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Items: 1 to 20 of 172

1.

Sudden infant death syndrome-associated mutations in the sodium channel beta subunits.

Tan BH, Pundi KN, Van Norstrand DW, Valdivia CR, Tester DJ, Medeiros-Domingo A, Makielski JC, Ackerman MJ.

Heart Rhythm. 2010 Jun;7(6):771-8. doi: 10.1016/j.hrthm.2010.01.032.

2.

Alpha1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current.

Cheng J, Van Norstrand DW, Medeiros-Domingo A, Valdivia C, Tan BH, Ye B, Kroboth S, Vatta M, Tester DJ, January CT, Makielski JC, Ackerman MJ.

Circ Arrhythm Electrophysiol. 2009 Dec;2(6):667-76. doi: 10.1161/CIRCEP.109.891440.

3.

Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome.

Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA.

JAMA. 2001 Nov 14;286(18):2264-9.

PMID:
11710892
4.

Unique mixed phenotype and unexpected functional effect revealed by novel compound heterozygosity mutations involving SCN5A.

Medeiros-Domingo A, Tan BH, Iturralde-Torres P, Tester DJ, Tusié-Luna T, Makielski JC, Ackerman MJ.

Heart Rhythm. 2009 Aug;6(8):1170-5. doi: 10.1016/j.hrthm.2009.04.034.

5.

A novel rare variant in SCN1Bb linked to Brugada syndrome and SIDS by combined modulation of Na(v)1.5 and K(v)4.3 channel currents.

Hu D, Barajas-Martínez H, Medeiros-Domingo A, Crotti L, Veltmann C, Schimpf R, Urrutia J, Alday A, Casis O, Pfeiffer R, Burashnikov E, Caceres G, Tester DJ, Wolpert C, Borggrefe M, Schwartz P, Ackerman MJ, Antzelevitch C.

Heart Rhythm. 2012 May;9(5):760-9. doi: 10.1016/j.hrthm.2011.12.006.

6.

Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3.

Cronk LB, Ye B, Kaku T, Tester DJ, Vatta M, Makielski JC, Ackerman MJ.

Heart Rhythm. 2007 Feb;4(2):161-6.

7.

A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors.

Tester DJ, Dura M, Carturan E, Reiken S, Wronska A, Marks AR, Ackerman MJ.

Heart Rhythm. 2007 Jun;4(6):733-9.

8.

SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome.

Medeiros-Domingo A, Kaku T, Tester DJ, Iturralde-Torres P, Itty A, Ye B, Valdivia C, Ueda K, Canizales-Quinteros S, Tusié-Luna MT, Makielski JC, Ackerman MJ.

Circulation. 2007 Jul 10;116(2):134-42.

9.

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.

10.

Loss-of-function mutations in the KCNJ8-encoded Kir6.1 K(ATP) channel and sudden infant death syndrome.

Tester DJ, Tan BH, Medeiros-Domingo A, Song C, Makielski JC, Ackerman MJ.

Circ Cardiovasc Genet. 2011 Oct;4(5):510-5. doi: 10.1161/CIRCGENETICS.111.960195.

11.

Cardiac channelopathies and sudden infant death syndrome.

Tfelt-Hansen J, Winkel BG, Grunnet M, Jespersen T.

Cardiology. 2011;119(1):21-33. doi: 10.1159/000329047. Review.

PMID:
21778721
12.

Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome.

Van Norstrand DW, Valdivia CR, Tester DJ, Ueda K, London B, Makielski JC, Ackerman MJ.

Circulation. 2007 Nov 13;116(20):2253-9.

13.

Mutations in the SCN5A gene: evidence for a link between long QT syndrome and sudden death?

Kiehne N, Kauferstein S.

Forensic Sci Int Genet. 2007 Jun;1(2):170-4. doi: 10.1016/j.fsigen.2007.01.009.

PMID:
19083750
14.

Novel mutations in the KCND3-encoded Kv4.3 K+ channel associated with autopsy-negative sudden unexplained death.

Giudicessi JR, Ye D, Kritzberger CJ, Nesterenko VV, Tester DJ, Antzelevitch C, Ackerman MJ.

Hum Mutat. 2012 Jun;33(6):989-97. doi: 10.1002/humu.22058.

15.

Cardiac sodium channelopathies.

Amin AS, Asghari-Roodsari A, Tan HL.

Pflugers Arch. 2010 Jul;460(2):223-37. doi: 10.1007/s00424-009-0761-0. Review.

16.

Connexin43 mutation causes heterogeneous gap junction loss and sudden infant death.

Van Norstrand DW, Asimaki A, Rubinos C, Dolmatova E, Srinivas M, Tester DJ, Saffitz JE, Duffy HS, Ackerman MJ.

Circulation. 2012 Jan 24;125(3):474-81. doi: 10.1161/CIRCULATIONAHA.111.057224.

17.

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.

18.

GPD1L links redox state to cardiac excitability by PKC-dependent phosphorylation of the sodium channel SCN5A.

Valdivia CR, Ueda K, Ackerman MJ, Makielski JC.

Am J Physiol Heart Circ Physiol. 2009 Oct;297(4):H1446-52. doi: 10.1152/ajpheart.00513.2009.

19.

A missense mutation in the sodium channel β1b subunit reveals SCN1B as a susceptibility gene underlying long QT syndrome.

Riuró H, Campuzano O, Arbelo E, Iglesias A, Batlle M, Pérez-Villa F, Brugada J, Pérez GJ, Scornik FS, Brugada R.

Heart Rhythm. 2014 Jul;11(7):1202-9. doi: 10.1016/j.hrthm.2014.03.044.

PMID:
24662403
20.

Sudden infant death syndrome: how significant are the cardiac channelopathies?

Tester DJ, Ackerman MJ.

Cardiovasc Res. 2005 Aug 15;67(3):388-96. Review.

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