Brugada Syndrome 1
|
|
0.800 |
CausalMutation
|
CLINVAR |
|
|
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Molecular mechanism for an inherited cardiac arrhythmia.
|
7651517 |
1995 |
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Cardiac sodium channel mutations in patients with long QT syndrome, an inherited cardiac arrhythmia.
|
8541846 |
1995 |
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 |
A de novo missense mutation of human cardiac Na+ channel exhibiting novel molecular mechanisms of long QT syndrome.
|
9506831 |
1998 |
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 |
Novel LQT-3 mutation affects Na+ channel activity through interactions between alpha- and beta1-subunits.
|
9686753 |
1998 |
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 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.
|
10690282 |
1999 |
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.
|
10532948 |
1999 |
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Congenital long-QT syndrome caused by a novel mutation in a conserved acidic domain of the cardiac Na+ channel.
|
10377081 |
1999 |
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 |
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.
|
10618304 |
2000 |
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 |
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
BEFREE |
The biophysical properties of the SCN5A mutation T1620M associated with Brugada syndrome were examined for defects in intermediate inactivation (I:(M)), a gating process in Na(+) channels with kinetic features intermediate between fast and slow inactivation.
|
11029409 |
2000 |
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
The biophysical properties of the SCN5A mutation T1620M associated with Brugada syndrome were examined for defects in intermediate inactivation (I:(M)), a gating process in Na(+) channels with kinetic features intermediate between fast and slow inactivation.
|
11029409 |
2000 |
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A molecular link between the sudden infant death syndrome and the long-QT syndrome.
|
10911008 |
2000 |
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation.
|
11123251 |
2001 |
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A sodium-channel mutation causes isolated cardiac conduction disease.
|
11234013 |
2001 |
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 |
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 |
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 |
Genotype-phenotype relationship in Brugada syndrome: electrocardiographic features differentiate SCN5A-related patients from non-SCN5A-related patients.
|
12106943 |
2002 |
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
BEFREE |
Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome.
|
11786529 |
2002 |