×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
CTD_human
Brugada syndrome trafficking-defective Nav1.5 channels can trap cardiac Kir2.1/2.2 channels.
30232268
2018
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
GENOMICS_ENGLAND
Reappraisal of Reported Genes for Sudden Arrhythmic Death.
29959160
2018
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
BEFREE
SCN5a mutations may express gain-of-function (Long QT Syndrome-3 ), loss-of-function (Brugada Syndrome 1 ) or both (mixed syndromes), depending on the mutation and environmental triggers.
28734073
2017
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
UNIPROT
SCN5A(K817E), a novel Brugada syndrome-associated mutation that alters the activation gating of NaV1.5 channel.
26776555
2016
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
UNIPROT
De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.
26279430
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
CLINVAR
Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture.
26111534
2015
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
CTD_human
Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.
23872634
2013
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
UNIPROT
p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.
23085483
2013
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
UNIPROT
Electrophysiological characteristics of a SCN5A voltage sensors mutation R1629Q associated with Brugada syndrome.
24167619
2013
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
UNIPROT
MOG1 rescues defective trafficking of Na(v)1.5 mutations in Brugada syndrome and sick sinus syndrome.
23420830
2013
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
GENOMICS_ENGLAND
Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation.
22490985
2012
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
CLINVAR
Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome.
21273195
2011
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
MGD
Spatial and temporal heterogeneities are localized to the right ventricular outflow tract in a heterozygotic Scn5a mouse model.
21097662
2011
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
CTD_human
Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model.
20174578
2010
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
CTD_human
Brugada syndrome ECG provoked by the selective serotonin reuptake inhibitor fluvoxamine.
19875396
2010
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
CLINVAR
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
20129283
2010
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
UNIPROT
An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
20129283
2010
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
CTD_human
Active cascade screening in primary inherited arrhythmia syndromes: does it lead to prophylactic treatment?
20513597
2010
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
UNIPROT
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
19251209
2009
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
UNIPROT
Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations.
19272188
2009
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
CTD_human
Is flecainide dangerous in long QT-3 patients?
19140927
2009
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
CLINVAR
Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies.
19251209
2009
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
UNIPROT
Analyses of a novel SCN5A mutation (C1850S): conduction vs. repolarization disorder hypotheses in the Brugada syndrome.
18252757
2008
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
CTD_human
Concomitant-acquired Long QT and Brugada syndromes associated with indapamide-induced hypokalemia and hyponatremia.
18507554
2008
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
UNIPROT
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
18451998
2008