Andersen Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.
|
24861851 |
2015 |
Andersen Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.
|
18452873 |
2008 |
Andersen Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Corticosteroid-exacerbated symptoms in an Andersen's syndrome kindred.
|
17324964 |
2007 |
Andersen Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
In this study, we characterized the KCNJ2 channels with an ATS mutation (T75M) which is associated with cardiac phenotypes of bi-directional ventricular tachycardia, syncope, and QT(c) prolongation.
|
17582433 |
2007 |
Andersen Syndrome
|
|
0.810 |
GeneticVariation
|
BEFREE |
T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.
|
17582433 |
2007 |
Andersen Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.
|
17341397 |
2007 |
Andersen Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Functional and clinical characterization of a mutation in KCNJ2 associated with Andersen-Tawil syndrome.
|
16571646 |
2006 |
Andersen Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.
|
15911703 |
2005 |
Andersen Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.
|
16217063 |
2005 |
Andersen Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).
|
12163457 |
2002 |
Andersen Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
KCNJ2 mutation results in Andersen syndrome with sex-specific cardiac and skeletal muscle phenotypes.
|
12148092 |
2002 |
Andersen Syndrome
|
|
0.810 |
GeneticVariation
|
UNIPROT |
Mutations in Kir2.1 cause the developmental and episodic electrical phenotypes of Andersen's syndrome.
|
11371347 |
2001 |
Andersen Syndrome
|
|
0.810 |
CausalMutation
|
CLINVAR |
|
|
|
Short QT Syndrome 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
Andersen-Tawil syndrome: report of 3 novel mutations and high risk of symptomatic cardiac involvement.
|
24861851 |
2015 |
Short QT Syndrome 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
Prevalence of early-onset atrial fibrillation in congenital long QT syndrome.
|
18452873 |
2008 |
Short QT Syndrome 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
KCNJ2 mutations in arrhythmia patients referred for LQT testing: a mutation T305A with novel effect on rectification properties.
|
17341397 |
2007 |
Short QT Syndrome 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
T75M-KCNJ2 mutation causing Andersen-Tawil syndrome enhances inward rectification by changing Mg2+ sensitivity.
|
17582433 |
2007 |
Short QT Syndrome 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype.
|
15911703 |
2005 |
Short QT Syndrome 3
|
|
0.700 |
CausalMutation
|
CLINVAR |
Andersen-Tawil syndrome: new potassium channel mutations and possible phenotypic variation.
|
16217063 |
2005 |
Tachycardia, Ventricular
|
|
0.020 |
GeneticVariation
|
BEFREE |
In this study, we characterized the KCNJ2 channels with an ATS mutation (T75M) which is associated with cardiac phenotypes of bi-directional ventricular tachycardia, syncope, and QT(c) prolongation.
|
17582433 |
2007 |
Tachycardia, Ventricular
|
|
0.020 |
GeneticVariation
|
BEFREE |
In three of five T75R-Tg mice with ventricular tachycardia, their ECG disclosed bidirectional tachycardia as in our proband.
|
16571646 |
2006 |
Syncope
|
|
0.010 |
GeneticVariation
|
BEFREE |
In this study, we characterized the KCNJ2 channels with an ATS mutation (T75M) which is associated with cardiac phenotypes of bi-directional ventricular tachycardia, syncope, and QT(c) prolongation.
|
17582433 |
2007 |
Bidirectional tachycardia
|
|
0.010 |
GeneticVariation
|
BEFREE |
For in vivo studies, the T75R-Tg mice had bidirectional ventricular tachycardia after induction and longer QT intervals.
|
16571646 |
2006 |