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Brugada syndrome 9; BRGDA9

Disease ID:1163
Name:Brugada syndrome 9; BRGDA9
Associated with:1 target
Synonyms
Brugada syndrome
Database Links
Disease Ontology: DOID:0050451
OMIM: 616399
Orphanet: ORPHA130

Targets

Kv4.3
References:  1-2
Mutations:  Kv4.3 is associated with 2 mutation. Click here for details

Ligands

No ligand related data available for Brugada syndrome 9; BRGDA9

References

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1. Giudicessi JR, Ye D, Tester DJ, Crotti L, Mugione A, Nesterenko VV, Albertson RM, Antzelevitch C, Schwartz PJ, Ackerman MJ. (2011) Transient outward current (I(to)) gain-of-function mutations in the KCND3-encoded Kv4.3 potassium channel and Brugada syndrome. Heart Rhythm, 8 (7): 1024-32. [PMID:21349352]

2. You T, Mao W, Cai B, Li F, Xu H. (2015) Two novel Brugada syndrome-associated mutations increase KV4.3 membrane expression and function. Int. J. Mol. Med., 36 (1): 309-15. [PMID:26016905]