×
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
CLINVAR
Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome.
10690282
1999
×
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
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
GeneticVariation
disease
CLINVAR
Unconventional intronic splice site mutation in SCN5A associates with cardiac sodium channelopathy.
15863661
2005
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
CLINVAR
Cryptic 5' splice site activation in SCN5A associated with Brugada syndrome.
15808832
2005
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
GeneticVariation
disease
CLINVAR
A calcium sensor in the sodium channel modulates cardiac excitability.
11807557
2002
×
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
CausalMutation
disease
CLINVAR
×
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
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
Biomarker
disease
CTD_human
Unmasking of brugada syndrome by lithium.
16144991
2005
×
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
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
Biomarker
disease
CTD_human
Criteria for arrhythmogenicity in genetically-modified Langendorff-perfused murine hearts modelling the congenital long QT syndrome type 3 and the Brugada syndrome.
17805561
2008
×
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
Biomarker
disease
CTD_human
Sodium channel blockers identify risk for sudden death in patients with ST-segment elevation and right bundle branch block but structurally normal hearts.
10662748
2000
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
CTD_human
Value of electrocardiographic parameters and ajmaline test in the diagnosis of Brugada syndrome caused by SCN5A mutations.
15520322
2004
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
CTD_human
Genetic and biophysical basis for bupivacaine-induced ST segment elevation and VT/VF. Anesthesia unmasked Brugada syndrome.
16945804
2006
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
CTD_human
Flecainide test in Brugada syndrome: a reproducible but risky tool.
12687841
2003
×
Entrez Id:
6331
Gene Symbol:
SCN5A
SCN5A
0.910
Biomarker
disease
CTD_human
Brugada syndrome in a patient treated with lithium.
17728436
2007
×
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
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
CTD_human
Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel.
18599870
2008