The most common genotype found among BrS patients is caused by mutations in the SCN5A gene, which lead to a loss of function of the cardiac sodium (Na( )) channel (Nav1.5) [ncbi.nlm.nih.gov]

[…] in SCN5A gene. [ncbi.nlm.nih.gov]

Mutations in the SCN5A gene, which encodes the cardiac sodium channel, have been associated with cardiac arrhythmia syndromes and conduction disease. [ncbi.nlm.nih.gov]

Cases in which a mutation in the SCN5A gene cannot be demonstrated may be due to mutations of these genes, due to other unidentified genes, or located in regions of the coding [emedicine.medscape.com]

Mutations in the KCNQ1, KCNH2, and SCN5A genes are the most common causes of Romano-Ward syndrome. [ghr.nlm.nih.gov]

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000;102:1178–85. 9. Priori SG, Napolitano C, Schwartz PJ. [revistas.uis.edu.co]

A new, previously unknown, mutation of the SCN5A gene has been found in the family. [ncbi.nlm.nih.gov]

[…] of the SCN5A gene for the sodium channel, a gain-of-function mutation causes persistent inward sodium current in the plateau phase, which contributes to prolonged repolarization [emedicine.com]

Gene Ion Current Affected LQT1 11p15.5 KVLQT1 or KCNQ1 (heterozygotes) Potassium (I Ks ) LQT2 7q35-36 HERG, KCNH2 Potassium (I Kr ) LQT3 3p21-24 SCN5A Sodium (I Na ) LQT4 [emedicine.com]

It is believed that this disease is caused by a mutation in the SCN5A gene in combination with age-related degeneration and fibrosis of the His-Purkinje system and its branches [symptoma.com]

In a French family, we have identified a splicing mutation in the SCN5A gene leading to hereditary progressive cardiac conduction defect. [eurekamag.com]

Mutations in the SCN5A gene encoding the cardiac sodium channel are responsible for Brugada syndrome (BS) and also for PCCD. [genome.jp]

Genetic analysis revealed compound heterozygous mutations of the SCN5A gene in a novel combination. [ncbi.nlm.nih.gov]

Arrhythmia syndromes associated with mutations in the SCN5A gene (encoding the major sodium channel in heart) are Long-QT syndrome type 3 (LQTS3) Brugada syndrome Sinus node [metealpaslan.com]

Candidate gene screening revealed a novel mutation in the cardiac sodium channel gene SCN5A (D1275N) in all three affected living relatives and in five unaffected relatives [ncbi.nlm.nih.gov]

Causes - Long QT syndrome type 3 LQT3, caused by mutations of the SCN5A gene for the sodium channel, a gain-of-function mutation causes persistent inward sodium current in [checkorphan.org]

The long QT syndrome type 3, associated with mutations in the SCN5A gene, located on the short arm of chromosome 3 (3p21). [ivami.com]

Perspective: Approximately 5-10% of patients with long QT syndrome have LQT3, which is caused by a gain-of-function mutation in the SCN5A sodium channel gene. [acc.org]

[…] of the SCN5A gene for the sodium channel, a gain-of-function mutation causes persistent inward sodium current in the plateau phase, which contributes to prolonged repolarization [emedicine.medscape.com]

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. [frontiersin.org]

Spectrum of mutations in long-QT syndrome genes. KVLQT1, HERG, SCN5A, KCNE1, and KCNE2. Circulation. 2000 Sep 5;102(10):1178-85. [lqts.research.chop.edu]

Using genetic analysis, we noted that the proband carried a novel heterozygous missense mutation of A1055G in the SCN5A gene. [ncbi.nlm.nih.gov]

View Article : Google Scholar : PubMed/NCBI 9 Teng S, Gao L, Paajanen V, Pu J and Fan Z: Readthrough of nonsense mutation W822X in the SCN5A gene can effectively restore expression [spandidos-publications.com]

Genetic analysis revealed that the patient carried a missense mutation of c.4297 G C and a synonymous polymorphism of T5457C on the same allele of the SCN5A gene. [ncbi.nlm.nih.gov]

An overlap syndrome can be seen whereby a mutation in the SCN5A gene encoding the cardiac sodium channel causes a reduction in the peak sodium current leading to the typical [en.wikipedia.org]

[…] in the same gene. [en.wikipedia.org]

[…] and primary sclerosing cholangitis. [4] Cardiology [ edit ] In cardiology, genetic conditions such as Brugada syndrome can share features with related disorders caused by mutations [en.wikipedia.org]

Genetic analysis did not reveal mutation of the SCN5A gene. [ncbi.nlm.nih.gov]

Mutations in the SCN5A gene, encoding the α subunit of the cardiac Na( ) channel, Nav1.5, can result in several life-threatening arrhythmias. [ncbi.nlm.nih.gov]

Mutations in two genes, SCN5A and HCN4, have been found to cause the condition in a small number of families. [ghr.nlm.nih.gov]