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Items: 1 to 20 of 213

1.

Brugada syndrome with a novel missense mutation in SCN5A gene: a case report from Bangladesh.

Sayeed MZ, Salam MA, Haque MZ, Islam AK.

Indian Heart J. 2014 Jan-Feb;66(1):104-7. doi: 10.1016/j.ihj.2013.12.003. Epub 2013 Dec 26.

2.

Dual phenotypic transmission in Brugada syndrome.

Hermida JS, Arnalsteen-Dassonvalle E, Kubala M, Mathiron A, Traulle S, Anbazhagan K, Hermida A, Rochette J.

Arch Cardiovasc Dis. 2013 Jun-Jul;106(6-7):366-72. doi: 10.1016/j.acvd.2013.04.007. Epub 2013 Jun 28.

3.

Myotonic dystrophy type 1 mimics and exacerbates Brugada phenotype induced by Nav1.5 sodium channel loss-of-function mutation.

Pambrun T, Mercier A, Chatelier A, Patri S, Schott JJ, Le Scouarnec S, Chahine M, Degand B, Bois P.

Heart Rhythm. 2014 Aug;11(8):1393-400. doi: 10.1016/j.hrthm.2014.04.026. Epub 2014 Apr 21.

PMID:
24768612
4.

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.

5.

[Genetic and molecular basis for sodium channel-mediated Brugada syndrome].

Barajas-Martínez H, Hu D, Antzelevitch C.

Arch Cardiol Mex. 2013 Oct-Dec;83(4):295-302. doi: 10.1016/j.acmx.2013.10.001. Epub 2013 Nov 21. Review. Spanish.

PMID:
24269159
6.

Enhanced fast-inactivated state stability of cardiac sodium channels by a novel voltage sensor SCN5A mutation, R1632C, as a cause of atypical Brugada syndrome.

Nakajima T, Kaneko Y, Saito A, Ota M, Iijima T, Kurabayashi M.

Heart Rhythm. 2015 Nov;12(11):2296-304. doi: 10.1016/j.hrthm.2015.05.032. Epub 2015 May 29.

PMID:
26031372
7.

Brugada syndrome and abnormal splicing of SCN5A in myotonic dystrophy type 1.

Wahbi K, Algalarrondo V, Bécane HM, Fressart V, Beldjord C, Azibi K, Lazarus A, Berber N, Radvanyi-Hoffman H, Stojkovic T, Béhin A, Laforêt P, Eymard B, Hatem S, Duboc D.

Arch Cardiovasc Dis. 2013 Dec;106(12):635-43. doi: 10.1016/j.acvd.2013.08.003. Epub 2013 Oct 17.

8.

A Brugada syndrome proband with compound heterozygote SCN5A mutations identified from a Chinese family in Singapore.

Tan BY, Yong RY, Barajas-Martinez H, Dumaine R, Chew YX, Wasan PS, Ching CK, Ho KL, Gan LS, Morin N, Chong AP, Yap SH, Neo JL, Yap EP, Moochhala S, Chong DT, Chow W, Seow SC, Hu D, Uttamchandani M, Teo WS.

Europace. 2016 Jun;18(6):897-904. doi: 10.1093/europace/euv058. Epub 2015 Mar 31.

PMID:
25829473
9.

De Novo Mutation in the SCN5A Gene Associated with Brugada Syndrome.

Wang L, Meng X, Yuchi Z, Zhao Z, Xu D, Fedida D, Wang Z, Huang C.

Cell Physiol Biochem. 2015;36(6):2250-62. doi: 10.1159/000430189. Epub 2015 Jul 24.

10.

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
11.

Concomitant Brugada-like and short QT electrocardiogram linked to SCN5A mutation.

Hong K, Hu J, Yu J, Brugada R.

Eur J Hum Genet. 2012 Nov;20(11):1189-92. doi: 10.1038/ejhg.2012.63. Epub 2012 Apr 11.

12.

p.Y1449C SCN5A mutation associated with overlap disorder comprising conduction disease, Brugada syndrome, and atrial flutter.

Hothi SS, Ara F, Timperley J.

J Cardiovasc Electrophysiol. 2015 Jan;26(1):93-7. doi: 10.1111/jce.12470. Epub 2014 Jul 23.

PMID:
24903439
13.

Characterization and mechanisms of action of novel NaV1.5 channel mutations associated with Brugada syndrome.

Calloe K, Refaat MM, Grubb S, Wojciak J, Campagna J, Thomsen NM, Nussbaum RL, Scheinman MM, Schmitt N.

Circ Arrhythm Electrophysiol. 2013 Feb;6(1):177-84. doi: 10.1161/CIRCEP.112.974220.

14.

Criteria to predict carriers of a novel SCN5A mutation in a large Portuguese family affected by the Brugada syndrome.

Santos LF, Rodrigues B, Moreira D, Correia E, Nunes L, Costa A, Elvas L, Pereira T, Machado JC, Castedo S, Henriques C, Matos A, Santos JO.

Europace. 2012 Jun;14(6):882-8. doi: 10.1093/europace/eur421. Epub 2012 Jan 25.

PMID:
22277643
15.

[Clinical polymorphisms and approaches of arrhythmias treatment in a family with δKPQ1505-1507 deletion in SCN5A gene].

Saber S, Houshmand M, Eftekhharzadeh M, Samiei N, Fazelifar AF, Haghjoo M, Zakliaz'minskaia EV, Gavrilenko AV.

Vestn Ross Akad Med Nauk. 2014;(5-6):52-9. Russian.

PMID:
25558681
16.

Brugada syndrome: clinical presentation and genotype-correlation with magnetic resonance imaging parameters.

Rudic B, Schimpf R, Veltmann C, Doesch C, Tülümen E, Schoenberg SO, Borggrefe M, Papavassiliu T.

Europace. 2016 Sep;18(9):1411-9. doi: 10.1093/europace/euv300. Epub 2015 Oct 28.

PMID:
26511399
17.

A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG.

Turker I, Makiyama T, Vatta M, Itoh H, Ueyama T, Shimizu A, Ai T, Horie M.

PLoS One. 2016 Aug 25;11(8):e0161872. doi: 10.1371/journal.pone.0161872. eCollection 2016.

18.

CME: Brugada-Syndrom.

Parianos D, Saguner AM.

Praxis (Bern 1994). 2017;106(5):235-241. doi: 10.1024/1661-8157/a002638. Review. German. No abstract available.

PMID:
28253814
19.

Compound Heterozygous SCN5A Mutations in a Toddler - Are they Associated with a More Severe Phenotype?

Sacilotto L, Epifanio HB, Darrieux FC, Wulkan F, Oliveira TG, Hachul DT, Pereira AD, Scanavacca MI.

Arq Bras Cardiol. 2017 Jan;108(1):70-73. doi: 10.5935/abc.20170006. Portuguese, English.

20.

A second case with arrhythmogenic cardiomyopathy, provocable Brugada ECG and SCN5A mutation.

S P.

Int J Cardiol. 2014 Feb 15;171(3):e117-8. doi: 10.1016/j.ijcard.2013.12.038. Epub 2013 Dec 27. No abstract available.

PMID:
24388542

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