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Page 1
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. Bezzina CR, et al. Among authors: wilde aa. Nat Genet. 2013 Sep;45(9):1044-9. doi: 10.1038/ng.2712. Epub 2013 Jul 21. Nat Genet. 2013. PMID: 23872634 Free PMC article.
Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group; Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loe… See abstract for full author list ➔ Barc J, et al. Among authors: wilde aa. Nat Genet. 2022 Mar;54(3):232-239. doi: 10.1038/s41588-021-01007-6. Epub 2022 Feb 24. Nat Genet. 2022. PMID: 35210625 Free PMC article.
Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility.
Barc J, Tadros R, Glinge C, Chiang DY, Jouni M, Simonet F, Jurgens SJ, Baudic M, Nicastro M, Potet F, Offerhaus JA, Walsh R, Choi SH, Verkerk AO, Mizusawa Y, Anys S, Minois D, Arnaud M, Duchateau J, Wijeyeratne YD, Muir A, Papadakis M, Castelletti S, Torchio M, Ortuño CG, Lacunza J, Giachino DF, Cerrato N, Martins RP, Campuzano O, Van Dooren S, Thollet A, Kyndt F, Mazzanti A, Clémenty N, Bisson A, Corveleyn A, Stallmeyer B, Dittmann S, Saenen J, Noël A, Honarbakhsh S, Rudic B, Marzak H, Rowe MK, Federspiel C, Le Page S, Placide L, Milhem A, Barajas-Martinez H, Beckmann BM, Krapels IP, Steinfurt J, Winkel BG, Jabbari R, Shoemaker MB, Boukens BJ, Škorić-Milosavljević D, Bikker H, Manevy F, Lichtner P, Ribasés M, Meitinger T, Müller-Nurasyid M; KORA-Study Group; Veldink JH, van den Berg LH, Van Damme P, Cusi D, Lanzani C, Rigade S, Charpentier E, Baron E, Bonnaud S, Lecointe S, Donnart A, Le Marec H, Chatel S, Karakachoff M, Bézieau S, London B, Tfelt-Hansen J, Roden D, Odening KE, Cerrone M, Chinitz LA, Volders PG, van de Berg MP, Laurent G, Faivre L, Antzelevitch C, Kääb S, Arnaout AA, Dupuis JM, Pasquie JL, Billon O, Roberts JD, Jesel L, Borggrefe M, Lambiase PD, Mansourati J, Loe… See abstract for full author list ➔ Barc J, et al. Among authors: wilde aa. Nat Genet. 2022 May;54(5):735. doi: 10.1038/s41588-022-01079-y. Nat Genet. 2022. PMID: 35474365 No abstract available.
Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.
Behr ER, Savio-Galimberti E, Barc J, Holst AG, Petropoulou E, Prins BP, Jabbari J, Torchio M, Berthet M, Mizusawa Y, Yang T, Nannenberg EA, Dagradi F, Weeke P, Bastiaenan R, Ackerman MJ, Haunso S, Leenhardt A, Kääb S, Probst V, Redon R, Sharma S, Wilde A, Tfelt-Hansen J, Schwartz P, Roden DM, Bezzina CR, Olesen M, Darbar D, Guicheney P, Crotti L; UK10K Consortium; Jamshidi Y. Behr ER, et al. Cardiovasc Res. 2015 Jun 1;106(3):520-9. doi: 10.1093/cvr/cvv042. Epub 2015 Feb 17. Cardiovasc Res. 2015. PMID: 25691538 Free PMC article.
Impact of clinical and genetic findings on the management of young patients with Brugada syndrome.
Andorin A, Behr ER, Denjoy I, Crotti L, Dagradi F, Jesel L, Sacher F, Petit B, Mabo P, Maltret A, Wong LC, Degand B, Bertaux G, Maury P, Dulac Y, Delasalle B, Gourraud JB, Babuty D, Blom NA, Schwartz PJ, Wilde AA, Probst V. Andorin A, et al. Among authors: wilde aa. Heart Rhythm. 2016 Jun;13(6):1274-82. doi: 10.1016/j.hrthm.2016.02.013. Epub 2016 Feb 24. Heart Rhythm. 2016. PMID: 26921764
SCN5A mutations in 442 neonates and children: genotype-phenotype correlation and identification of higher-risk subgroups.
