The role of the sodium current complex in a nonreferred nationwide cohort of sudden infant death syndrome

Heart Rhythm

Volumn 12, Issue 6, 2015, Pages 1241-1249

  Winkel, Bo Gregers ^a,b   Yuan, Lei ^a,b   Olesen, Morten S ^a,b   Sadjadieh, Golnaz ^a,b   Wang, Yinman ^a,b   Risgaard, Bjarke ^a,b   Jabbari, Reza ^a,b   Haunsø, Stig ^a,b   Holst, Anders Gaarsdal ^a,b   Hollegaard, Mads Vilhelm ^c   Tfelt Hansen, Jacob ^a,b   Jespersen, Thomas ^a,b  

^a University of Copenhagen   (Denmark)

^b UNIVERSITY OF COPENHAGEN   (Denmark)

^c NONE   (Denmark)

Author keywords

[No Author keywords available]

Indexed keywords

ALPHA 1 SYNTROPHIN; CAVEOLIN 3; DNA; GLYCEROL 3 PHOSPHATE DEHYDROGENASE; GLYCEROL 3 PHOSPHATE DEHYDROGENASE LIKE PROTEIN; POTASSIUM CHANNEL KCNQ1; SODIUM CHANNEL NAV1.5; SYNTROPHIN; UNCLASSIFIED DRUG; VOLTAGE GATED SODIUM CHANNEL BETA 1 SUBUNIT; VOLTAGE GATED SODIUM CHANNEL BETA 2 SUBUNIT; VOLTAGE GATED SODIUM CHANNEL BETA 3 SUBUNIT; VOLTAGE GATED SODIUM CHANNEL BETA 4 SUBUNIT; SODIUM CHANNEL;

ARTICLE; CONTROLLED STUDY; DNA EXTRACTION; DNA SEQUENCE; DRIED BLOOD SPOT TESTING; FEMALE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC SCREENING; GENETIC VARIABILITY; HUMAN; IN VITRO STUDY; INFANT; LONG QT SYNDROME; MAJOR CLINICAL STUDY; MAJOR GENE; MALE; MISSENSE MUTATION; NEWBORN SCREENING; PATCH CLAMP TECHNIQUE; PATHOGENICITY; PRIORITY JOURNAL; SODIUM CURRENT; SUDDEN INFANT DEATH SYNDROME; DENMARK; GENETIC VARIATION; GENETICS; NEWBORN;

DENMARK; FEMALE; GENETIC VARIATION; HUMANS; INFANT; INFANT, NEWBORN; MALE; SODIUM CHANNELS; SUDDEN INFANT DEATH;

EID: 84930374025     PISSN: 15475271     EISSN: 15563871     Source Type: Journal    
DOI: 10.1016/j.hrthm.2015.03.013     Document Type: Article

References (35)

