Brugada syndrome 1; BRGDA1

Disease ID:167
Name:Brugada syndrome 1; BRGDA1
Associated with:2 targets
Synonyms
Brugada syndrome
Database Links
Disease Ontology: DOID:0050451
OMIM: 601144
Orphanet: ORPHA130

Targets

Kir6.1
References:  1
Nav1.5
Role:  Nav1.5 is the site of mutations in Brugada Syndrome Type 1, and inherited cardiac arrhythmia. More than 100 mutations have been described. Those that have been tested cause partial or complete loss of function.
Drugs:  Treated with implantable cardiac defibrillators and quinidine
References:  2-3,5
Mutations:  Nav1.5 is associated with 11 mutation. Click here for details

Ligands

No ligand related data available for Brugada syndrome 1; BRGDA1

References

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1. Barajas-Martínez H, Hu D, Ferrer T, Onetti CG, Wu Y, Burashnikov E, Boyle M, Surman T, Urrutia J, Veltmann C et al.. (2012) Molecular genetic and functional association of Brugada and early repolarization syndromes with S422L missense mutation in KCNJ8. Heart Rhythm, 9 (4): 548-55. [PMID:22056721]

2. Chen Q, Kirsch GE, Zhang D, Brugada R, Brugada J, Brugada P, Potenza D, Moya A, Borggrefe M, Breithardt G, Ortiz-Lopez R, Wang Z, Antzelevitch C, O'Brien RE, Schulze-Bahr E, Keating MT, Towbin JA, Wang Q. (1998) Genetic basis and molecular mechanism for idiopathic ventricular fibrillation. Nature, 392 (6673): 293-6. [PMID:9521325]

3. Hedley PL, Jørgensen P, Schlamowitz S, Moolman-Smook J, Kanters JK, Corfield VA, Christiansen M. (2009) The genetic basis of Brugada syndrome: a mutation update. Hum. Mutat., 30 (9): 1256-66. [PMID:19606473]

4. Mohler PJ, Rivolta I, Napolitano C, LeMaillet G, Lambert S, Priori SG, Bennett V. (2004) Nav1.5 E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. Proc. Natl. Acad. Sci. U.S.A., 101 (50): 17533-8. [PMID:15579534]

5. Márquez MF, Bonny A, Hernández-Castillo E, De Sisti A, Gómez-Flores J, Nava S, Hidden-Lucet F, Iturralde P, Cárdenas M, Tonet J. (2012) Long-term efficacy of low doses of quinidine on malignant arrhythmias in Brugada syndrome with an implantable cardioverter-defibrillator: a case series and literature review. Heart Rhythm, 9 (12): 1995-2000. [PMID:23059185]

6. Niu DM, Hwang B, Hwang HW, Wang NH, Wu JY, Lee PC, Chien JC, Shieh RC, Chen YT. (2006) A common SCN5A polymorphism attenuates a severe cardiac phenotype caused by a nonsense SCN5A mutation in a Chinese family with an inherited cardiac conduction defect. J. Med. Genet., 43 (10): 817-21. [PMID:16707561]

7. Rivolta I, Abriel H, Tateyama M, Liu H, Memmi M, Vardas P, Napolitano C, Priori SG, Kass RS. (2001) Inherited Brugada and long QT-3 syndrome mutations of a single residue of the cardiac sodium channel confer distinct channel and clinical phenotypes. J. Biol. Chem., 276 (33): 30623-30. [PMID:11410597]

8. Rook MB, Bezzina Alshinawi C, Groenewegen WA, van Gelder IC, van Ginneken AC, Jongsma HJ, Mannens MM, Wilde AA. (1999) Human SCN5A gene mutations alter cardiac sodium channel kinetics and are associated with the Brugada syndrome. Cardiovasc. Res., 44 (3): 507-17. [PMID:10690282]

9. Shin DJ, Jang Y, Park HY, Lee JE, Yang K, Kim E, Bae Y, Kim J, Kim J, Kim SS, Lee MH, Chahine M, Yoon SK. (2004) Genetic analysis of the cardiac sodium channel gene SCN5A in Koreans with Brugada syndrome. J. Hum. Genet., 49 (10): 573-8. [PMID:15338453]

10. Vatta M, Dumaine R, Varghese G, Richard TA, Shimizu W, Aihara N, Nademanee K, Brugada R, Brugada J, Veerakul G, Li H, Bowles NE, Brugada P, Antzelevitch C, Towbin JA. (2002) Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome. Hum. Mol. Genet., 11 (3): 337-45. [PMID:11823453]

11. Wang Q, Chen S, Chen Q, Wan X, Shen J, Hoeltge GA, Timur AA, Keating MT, Kirsch GE. (2004) The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel. J. Med. Genet., 41 (5): e66. [PMID:15121794]