Brugada syndrome 5

Common Name(s)

Brugada syndrome 5

Brugada syndrome is characterized by an ST segment elevation in the right precordial electrocardiogram leads (so-called type 1 ECG) and a high incidence of sudden death in patients with structurally normal hearts. The syndrome typically manifests during adulthood, with a mean age of sudden death of 41 +/- 15 years, but also occurs in infants and children (summary by {1:Antzelevitch et al., 2005}). For a discussion of genetic heterogeneity of Brugada syndrome, see BRGDA1 ({601144}).
 

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Brugada syndrome 5" for support, advocacy or research.

There are currently no organizations listed in Disease InfoSearch that support this condition. Create a listing.

 

 

General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Brugada syndrome 5" returned 9 free, full-text research articles on human participants. First 3 results:

Enhanced Classification of Brugada Syndrome-Associated and Long-QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Na(v)1.5 Cardiac Sodium Channel.
 

Author(s): Jamie D Kapplinger, John R Giudicessi, Dan Ye, David J Tester, Thomas E Callis, Carmen R Valdivia, Jonathan C Makielski, Arthur A Wilde, Michael J Ackerman

Journal: Circ Cardiovasc Genet. 2015 Aug;8(4):582-95.

 

A 2% to 5% background rate of rare SCN5A nonsynonymous single nucleotide variants (nsSNVs) among healthy individuals confounds clinical genetic testing. Therefore, the purpose of this study was to enhance interpretation of SCN5A nsSNVs for clinical genetic testing using estimated ...

Last Updated: 19 Aug 2015

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Unexpected α-α interactions with NaV1.5 genetic variants in Brugada syndrome.
 

Author(s): Hugues Abriel, Valentin Sottas

Journal: Circ Cardiovasc Genet. 2014 Apr;7(2):97-9.

 

Last Updated: 16 Apr 2014

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Functional characterization of a novel frameshift mutation in the C-terminus of the Nav1.5 channel underlying a Brugada syndrome with variable expression in a Spanish family.
 

Author(s): Pablo Dolz-Gaitón, Mercedes Núñez, Lucía Núñez, Adriana Barana, Irene Amorós, Marcos Matamoros, Marta Pérez-Hernández, Marta González de la Fuente, Miguel Alvarez-López, Rosa Macías-Ruiz, Luis Tercedor-Sánchez, Juan Jiménez-Jáimez, Eva Delpón, Ricardo Caballero, Juan Tamargo

Journal:

 

We functionally analyzed a frameshift mutation in the SCN5A gene encoding cardiac Na(+) channels (Nav1.5) found in a proband with repeated episodes of ventricular fibrillation who presented bradycardia and paroxysmal atrial fibrillation. Seven relatives also carry the mutation and ...

Last Updated: 23 Dec 2013

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Brugada syndrome 5" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

The Response To Ajmaline Provocation in Healthy Subjects
 

Status: Not yet recruiting

Condition Summary: Brugada Syndrome; Sudden Death

 

Last Updated: 8 Sep 2017

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