Baruteau AE, Kyndt F, Behr ER, Vink AS, Lachaud M, Joong A, Schott JJ, Horie M, Denjoy I, Crotti L, Shimizu W, Bos JM, Stephenson EA, Wong L, Abrams DJ, Davis AM, Winbo A, Dubin AM, Sanatani S, Liberman L, Kaski JP, Rudic B, Kwok SY, Rieubland C, Tfelt-Hansen J, Van Hare GF, Guyomarc'h-Delasalle B, Blom NA, Wijeyeratne YD, Gourraud JB, Le Marec H, Ozawa J, Fressart V, Lupoglazoff JM, Dagradi F, Spazzolini C, Aiba T, Tester DJ, Zahavich LA, Beauséjour-Ladouceur V, Jadhav M, Skinner JR, Franciosi S, Krahn AD, Abdelsayed M, Ruben PC, Yung TC, Ackerman MJ, Wilde AA, Schwartz PJ, Probst V. Baruteau AE, et al. Among authors: wilde aa. Eur Heart J. 2018 Aug 14;39(31):2879-2887. doi: 10.1093/eurheartj/ehy412. Eur Heart J. 2018. PMID: 30059973 Free article.
Transethnic Genome-Wide Association Study Provides Insights in the Genetic Architecture and Heritability of Long QT Syndrome.
Lahrouchi N, Tadros R, Crotti L, Mizusawa Y, Postema PG, Beekman L, Walsh R, Hasegawa K, Barc J, Ernsting M, Turkowski KL, Mazzanti A, Beckmann BM, Shimamoto K, Diamant UB, Wijeyeratne YD, Kucho Y, Robyns T, Ishikawa T, Arbelo E, Christiansen M, Winbo A, Jabbari R, Lubitz SA, Steinfurt J, Rudic B, Loeys B, Shoemaker MB, Weeke PE, Pfeiffer R, Davies B, Andorin A, Hofman N, Dagradi F, Pedrazzini M, Tester DJ, Bos JM, Sarquella-Brugada G, Campuzano Ó, Platonov PG, Stallmeyer B, Zumhagen S, Nannenberg EA, Veldink JH, van den Berg LH, Al-Chalabi A, Shaw CE, Shaw PJ, Morrison KE, Andersen PM, Müller-Nurasyid M, Cusi D, Barlassina C, Galan P, Lathrop M, Munter M, Werge T, Ribasés M, Aung T, Khor CC, Ozaki M, Lichtner P, Meitinger T, van Tintelen JP, Hoedemaekers Y, Denjoy I, Leenhardt A, Napolitano C, Shimizu W, Schott JJ, Gourraud JB, Makiyama T, Ohno S, Itoh H, Krahn AD, Antzelevitch C, Roden DM, Saenen J, Borggrefe M, Odening KE, Ellinor PT, Tfelt-Hansen J, Skinner JR, van den Berg MP, Olesen MS, Brugada J, Brugada R, Makita N, Breckpot J, Yoshinaga M, Behr ER, Rydberg A, Aiba T, Kääb S, Priori SG, Guicheney P, Tan HL, Newton-Cheh C, Ackerman MJ, Schwartz PJ, Schulze-Bahr E, Probst V,… See abstract for full author list ➔ Lahrouchi N, et al. Among authors: wilde aa. Circulation. 2020 Jul 28;142(4):324-338. doi: 10.1161/CIRCULATIONAHA.120.045956. Epub 2020 May 20. Circulation. 2020. PMID: 32429735 Free PMC article.
A sodium-channel mutation causes isolated cardiac conduction disease.
Tan HL, Bink-Boelkens MT, Bezzina CR, Viswanathan PC, Beaufort-Krol GC, van Tintelen PJ, van den Berg MP, Wilde AA, Balser JR. Tan HL, et al. Among authors: wilde aa. Nature. 2001 Feb 22;409(6823):1043-7. doi: 10.1038/35059090. Nature. 2001. PMID: 11234013
Cardiac conduction defects associate with mutations in SCN5A.
Schott JJ, Alshinawi C, Kyndt F, Probst V, Hoorntje TM, Hulsbeek M, Wilde AA, Escande D, Mannens MM, Le Marec H. Schott JJ, et al. Among authors: wilde aa. Nat Genet. 1999 Sep;23(1):20-1. doi: 10.1038/12618. Nat Genet. 1999. PMID: 10471492 No abstract available.
881 results