|
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 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.
|
26279430 |
2015 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
UniProt: a hub for protein information.
|
25348405 |
2015 |
|
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 |
Executive summary: HRS/EHRA/APHRS expert consensus statement on the diagnosis and management of patients with inherited primary arrhythmia syndromes.
|
23994779 |
2013 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.
|
24167619 |
2013 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.
|
23785128 |
2013 |
|
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 |
|
Brugada Syndrome (disorder)
|
|
0.740 |
GeneticVariation
|
CLINVAR |
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
|
20129283 |
2010 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.
|
19272188 |
2009 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
|
19251209 |
2009 |
|
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 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.
|
18252757 |
2008 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
|
18451998 |
2008 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Subepicardial phase 0 block and discontinuous transmural conduction underlie right precordial ST-segment elevation by a SCN5A loss-of-function mutation.
|
18456723 |
2008 |
|
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 |
|
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
|
|
0.010 |
GeneticVariation
|
BEFREE |
Combination of cardiac conduction disease and long QT syndrome caused by mutation T1620K in the cardiac sodium channel.
|
18065446 |
2008 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
[Gene (SCN5A) mutation analysis of a Chinese family with Brugada syndrome].
|
18341814 |
2007 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A sodium channel pore mutation causing Brugada syndrome.
|
17198989 |
2007 |
|
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 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.
|
16616735 |
2006 |
|
Brugada Syndrome 1
|
|
0.800 |
GeneticVariation
|
UNIPROT |
[Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].
|
17081365 |
2006 |