Short QT Syndrome 3
|
|
0.820 |
GeneticVariation
|
BEFREE |
A gain-of-function <i>KCNJ2</i> D172N mutation in KCNJ2-encoded Kir2.1 channels underlies one form of short QT syndrome (SQT3), which is associated with increased susceptibility to arrhythmias and sudden death.
|
29290967 |
2017 |
Short QT Syndrome 3
|
|
0.820 |
GeneticVariation
|
BEFREE |
One form of the short QT syndrome (SQT3) has been linked to the D172N gain-in-function mutation to Kir2.1, which preferentially increases outward current through channels responsible for inward rectifier K(+) current (I(K1)).
|
22308236 |
2012 |
Short QT Syndrome 3
|
|
0.820 |
GeneticVariation
|
UNIPROT |
Although we were unable to test for inducibility of arrhythmia susceptibility due to lack of patients' consent, our computer simulations predict a steeper steady-state restitution curve for the D172N and WT/D172N mutation, compared with WT or to HERG or KvLQT1 mutations, which may predispose SQT3 patients to a greater risk of reentrant arrhythmias.
|
15761194 |
2005 |
Short QT Syndrome 3
|
|
0.820 |
CausalMutation
|
CLINVAR |
|
|
|
Short Qt Syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
SQT3 variant (linked to the inward rectifier potassium current I <sub>K1</sub>) of SQTS, results from a gain-of-function mutation (Kir2.1 D172N) in the KCNJ2-encoded channels, which is associated with ventricular fibrillation (VF).
|
28812984 |
2017 |
Short Qt Syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
The SQTS variant 3 is linked to D172N mutation to the KCNJ2 gene that causes a gain-of-function to the inward rectifier potassium channel current (I <sub>K1</sub>), which shortens the ventricular action potential duration (APD) and effective refractory period (ERP).
|
28592292 |
2017 |
Short Qt Syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
A gain-of-function <i>KCNJ2</i> D172N mutation in KCNJ2-encoded Kir2.1 channels underlies one form of short QT syndrome (SQT3), which is associated with increased susceptibility to arrhythmias and sudden death.
|
29290967 |
2017 |
Short Qt Syndrome
|
|
0.040 |
GeneticVariation
|
BEFREE |
One form of the short QT syndrome (SQT3) has been linked to the D172N gain-in-function mutation to Kir2.1, which preferentially increases outward current through channels responsible for inward rectifier K(+) current (I(K1)).
|
22308236 |
2012 |
Cardiac Arrhythmia
|
|
0.030 |
GeneticVariation
|
BEFREE |
A gain-of-function <i>KCNJ2</i> D172N mutation in KCNJ2-encoded Kir2.1 channels underlies one form of short QT syndrome (SQT3), which is associated with increased susceptibility to arrhythmias and sudden death.
|
29290967 |
2017 |
Cardiac Arrhythmia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Increased I(K1) due to the Kir2.1 D172N mutation increases arrhythmia risk due to increased tissue vulnerability, shortened ERP, and altered excitability, which in combination facilitate initiation and maintenance of re-entrant circuits.
|
22308236 |
2012 |
Cardiac Arrhythmia
|
|
0.030 |
GeneticVariation
|
BEFREE |
Although we were unable to test for inducibility of arrhythmia susceptibility due to lack of patients' consent, our computer simulations predict a steeper steady-state restitution curve for the D172N and WT/D172N mutation, compared with WT or to HERG or KvLQT1 mutations, which may predispose SQT3 patients to a greater risk of reentrant arrhythmias.
|
15761194 |
2005 |
Ventricular Fibrillation
|
|
0.010 |
GeneticVariation
|
BEFREE |
SQT3 variant (linked to the inward rectifier potassium current I <sub>K1</sub>) of SQTS, results from a gain-of-function mutation (Kir2.1 D172N) in the KCNJ2-encoded channels, which is associated with ventricular fibrillation (VF).
|
28812984 |
2017 |
Ventricular arrhythmia
|
|
0.010 |
GeneticVariation
|
BEFREE |
This study investigated mechanisms by which the Kir2.1 D172N mutation facilitates and perpetuates ventricular arrhythmias.
|
22308236 |
2012 |