|
Epilepsy
|
|
0.010 |
GeneticVariation
|
BEFREE |
R863X alteration in HERG channel may be involved in both prolonged QTc interval and epilepsy.
|
22515331 |
2012 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
A novel mutation in the KCNH2 gene associated with short QT syndrome.
|
21130771 |
2011 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Aminoglycoside antibiotics restore functional expression of truncated HERG channels produced by nonsense mutations.
|
19324319 |
2009 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Gain-of-function KCNH2 mutations in patients with Brugada syndrome.
|
24400717 |
2014 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
|
16414944 |
2005 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype-dependent differences in age of manifestation and arrhythmia complications in short QT syndrome.
|
25974115 |
2015 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias.
|
11136691 |
2001 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
KCNH2 gene mutation: a potential link between epilepsy and long QT-2 syndrome.
|
22515331 |
2012 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Long QT Syndrome.
|
18835466 |
2008 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Molecular pathogenesis of long QT syndrome type 2.
|
27761161 |
2016 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Novel KCNQ1 and HERG missense mutations in Dutch long-QT families.
|
10220144 |
1999 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of long-QT syndrome gene variants in sudden infant death syndrome.
|
17210839 |
2007 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Short QT syndrome and atrial fibrillation caused by mutation in KCNH2.
|
15828882 |
2005 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Short QT Syndrome: a familial cause of sudden death.
|
12925462 |
2003 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Short QT syndrome: clinical findings and diagnostic-therapeutic implications.
|
16926178 |
2006 |
|
Overgrowth
|
|
0.700 |
CausalMutation
|
CLINVAR |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
The use of genotype-phenotype correlations in mutation analysis for the long QT syndrome.
|
12566525 |
2003 |
|
Long QT Syndrome
|
|
0.710 |
GeneticVariation
|
BEFREE |
These data suggest that R863X failed to form functional HERG channels, contributing to a prolongation of the QT interval and long QT syndrome with a dominant phenotype.
|
14714110 |
2004 |
|
Long QT Syndrome
|
|
0.710 |
CausalMutation
|
CLINVAR |
These data suggest that R863X failed to form functional HERG channels, contributing to a prolongation of the QT interval and long QT syndrome with a dominant phenotype.
|
14714110 |
2004 |
|
Cardiac Arrhythmia
|
|
0.010 |
GeneticVariation
|
BEFREE |
This fact raises the possibility that R863X alteration in KCNH2-encoded potassium channel may confer susceptibility for epilepsy and cardiac LQT-2 arrhythmia.
|
22515331 |
2012 |