
|
0.030 |
GeneticVariation
|
BEFREE |
The purpose of this study was to further explore the association of the KCNQ1 S140G mutation with cardiac arrhythmias.
|
17467630 |
2007 |
|
Long QT Syndrome
|
|
0.020 |
GeneticVariation
|
BEFREE |
Similar to KCNQ1 S140G, the mutation had a gain-of-function effect on the KCNQ1-KCNE2 channel; unlike long QT syndrome-associated KCNE2 mutations, it did not alter HERG-KCNE2 current.
|
15368194 |
2004 |
|
Long QT Syndrome
|
|
0.020 |
GeneticVariation
|
BEFREE |
Functional analysis of the S140G mutant revealed a gain-of-function effect on the KCNQ1/KCNE1 and the KCNQ1/KCNE2 currents, which contrasts with the dominant negative or loss-of-function effects of the KCNQ1 mutations previously identified in patients with long QT syndrome.
|
12522251 |
2003 |
|
Multiple Chronic Conditions
|
|
0.010 |
GeneticVariation
|
BEFREE |
Therefore, we assessed the influence of the KCNQ1 S140G mutation on ventricular electrophysiological stability and mechanical pumping performance using a multi-scale model of cardiac electromechanics.
|
30108508 |
2018 |
|
Ventricular arrhythmia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In addition, the KCNQ1 S140G mutation can induce ventricular arrhythmia and lessen ventricular contractility under re-entrant conditions.
|
30108508 |
2018 |
|
Cardiac Arrest
|
|
0.010 |
GeneticVariation
|
BEFREE |
This suggests that the KCNQ1 S140G mutation increases the risk of death by sudden cardiac arrest.
|
30108508 |
2018 |
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
We recently reported that an S140G mutation in human KCNQ1, an alpha subunit of potassium channels, was involved in the pathogenesis of familial atrial fibrillation (AF), but it is not clear whether the mutation is associated with other cardiac arrhythmias.
|
17467630 |
2007 |
|
Atrioventricular Block
|
|
0.010 |
GeneticVariation
|
BEFREE |
Human KCNQ1 S140G mutation is associated with atrioventricular blocks.
|
17467630 |
2007 |
|
Complete atrioventricular block
|
|
0.010 |
GeneticVariation
|
BEFREE |
The results suggest that human KCNQ1 S140G is also likely to be a causative mutation responsible for AVBs.
|
17467630 |
2007 |