Brugada Syndrome 3
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
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
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:Oct 1, 2023
- Page last updated:Dec 02, 2023
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