|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.
|
24167619 |
2013 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.
|
23994779 |
2013 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
BEFREE |
Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome.
|
11786529 |
2002 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
|
11823453 |
2002 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
|
9521325 |
1998 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Genetic basis and molecular mechanism for idiopathic ventricular fibrillation.
|
9521325 |
1998 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Genetic testing in the long QT syndrome: development and validation of an efficient approach to genotyping in clinical practice.
|
16414944 |
2005 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.
|
12106943 |
2002 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
High risk for bradyarrhythmic complications in patients with Brugada syndrome caused by SCN5A gene mutations.
|
16325048 |
2005 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.
|
10690282 |
1999 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Identification of a new SCN5A mutation, D1840G, associated with the long QT syndrome. Mutations in brief no. 153. Online.
|
10627139 |
1998 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes.
|
11410597 |
2001 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.
|
10532948 |
1999 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.
|
10532948 |
1999 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.
|
23420830 |
2013 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular mechanism for an inherited cardiac arrhythmia.
|
7651517 |
1995 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes.
|
15579534 |
2004 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel arrhythmogenic mechanism revealed by a long-QT syndrome mutation in the cardiac Na(+) channel.
|
11304498 |
2001 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel Brugada syndrome-causing mutation in ion-conducting pore of cardiac Na+ channel does not affect ion selectivity properties.
|
16266370 |
2005 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits.
|
9686753 |
1998 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
BEFREE |
SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells.
|
10664447 |
2000 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.
|
26392562 |
2015 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.
|
26776555 |
2016 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.
|
10508990 |
1999 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test.
|
19716085 |
2009 |