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Items: 1 to 20 of 135

1.

Loss of function associated with novel mutations of the SCN5A gene in patients with Brugada syndrome.

Baroudi G, Napolitano C, Priori SG, Del Bufalo A, Chahine M.

Can J Cardiol. 2004 Mar 15;20(4):425-30.

PMID:
15057319
2.

Novel pore mutation in SCN5A manifests as a spectrum of phenotypes ranging from atrial flutter, conduction disease, and Brugada syndrome to sudden cardiac death.

Rossenbacker T, Carroll SJ, Liu H, Kuipéri C, de Ravel TJ, Devriendt K, Carmeliet P, Kass RS, Heidbüchel H.

Heart Rhythm. 2004 Nov;1(5):610-5.

PMID:
15851228
3.

Novel SCN5A mutations in two families with "Brugada-like" ST elevation in the inferior leads and conduction disturbances.

Maury P, Moreau A, Hidden-Lucet F, Leenhardt A, Fressart V, Berthet M, Denjoy I, Bennamar N, Rollin A, Cardin C, Guicheney P, Chahine M.

J Interv Card Electrophysiol. 2013 Aug;37(2):131-40. doi: 10.1007/s10840-013-9805-7. Epub 2013 Apr 24.

PMID:
23612926
4.

Novel brugada SCN5A mutation leading to ST segment elevation in the inferior or the right precordial leads.

Potet F, Mabo P, Le Coq G, Probst V, Schott JJ, Airaud F, Guihard G, Daubert JC, Escande D, Le Marec H.

J Cardiovasc Electrophysiol. 2003 Feb;14(2):200-3.

PMID:
12693506
5.

The Brugada syndrome.

Naccarelli GV, Antzelevitch C, Wolbrette DL, Luck JC.

Curr Opin Cardiol. 2002 Jan;17(1):19-23. Review.

PMID:
11790929
6.

Mechanisms of disease: current understanding and future challenges in Brugada syndrome.

Shimizu W, Aiba T, Kamakura S.

Nat Clin Pract Cardiovasc Med. 2005 Aug;2(8):408-14. Review.

PMID:
16119703
7.

A sodium channel pore mutation causing Brugada syndrome.

Pfahnl AE, Viswanathan PC, Weiss R, Shang LL, Sanyal S, Shusterman V, Kornblit C, London B, Dudley SC Jr.

Heart Rhythm. 2007 Jan;4(1):46-53. Epub 2006 Sep 28.

8.

Loss-of-function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation.

Valdivia CR, Medeiros-Domingo A, Ye B, Shen WK, Algiers TJ, Ackerman MJ, Makielski JC.

Cardiovasc Res. 2010 Jun 1;86(3):392-400. doi: 10.1093/cvr/cvp417. Epub 2009 Dec 30.

9.

Genetic analysis of Brugada syndrome in Israel: two novel mutations and possible genetic heterogeneity.

Levy-Nissenbaum E, Eldar M, Wang Q, Lahat H, Belhassen B, Ries L, Friedman E, Pras E.

Genet Test. 2001 Winter;5(4):331-4.

PMID:
11960580
10.

A mutation in the beta 3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype.

Hu D, Barajas-Martinez H, Burashnikov E, Springer M, Wu Y, Varro A, Pfeiffer R, Koopmann TT, Cordeiro JM, Guerchicoff A, Pollevick GD, Antzelevitch C.

Circ Cardiovasc Genet. 2009 Jun;2(3):270-8. doi: 10.1161/CIRCGENETICS.108.829192. Epub 2009 Apr 21.

11.

Lidocaine-induced Brugada syndrome phenotype linked to a novel double mutation in the cardiac sodium channel.

Barajas-Martínez HM, Hu D, Cordeiro JM, Wu Y, Kovacs RJ, Meltser H, Kui H, Elena B, Brugada R, Antzelevitch C, Dumaine R.

Circ Res. 2008 Aug 15;103(4):396-404. doi: 10.1161/CIRCRESAHA.108.172619. Epub 2008 Jul 3.

12.

A novel nonsense mutation in the SCN5A gene leads to Brugada syndrome and a silent gene mutation carrier state.

Keller DI, Barrane FZ, Gouas L, Martin J, Pilote S, Suarez V, Osswald S, Brink M, Guicheney P, Schwick N, Chahine M.

Can J Cardiol. 2005 Sep;21(11):925-31.

PMID:
16239976
13.

Ionic mechanisms responsible for the electrocardiographic phenotype of the Brugada syndrome are temperature dependent.

Dumaine R, Towbin JA, Brugada P, Vatta M, Nesterenko DV, Nesterenko VV, Brugada J, Brugada R, Antzelevitch C.

Circ Res. 1999 Oct 29;85(9):803-9.

14.

Nav1.5/R1193Q polymorphism is associated with both long QT and Brugada syndromes.

Huang H, Zhao J, Barrane FZ, Champagne J, Chahine M.

Can J Cardiol. 2006 Mar 15;22(4):309-13.

15.

A heterozygous deletion mutation in the cardiac sodium channel gene SCN5A with loss- and gain-of-function characteristics manifests as isolated conduction disease, without signs of Brugada or long QT syndrome.

Zumhagen S, Veldkamp MW, Stallmeyer B, Baartscheer A, Eckardt L, Paul M, Remme CA, Bhuiyan ZA, Bezzina CR, Schulze-Bahr E.

PLoS One. 2013 Jun 28;8(6):e67963. doi: 10.1371/journal.pone.0067963. Print 2013.

16.

Novel mutation in the SCN5A gene associated with arrhythmic storm development during acute myocardial infarction.

Hu D, Viskin S, Oliva A, Carrier T, Cordeiro JM, Barajas-Martinez H, Wu Y, Burashnikov E, Sicouri S, Brugada R, Rosso R, Guerchicoff A, Pollevick GD, Antzelevitch C.

Heart Rhythm. 2007 Aug;4(8):1072-80. Epub 2007 Apr 10.

17.

Double SCN5A mutation underlying asymptomatic Brugada syndrome.

Yokoi H, Makita N, Sasaki K, Takagi Y, Okumura Y, Nishino T, Makiyama T, Kitabatake A, Horie M, Watanabe I, Tsutsui H.

Heart Rhythm. 2005 Mar;2(3):285-92.

PMID:
15851320
18.

Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias.

London B, Michalec M, Mehdi H, Zhu X, Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL, Madhusudanan M, Baty CJ, Lagana S, Aleong R, Gutmann R, Ackerman MJ, McNamara DM, Weiss R, Dudley SC Jr.

Circulation. 2007 Nov 13;116(20):2260-8. Epub 2007 Oct 29.

19.

[Brugada syndrome].

Matsuo K, Yano K.

Nihon Rinsho. 2002 Jul;60(7):1408-14. Review. Japanese.

PMID:
12136622
20.

Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G).

Baroudi G, Pouliot V, Denjoy I, Guicheney P, Shrier A, Chahine M.

Circ Res. 2001 Jun 22;88(12):E78-83.

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