609 related articles for article (PubMed ID: 23840796)
1. 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; 8(6):e67963. PubMed ID: 23840796
[TBL] [Abstract][Full Text] [Related]
2. 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
Heart Rhythm; 2007 Jan; 4(1):46-53. PubMed ID: 17198989
[TBL] [Abstract][Full Text] [Related]
3. Novel SCN5A mutation leading either to isolated cardiac conduction defect or Brugada syndrome in a large French family.
Kyndt F; Probst V; Potet F; Demolombe S; Chevallier JC; Baro I; Moisan JP; Boisseau P; Schott JJ; Escande D; Le Marec H
Circulation; 2001 Dec; 104(25):3081-6. PubMed ID: 11748104
[TBL] [Abstract][Full Text] [Related]
4. Variable Na(v)1.5 protein expression from the wild-type allele correlates with the penetrance of cardiac conduction disease in the Scn5a(+/-) mouse model.
Leoni AL; Gavillet B; Rougier JS; Marionneau C; Probst V; Le Scouarnec S; Schott JJ; Demolombe S; Bruneval P; Huang CL; Colledge WH; Grace AA; Le Marec H; Wilde AA; Mohler PJ; Escande D; Abriel H; Charpentier F
PLoS One; 2010 Feb; 5(2):e9298. PubMed ID: 20174578
[TBL] [Abstract][Full Text] [Related]
5. 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. PubMed ID: 15851228
[TBL] [Abstract][Full Text] [Related]
6. The variant hERG/R148W associated with LQTS is a mutation that reduces current density on co-expression with the WT.
Mechakra A; Vincent Y; Chevalier P; Millat G; Ficker E; Jastrzebski M; Poulin H; Pouliot V; Chahine M; Christé G
Gene; 2014 Feb; 536(2):348-56. PubMed ID: 24334129
[TBL] [Abstract][Full Text] [Related]
7. A novel LQT-3 mutation disrupts an inactivation gate complex with distinct rate-dependent phenotypic consequences.
Bankston JR; Sampson KJ; Kateriya S; Glaaser IW; Malito DL; Chung WK; Kass RS
Channels (Austin); 2007; 1(4):273-80. PubMed ID: 18708744
[TBL] [Abstract][Full Text] [Related]
8. A homozygous SCN5A mutation in a severe, recessive type of cardiac conduction disease.
Neu A; Eiselt M; Paul M; Sauter K; Stallmeyer B; Isbrandt D; Schulze-Bahr E
Hum Mutat; 2010 Aug; 31(8):E1609-21. PubMed ID: 20564468
[TBL] [Abstract][Full Text] [Related]
9. Differential thermosensitivity in mixed syndrome cardiac sodium channel mutants.
Abdelsayed M; Peters CH; Ruben PC
J Physiol; 2015 Sep; 593(18):4201-23. PubMed ID: 26131924
[TBL] [Abstract][Full Text] [Related]
10. [Cardiac sodium channelopathy from bench to bedside].
Zhang YM; Zhou N
Zhonghua Er Ke Za Zhi; 2013 Nov; 51(11):874-7. PubMed ID: 24484568
[No Abstract] [Full Text] [Related]
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. PubMed ID: 22490985
[TBL] [Abstract][Full Text] [Related]
12. 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. PubMed ID: 26820605
[TBL] [Abstract][Full Text] [Related]
13. Gain-of-function mutation in TASK-4 channels and severe cardiac conduction disorder.
Friedrich C; Rinné S; Zumhagen S; Kiper AK; Silbernagel N; Netter MF; Stallmeyer B; Schulze-Bahr E; Decher N
EMBO Mol Med; 2014 Jul; 6(7):937-51. PubMed ID: 24972929
[TBL] [Abstract][Full Text] [Related]
14. Clinical Spectrum of SCN5A Mutations: Long QT Syndrome, Brugada Syndrome, and Cardiomyopathy.
Wilde AAM; Amin AS
JACC Clin Electrophysiol; 2018 May; 4(5):569-579. PubMed ID: 29798782
[TBL] [Abstract][Full Text] [Related]
15. 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. PubMed ID: 26279430
[TBL] [Abstract][Full Text] [Related]
16. Complex interactions in a novel SCN5A compound mutation associated with long QT and Brugada syndrome: Implications for Na+ channel blocking pharmacotherapy for de novo conduction disease.
Liu J; Bayer JD; Aschar-Sobbi R; Wauchop M; Spears D; Gollob M; Vigmond EJ; Tsushima R; Backx PH; Chauhan VS
PLoS One; 2018; 13(5):e0197273. PubMed ID: 29791480
[TBL] [Abstract][Full Text] [Related]
17. 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. PubMed ID: 24768612
[TBL] [Abstract][Full Text] [Related]
18. Genetically engineered SCN5A mutant pig hearts exhibit conduction defects and arrhythmias.
Park DS; Cerrone M; Morley G; Vasquez C; Fowler S; Liu N; Bernstein SA; Liu FY; Zhang J; Rogers CS; Priori SG; Chinitz LA; Fishman GI
J Clin Invest; 2015 Jan; 125(1):403-12. PubMed ID: 25500882
[TBL] [Abstract][Full Text] [Related]
19. Enhanced Na(+) channel intermediate inactivation in Brugada syndrome.
Wang DW; Makita N; Kitabatake A; Balser JR; George AL
Circ Res; 2000 Oct; 87(8):E37-43. PubMed ID: 11029409
[TBL] [Abstract][Full Text] [Related]
20. 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. PubMed ID: 23424222
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
