Format
Sort by

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 102

1.

A heterozygous missense SCN5A mutation associated with early repolarization syndrome.

Li N, Wang R, Hou C, Zhang Y, Teng S, Pu J.

Int J Mol Med. 2013 Sep;32(3):661-7. doi: 10.3892/ijmm.2013.1422.

PMID:
23799537
2.

A novel mutation in the SCN5A gene contributes to arrhythmogenic characteristics of early repolarization syndrome.

Guo Q, Ren L, Chen X, Hou C, Chu J, Pu J, Zhang S.

Int J Mol Med. 2016 Mar;37(3):727-33. doi: 10.3892/ijmm.2016.2468.

3.

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.

4.

A truncating SCN5A mutation combined with genetic variability causes sick sinus syndrome and early atrial fibrillation.

Ziyadeh-Isleem A, Clatot J, Duchatelet S, Gandjbakhch E, Denjoy I, Hidden-Lucet F, Hatem S, Deschênes I, Coulombe A, Neyroud N, Guicheney P.

Heart Rhythm. 2014 Jun;11(6):1015-23. doi: 10.1016/j.hrthm.2014.02.021.

5.

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.

6.

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.

7.

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.

PMID:
24768612
8.

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.

PMID:
23612926
9.

Missense mutations in plakophilin-2 cause sodium current deficit and associate with a Brugada syndrome phenotype.

Cerrone M, Lin X, Zhang M, Agullo-Pascual E, Pfenniger A, Chkourko Gusky H, Novelli V, Kim C, Tirasawadichai T, Judge DP, Rothenberg E, Chen HS, Napolitano C, Priori SG, Delmar M.

Circulation. 2014 Mar 11;129(10):1092-103. doi: 10.1161/CIRCULATIONAHA.113.003077.

10.

SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia.

Musa H, Kline CF, Sturm AC, Murphy N, Adelman S, Wang C, Yan H, Johnson BL, Csepe TA, Kilic A, Higgins RS, Janssen PM, Fedorov VV, Weiss R, Salazar C, Hund TJ, Pitt GS, Mohler PJ.

Proc Natl Acad Sci U S A. 2015 Oct 6;112(40):12528-33. doi: 10.1073/pnas.1516430112.

11.

p.D1690N Nav1.5 rescues p.G1748D mutation gating defects in a compound heterozygous Brugada syndrome patient.

Núñez L, Barana A, Amorós I, de la Fuente MG, Dolz-Gaitón P, Gómez R, Rodríguez-García I, Mosquera I, Monserrat L, Delpón E, Caballero R, Castro-Beiras A, Tamargo J.

Heart Rhythm. 2013 Feb;10(2):264-72. doi: 10.1016/j.hrthm.2012.10.025.

PMID:
23085483
12.

Loss-of-function of the voltage-gated sodium channel NaV1.5 (channelopathies) in patients with irritable bowel syndrome.

Beyder A, Mazzone A, Strege PR, Tester DJ, Saito YA, Bernard CE, Enders FT, Ek WE, Schmidt PT, Dlugosz A, Lindberg G, Karling P, Ohlsson B, Gazouli M, Nardone G, Cuomo R, Usai-Satta P, Galeazzi F, Neri M, Portincasa P, Bellini M, Barbara G, Camilleri M, Locke GR 3rd, Talley NJ, D'Amato M, Ackerman MJ, Farrugia G.

Gastroenterology. 2014 Jun;146(7):1659-68. doi: 10.1053/j.gastro.2014.02.054.

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.

A common SCN5A polymorphism modulates the biophysical defects of SCN5A mutations.

Shinlapawittayatorn K, Du XX, Liu H, Ficker E, Kaufman ES, Deschênes I.

Heart Rhythm. 2011 Mar;8(3):455-62. doi: 10.1016/j.hrthm.2010.11.034.

15.

SCN5A mutation in Chinese patients with arrhythmogenic right ventricular dysplasia.

Yu J, Hu J, Dai X, Cao Q, Xiong Q, Liu X, Liu X, Shen Y, Chen Q, Hua W, Hong K.

Herz. 2014 Mar;39(2):271-5. doi: 10.1007/s00059-013-3998-5.

PMID:
24317018
16.

[Clinic and genetic polymorphism of Brugada syndrome in Russian patients, caused by mutation in SCN5A gene].

Zakliaz'minskaia EV, Shestak AG, Revishvili ASh, Pronicheva IV, Podoliak DG, Nechaenko MA, Poliakov AV, Dzemeshkevich SL.

Khirurgiia (Mosk). 2013;(2):49-53. Russian.

PMID:
23503384
17.

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.

PMID:
26031372
18.

A mutation causing Brugada syndrome identifies a mechanism for altered autonomic and oxidant regulation of cardiac sodium currents.

Aiba T, Farinelli F, Kostecki G, Hesketh GG, Edwards D, Biswas S, Tung L, Tomaselli GF.

Circ Cardiovasc Genet. 2014 Jun;7(3):249-56. doi: 10.1161/CIRCGENETICS.113.000480.

19.

Digenic inheritance novel mutations in SCN5a and SNTA1 increase late I(Na) contributing to LQT syndrome.

Hu RM, Tan BH, Orland KM, Valdivia CR, Peterson A, Pu J, Makielski JC.

Am J Physiol Heart Circ Physiol. 2013 Apr 1;304(7):H994-H1001. doi: 10.1152/ajpheart.00705.2012.

20.

Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation.

Park JK, Martin LJ, Zhang X, Jegga AG, Benson DW.

Heart Rhythm. 2012 Jul;9(7):1090-6. doi: 10.1016/j.hrthm.2012.02.023.

Items per page

Supplemental Content

Support Center