|
1
|
Brugada R, Campuzano O, Sarquella-Brugada
G, Brugada J and Brugada P: Brugada syndrome. Methodist Debakey
Cardiovasc J. 10:25–28. 2014. View Article : Google Scholar : PubMed/NCBI
|
|
2
|
Potet F, Mabo P, Le Coq G, Probst V,
Schott JJ, Airaud F, Guihard G, Daubert JC, Escande D and Le Marec
H: Novel brugada SCN5A mutation leading to ST segment elevation in
the inferior or the right precordial leads. J Cardiovasc
Electrophysiol. 14:200–203. 2003. View Article : Google Scholar : PubMed/NCBI
|
|
3
|
Chen Q, Kirsch GE, Zhang D, Brugada R,
Brugada J, Brugada P, Potenza D, Moya A, Borggrefe M, Breithardt G,
et al: Genetic basis and molecular mechanism for idiopathic
ventricular fibrillation. Nature. 392:293–296. 1998. View Article : Google Scholar : PubMed/NCBI
|
|
4
|
Antzelevitch C: Ion channels and
ventricular arrhythmias: Cellular and ionic mechanisms underlying
the Brugada syndrome. Curr Opin Cardiol. 14:274–279. 1999.
View Article : Google Scholar : PubMed/NCBI
|
|
5
|
Antzelevitch C: Genetic basis of brugada
syndrome. Heart Rhythm. 4:756–757. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
6
|
Moric E, Herbert E, Trusz-Gluza M,
Filipecki A, Mazurek U and Wilczok T: The implications of genetic
mutations in the sodium channel gene (SCN5A). Europace. 5:325–334.
2003. View Article : Google Scholar
|
|
7
|
Priori SG, Napolitano C, Gasparini M,
Pappone C, Della Bella P, Giordano U, Bloise R, Giustetto C, De
Nardis R, Grillo M, et al: Natural history of Brugada syndrome:
Insights for risk stratification and management. Circulation.
105:1342–1347. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
8
|
Schulze-Bahr E, Eckardt L, Breithardt G,
Seidl K, Wichter T, Wolpert C, Borggrefe M and Haverkamp W: Sodium
channel gene (SCN5A) mutations in 44 index patients with Brugada
syndrome: Different incidences in familial and sporadic disease.
Hum Mutat. 21:651–652. 2003. View Article : Google Scholar
|
|
9
|
Priori SG, Napolitano C, Gasparini M,
Pappone C, Della Bella P, Brignole M, Giordano U, Giovannini T,
Menozzi C, Bloise R, et al: Clinical and genetic heterogeneity of
right bundle branch block and ST-segment elevation syndrome: A
prospective evaluation of 52 families. Circulation. 102:2509–2515.
2000. View Article : Google Scholar : PubMed/NCBI
|
|
10
|
Bai R, Napolitano C, Bloise R, Monteforte
N and Priori SG: Yield of genetic screening in inherited cardiac
channelopathies: How to prioritize access to genetic testing. Circ
Arrhythm Electrophysiol. 2:6–15. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
11
|
Kapplinger JD, Tester DJ, Alders M, Benito
B, Berthet M, Brugada J, Brugada P, Fressart V, Guerchicoff A,
Harris-Kerr C, et al: An international compendium of mutations in
the SCN5A-encoded cardiac sodium channel in patients referred for
Brugada syndrome genetic testing. Heart Rhythm. 7:33–46. 2010.
View Article : Google Scholar : PubMed/NCBI
|
|
12
|
Campuzano O, Allegue C, Iglesias A and
Brugada R: Genetic basis of Brugada syndrome. J Genet Syndr Gene
Ther. 4:72013.
|
|
13
|
Delpón E, Cordeiro JM, Núñez L, Thomsen
PE, Guerchicoff A, Pollevick GD, Wu Y, Kanters JK, Larsen CT,
Hofman-Bang J, et al: Functional effects of KCNE3 mutation and its
role in the development of Brugada syndrome. Circ Arrhythm
Electrophysiol. 1:209–218. 2008. View Article : Google Scholar
|
|
14
|
London B, Michalec M, Mehdi H, Zhu X,
Kerchner L, Sanyal S, Viswanathan PC, Pfahnl AE, Shang LL,
Madhusudanan M, et al: Mutation in glycerol-3-phosphate
dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+
current and causes inherited arrhythmias. Circulation.
116:2260–2268. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
15
|
Watanabe H, Koopmann TT, Le Scouarnec S,
Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F,
Escande D, et al: Sodium channel β1 subunit mutations
associated with Brugada syndrome and cardiac conduction disease in
humans. J Clin Invest. 118:2260–2268. 2008.PubMed/NCBI
|
|
16
|
Antzelevitch C, Pollevick GD, Cordeiro JM,
Casis O, Sanguinetti MC, Aizawa Y, Guerchicoff A, Pfeiffer R, Oliva
A, Wollnik B, et al: 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. 115:442–449. 2007. View Article : Google Scholar : PubMed/NCBI
|
|
17
|
Weiss R, Barmada MM, Nguyen T, Seibel JS,
Cavlovich D, Kornblit CA, Angelilli A, Villanueva F, McNamara DM
and London B: Clinical and molecular heterogeneity in the Brugada
syndrome: A novel gene locus on chromosome 3. Circulation.
105:707–713. 2002. View Article : Google Scholar : PubMed/NCBI
|
|
18
|
Hedley PL, Jørgensen P, Schlamowitz S,
Moolman-Smook J, Kanters JK, Corfield VA and Christiansen M: The
genetic basis of Brugada syndrome: A mutation update. Hum Mutat.
30:1256–1266. 2009. View Article : Google Scholar : PubMed/NCBI
|
|
19
|
Gui J, Wang T, Jones RPO, Trump D, Zimmer
T and Lei M: Multiple loss-of-function mechanisms contribute to
SCN5A-related familial Sick Sinus Syndrome. PLoS ONE. 5:e109852010.
View Article : Google Scholar : PubMed/NCBI
|
