Brugada Syndrome 4
Last Posted: Feb 25, 2022
- Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
J Barc et al, Nature Genetics, February 24, 2022
- Inherited cardiac arrhythmias
PJ Shwartz et al, Nat Rev Dis Primers, July 2020
- A Systematic Review on the Cost-Effectiveness of Genetic and Electrocardiogram Testing for Long QT Syndrome in Infants and Young Adults.
Gonzalez Fernando Matias et al. Value Health 2015 Jul 18(5) 700-8
- Absence of Family History and Phenotype-Genotype Correlation in Pediatric Brugada Syndrome: More Burden to Bear in Clinical and Genetic Diagnosis.
Daimi Houria et al. Pediatr Cardiol 2015 Mar 11.
- Brugada Syndrome
R Brugada et al. Gene Reviews, April 2014
- Brugada syndrome: clinical and genetic findings.
Sarquella-Brugada Georgia et al. Genet. Med. 2015 Apr 23.
- Cardiac Arrhythmias: Diagnosis, Symptoms, and Treatments.
Fu Du-Guan et al. Cell Biochem. Biophys. 2015 Mar 4.
- Enhanced Classification of Brugada Syndrome- and Long QT Syndrome-Associated Genetic Variants in the SCN5A-Encoded Nav1.5 Cardiac Sodium Channel.
Kapplinger Jamie D et al. Circ Cardiovasc Genet 2015 Apr 22.
- Find out which genetic conditions and tests are associated with Brugada Syndrome
from the NIH Genetic Testing Registry
- Identification of Genetic Alterations, as Causative Genetic Defects in Long QT Syndrome, Using Next Generation Sequencing Technology.
Campuzano Oscar et al. PLoS ONE 2014 (12) e114894
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Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
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- Page last reviewed:Feb 1, 2023
- Page last updated:May 27, 2023
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