×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Mutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents.
26733869 2015
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants.
19841300 2009
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Sudden cardiac death with autopsy findings of uncertain significance: potential for erroneous interpretation.
23671135 2013
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Sodium channelopathy underlying familial sick sinus syndrome with early onset and predominantly male characteristics.
24762805 2014
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Facilitatory and inhibitory effects of SCN5A mutations on atrial fibrillation in Brugada syndrome.
21273195 2011
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome.
23840796 2013
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Sick sinus syndrome, progressive cardiac conduction disease, atrial flutter and ventricular tachycardia caused by a novel SCN5A mutation.
20395683 2010
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Genetic analysis in a family affected by sick sinus syndrome may reduce the sudden death risk in a young aspiring competitive athlete.
24295898 2014
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
The E1784K mutation in SCN5A is associated with mixed clinical phenotype of type 3 long QT syndrome.
18451998 2008
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Comparison of long-term follow-up of electrocardiographic features in Brugada syndrome between the SCN5A-positive probands and the SCN5A-negative probands.
17697823 2007
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
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
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
[Novel SCN5A gene mutations associated with Brugada syndrome: V95I, A1649V and delF1617].
17081365 2006
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.
10618304 2000
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
The Brugada ECG and schizophrenia.
24951569 2014
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
A connexin40 mutation associated with a malignant variant of progressive familial heart block type I.
22247482 2012
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
The implications of genetic mutations in the sodium channel gene (SCN5A).
14753626 2003
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Cardiac evaluation of pediatric relatives in sudden arrhythmic death syndrome: a 2-center experience.
25194972 2014
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
We screened patients with SUNDS for mutations in SCN5A , the gene known to cause Brugada syndrome , as well as genes encoding ion channels associated with the long-QT syndrome.
11823453 2002
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
R222Q SCN5A mutation is associated with reversible ventricular ectopy and dilated cardiomyopathy.
22999724 2012
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).
14523039 2003
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Is sudden unexplained nocturnal death syndrome in Southern China a cardiac sodium channel dysfunction disorder?
24529773 2014
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Gene sequencing in neonates and infants with the long QT syndrome.
16379539 2005
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Absence of pathognomonic or inflammatory patterns in cardiac biopsies from patients with Brugada syndrome.
19808440 2009
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
CausalMutation
CLINVAR
Natural and Undetermined Sudden Death: Value of Post-Mortem Genetic Investigation.
27930701 2016
×
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
Brugada Syndrome (disorder)
1.000
GeneticVariation
CLINVAR
Novel brugada SCN5A mutation leading to ST segment elevation in the inferior or the right precordial leads.
12693506 2003