Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death.

Bezzina CR, Barc J, Mizusawa Y, Remme CA, Gourraud JB, Simonet F, Verkerk AO, Schwartz PJ, Crotti L, Dagradi F, Guicheney P, Fressart V, Leenhardt A, Antzelevitch C, Bartkowiak S, Borggrefe M, Schimpf R, Schulze-Bahr E, Zumhagen S, Behr ER, Bastiaenen R, Tfelt-Hansen J, Olesen MS, Kääb S, Beckmann BM, Weeke P, Watanabe H, Endo N, Minamino T, Horie M, Ohno S, Hasegawa K, Makita N, Nogami A, Shimizu W, Aiba T, Froguel P, Balkau B, Lantieri O, Torchio M, Wiese C, Weber D, Wolswinkel R, Coronel R, Boukens BJ, Bézieau S, Charpentier E, Chatel S, Despres A, Gros F, Kyndt F, Lecointe S, Lindenbaum P, Portero V, Violleau J, Gessler M, Tan HL, Roden DM, Christoffels VM, Le Marec H, Wilde AA, Probst V, Schott JJ, Dina C, Redon R
Nat Genet. 2013 45 (9): 1044-9

PMID: 23872634 · PMCID: PMC3869788 · DOI:10.1038/ng.2712

MeSH Terms (22)

Alleles Animals Basic Helix-Loop-Helix Transcription Factors Brugada Syndrome Case-Control Studies Chromosomes, Human, Pair 3 Chromosomes, Human, Pair 6 Death, Sudden, Cardiac Female Genetic Predisposition to Disease Genetic Variation Genome-Wide Association Study Humans Male Mice Mice, Knockout NAV1.5 Voltage-Gated Sodium Channel NAV1.8 Voltage-Gated Sodium Channel Odds Ratio Polymorphism, Single Nucleotide Repressor Proteins Sodium Channels

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