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Items: 1 to 20 of 127

1.

Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome.

Baroudi G, Acharfi S, Larouche C, Chahine M.

Circ Res. 2002 Jan 11;90(1):E11-6.

2.

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.

3.

Enhanced Na(+) channel intermediate inactivation in Brugada syndrome.

Wang DW, Makita N, Kitabatake A, Balser JR, George AL Jr.

Circ Res. 2000 Oct 13;87(8):E37-43.

4.

A novel mutation in the SCN5A gene is associated with Brugada syndrome.

Shin DJ, Kim E, Park SB, Jang WC, Bae Y, Han J, Jang Y, Joung B, Lee MH, Kim SS, Huang H, Chahine M, Yoon SK.

Life Sci. 2007 Jan 30;80(8):716-24. Epub 2006 Dec 1.

PMID:
17141278
5.

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
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7.

Cardiac Na(+) channel dysfunction in Brugada syndrome is aggravated by beta(1)-subunit.

Makita N, Shirai N, Wang DW, Sasaki K, George AL Jr, Kanno M, Kitabatake A.

Circulation. 2000 Jan 4-11;101(1):54-60.

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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.

12.

A novel SCN5A mutation, F1344S, identified in a patient with Brugada syndrome and fever-induced ventricular fibrillation.

Keller DI, Huang H, Zhao J, Frank R, Suarez V, Delacrétaz E, Brink M, Osswald S, Schwick N, Chahine M.

Cardiovasc Res. 2006 Jun 1;70(3):521-9. Epub 2006 Mar 3.

13.

A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivation.

Keller DI, Acharfi S, Delacrétaz E, Benammar N, Rotter M, Pfammatter JP, Fressart V, Guicheney P, Chahine M.

J Mol Cell Cardiol. 2003 Dec;35(12):1513-21.

PMID:
14654377
14.

A mutant cardiac sodium channel with multiple biophysical defects associated with overlapping clinical features of Brugada syndrome and cardiac conduction disease.

Shirai N, Makita N, Sasaki K, Yokoi H, Sakuma I, Sakurada H, Akai J, Kimura A, Hiraoka M, Kitabatake A.

Cardiovasc Res. 2002 Feb 1;53(2):348-54.

15.

Correlations between clinical and physiological consequences of the novel mutation R878C in a highly conserved pore residue in the cardiac Na+ channel.

Zhang Y, Wang T, Ma A, Zhou X, Gui J, Wan H, Shi R, Huang C, Grace AA, Huang CL, Trump D, Zhang H, Zimmer T, Lei M.

Acta Physiol (Oxf). 2008 Dec;194(4):311-23. doi: 10.1111/j.1748-1716.2008.01883.x. Epub 2008 Jul 24.

16.

Accelerated inactivation in a mutant Na(+) channel associated with idiopathic ventricular fibrillation.

Wan X, Chen S, Sadeghpour A, Wang Q, Kirsch GE.

Am J Physiol Heart Circ Physiol. 2001 Jan;280(1):H354-60.

17.

Clinical and electrophysiological characteristics of Brugada syndrome caused by a missense mutation in the S5-pore site of SCN5A.

Itoh H, Shimizu M, Mabuchi H, Imoto K.

J Cardiovasc Electrophysiol. 2005 Apr;16(4):378-83.

PMID:
15828879
18.

Partial expression defect for the SCN5A missense mutation G1406R depends on splice variant background Q1077 and rescue by mexiletine.

Tan BH, Valdivia CR, Song C, Makielski JC.

Am J Physiol Heart Circ Physiol. 2006 Oct;291(4):H1822-8. Epub 2006 Apr 21.

19.

Electrocardiographic characteristics and SCN5A mutations in idiopathic ventricular fibrillation associated with early repolarization.

Watanabe H, Nogami A, Ohkubo K, Kawata H, Hayashi Y, Ishikawa T, Makiyama T, Nagao S, Yagihara N, Takehara N, Kawamura Y, Sato A, Okamura K, Hosaka Y, Sato M, Fukae S, Chinushi M, Oda H, Okabe M, Kimura A, Maemura K, Watanabe I, Kamakura S, Horie M, Aizawa Y, Shimizu W, Makita N.

Circ Arrhythm Electrophysiol. 2011 Dec;4(6):874-81. doi: 10.1161/CIRCEP.111.963983. Epub 2011 Oct 25.

20.

Biophysical phenotypes of SCN5A mutations causing long QT and Brugada syndromes.

Baroudi G, Chahine M.

FEBS Lett. 2000 Dec 29;487(2):224-8.

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