|
Short QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.
|
15828882 |
2005 |
|
Short QT Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Sudden death associated with short-QT syndrome linked to mutations in HERG.
|
14676148 |
2004 |
|
Short QT Syndrome 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Short QT Syndrome 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
|
Short Qt Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
Patient-specific hiPSCs were generated from a symptomatic SQTS patient carrying the N588K mutation in the KCNH2 gene, differentiated into cardiomyocytes, and compared with healthy and isogenic (established by CRISPR/Cas9-based mutation correction) control hiPSC-derived cardiomyocytes (hiPSC-CMs).
|
31072576 |
2019 |
|
Short Qt Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
This study recruited 1 patient with short QT syndrome type 1 carrying a mutation (N588K) in KCNH2 as well as 2 healthy control subjects.
|
29574456 |
2018 |
|
Short Qt Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
A gain of function mutation N588K in the KCNH2 gene that encodes HERG channels has been shown to underlie the SQT1 form of short QT syndrome (SQTS).
|
21130771 |
2011 |
|
Short Qt Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
Here, for the first time, electrophysiological effects were studied of a gain-of-function hERG mutation (N588K; responsible for the 'SQT1' variant of the short QT syndrome) on current (I(hERG1a/1b)) carried by co-expressed hERG1a/1b channels.
|
19501051 |
2009 |
|
Short Qt Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
To evaluate the electrophysiological consequences of the short-QT syndrome at the level of the cardiac AP, the Markov model of wild-type (WT) KCNH2 channel was modified to obtain a model of the KCNH2 channel with the N588K mutation associated with the short-QT syndrome.
|
16565572 |
2006 |
|
Short Qt Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
Hence, unlike the known mutations in the two other SQTS forms (N588K in HERG and V307L in KvLQT1), simulations using the D172N and WT/D172N mutations fully accounted for the ECG phenotype of tall and asymmetrically shaped T waves.
|
15761194 |
2005 |
|
Short Qt Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
Modulation of I(Kr) inactivation by mutation N588K in KCNH2: a link to arrhythmogenesis in short QT syndrome.
|
16039272 |
2005 |
|
Short Qt Syndrome
|
|
0.080 |
GeneticVariation
|
BEFREE |
Our study confirms that N588K is a hotspot for familial form of the short QT syndrome.
|
15828882 |
2005 |
|
Atrial Fibrillation
|
|
0.010 |
GeneticVariation
|
BEFREE |
Human ether-à-go-go-related gene (hERG) missense mutations N588K and L532P are both associated with atrial fibrillation (AF).
|
24569898 |
2014 |
|
Cardiac Arrhythmia
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this study we sought to determine the potential role of N588K in arrhythmias.
|
16039272 |
2005 |
|
Familial (FPAH)
|
|
0.010 |
GeneticVariation
|
BEFREE |
Our study confirms that N588K is a hotspot for familial form of the short QT syndrome.
|
15828882 |
2005 |