Brugada syndrome 3; BRGDA3

Disease ID:168
Name:Brugada syndrome 3; BRGDA3
Associated with:1 targets
0 immuno-relevant targets
0 immuno-relevant ligands
Synonyms
Brugada syndrome
Database Links
Disease Ontology: DOID:0050451
OMIM: 611875
Orphanet: ORPHA130

Targets

Cav1.2
Role:  Risk for ventricular arrhythmias and sudden cardiac death
Mutations:  Cav1.2 is associated with 13 mutation. Click here for details

Ligands

No ligand related data available for Brugada syndrome 3; BRGDA3

References

Show »

1. Antzelevitch C, Pollevick GD, Cordeiro JM, Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva A, Wollnik B et al.. (2007) Loss-of-function mutations in the cardiac calcium channel underlie a new clinical entity characterized by ST-segment elevation, short QT intervals, and sudden cardiac death. Circulation, 115 (4): 442-9. [PMID:17224476]

2. Burashnikov E, Pfeiffer R, Barajas-Martinez H, Delpón E, Hu D, Desai M, Borggrefe M, Häissaguerre M, Kanter R, Pollevick GD et al.. (2010) Mutations in the cardiac L-type calcium channel associated with inherited J-wave syndromes and sudden cardiac death. Heart Rhythm, 7 (12): 1872-82. [PMID:20817017]

3. Fukuyama M, Ohno S, Wang Q, Kimura H, Makiyama T, Itoh H, Ito M, Horie M. (2013) L-type calcium channel mutations in Japanese patients with inherited arrhythmias. Circ. J., 77 (7): 1799-806. [PMID:23575362]