|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
BEFREE |
Absence of a trafficking defect in R1232W/T1620M, a double SCN5A mutant responsible for Brugada syndrome.
|
18503232 |
2008 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations.
|
15520322 |
2004 |
|
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 (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease.
|
11827685 |
2002 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation.
|
11123251 |
2001 |
|
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 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.
|
10532948 |
1999 |
|
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 |
SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.
|
26392562 |
2015 |
|
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 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
|
19251209 |
2009 |
|
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 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
|
18451998 |
2008 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A mutation in the sodium channel is responsible for the association of long QT syndrome and familial atrial fibrillation.
|
18929331 |
2008 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel and lethal de novo LQT-3 mutation in a newborn with distinct molecular pharmacology and therapeutic response.
|
18060054 |
2007 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Spectrum of pathogenic mutations and associated polymorphisms in a cohort of 44 unrelated patients with long QT syndrome.
|
16922724 |
2006 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing.
|
15840476 |
2005 |
|
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 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A common human SCN5A polymorphism modifies expression of an arrhythmia causing mutation.
|
12454206 |
2003 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation.
|
12569159 |
2003 |
|
Hereditary bundle branch system defect
|
|
0.700 |
GeneticVariation
|
UNIPROT |
Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system.
|
12574143 |
2003 |
|
LONG QT SYNDROME 3
|
|
0.700 |
GeneticVariation
|
UNIPROT |
A novel SCN5A mutation associated with long QT-3: altered inactivation kinetics and channel dysfunction.
|
12209021 |
2002 |