1. B.G. Winkel, A.G. Holst, J. Theilade, I.B. Kristensen, J.L. Thomsen, S.H. Hansen, J.H. Svendsen, S. Haunsø, and J. Tfelt-Hansen Sudden unexpected death in infancy in denmark Scand Cardiovasc J 45 2011 14 20
2. R.Y. Moon, R.S. Horne, and F.R. Hauck Sudden infant death syndrome Lancet 370 2007 1578 1587
3. P.J. Schwartz Cardiac sympathetic innervation and the sudden infant death syndrome: a possible pathogenetic link Am J Med 60 1976 167 172
4. B. Maron, C. Clark, R. Goldstein, and S. Epstein Potential role of QT interval prolongation in sudden infant death syndrome Circulation 54 1976 423 430
5. D.W. Van Norstrand, and M.J. Ackerman Sudden infant death syndrome: do ion channels play a role? Heart Rhythm 6 2009 272 278
6. J. Tfelt-Hansen, B.G. Winkel, M. Grunnet, and T. Jespersen Cardiac channelopathies and sudden infant death syndrome Cardiology 119 2011 21 33
7. E.C. Klaver, G.M. Versluijs, and R. Wilders Cardiac ion channel mutations in the sudden infant death syndrome Int J Cardiol 152 2011 162 170
8. M. Arnestad, L. Crotti, T.O. Rognum, R. Insolia, M. Pedrazzini, C. Ferrandi, A. Vege, D.W. Wang, T.E. Rhodes, and A.L. George Prevalence of long-QT syndrome gene variants in sudden infant death syndrome Circulation 115 2007 361 367
9. C. Andreasen, L. Refsgaard, J.B. Nielsen, A. Sajadieh, B.G. Winkel, J. Tfelt-Hansen, S. Haunsø, A.G. Holst, J.H. Svendsen, and M.S. Olesen Mutations in genes encoding cardiac ion channels previously associated with sudden infant death syndrome (SIDS) are present with high frequency in new exome data Can J Cardiol 29 2013 1104 1109
10. E. Moric, E. Herbert, M. Trusz-Gluza, A. Filipecki, U. Mazurek, and T. Wilczok The implications of genetic mutations in the sodium channel gene (SCN5A) Europace 5 2003 325 334
11. B.G. Winkel, M.K. Larsen, K.E. Berge, T.P. Leren, P.H. Nissen, M.S. Olesen, M.V. Hollegaard, T. Jespersen, L. Yuan, and N. Nielsen The prevalence of mutations in KCNQ1, KCNH2, and SCN5A in an unselected national cohort of young sudden unexplained death cases J Cardiovasc Electrophysiol 23 2012 1092 1098
12. M.J. Ackerman, B.L. Siu, W.Q. Sturner, D.J. Tester, C.R. Valdivia, J.C. Makielski, and J.A. Towbin Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome JAMA 286 2001 2264 2269
13. v1. 5 sodium channel J Cardiovasc Electrophysiol. 21 2010 107 115
14. B.-H. Tan, K.N. Pundi, D.W. Van Norstrand, C.R. Valdivia, D.J. Tester, A. Medeiros-Domingo, J.C. Makielski, and M.J. Ackerman Sudden infant death syndrome-associated mutations in the sodium channel beta subunits Heart Rhythm 7 2010 771 778
15. J. Cheng, D.W. Van Norstrand, A. Medeiros-Domingo, C. Valdivia, B-h Tan, B. Ye, S. Kroboth, M. Vatta, D.J. Tester, and C.T. January α1-Syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current Circ Arrhythm Electrophysiol 2 2009 667 676
16. D.W. Van Norstrand, C.R. Valdivia, D.J. Tester, K. Ueda, B. London, J.C. Makielski, and M.J. Ackerman Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1-like gene (GPD1-L) mutations in sudden infant death syndrome Circulation 116 2007 2253 2259
17. H.W. Hwang, J.J. Chen, Y.J. Lin, R.C. Shieh, M.T. Lee, S.I. Hung, J.Y. Wu, Y.T. Chen, D.M. Niu, and B.T. Hwang R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese J Med Genet 42 2005 e7 author reply e8
18. C.R. Valdivia, A. Medeiros-Domingo, B. Ye, W.-K. Shen, TJ Algiers, MJ Ackerman, and JC Makielski Loss-of-function mutation of the SCN3B-encoded sodium channel β3 subunit associated with a case of idiopathic ventricular fibrillation Cardiovasc Res 86 2010 392 400
19. T. Takahata, N. Yasui-Furukori, S. Sasaki, T. Igarashi, K. Okumura, A. Munakata, and T. Tateishi Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects Life Sci 72 2003 2391 2399
20. L.B. Cronk, B. Ye, T. Kaku, D.J. Tester, M. Vatta, J.C. Makielski, and M.J. Ackerman Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3 Heart Rhythm 4 2007 161 166
21. B.G. Winkel, M.V. Hollegaard, M.S. Olesen, J.H. Svendsen, S. Haunsø, D.M. Hougaard, and J. Tfelt-Hansen Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis BMC Med Genet 12 2011 22
22. M.V. Hollegaard, P. Thorsen, B. Norgaard Pedersen, and D.M. Hougaard Genotyping whole-genome amplified DNA from 3 to 25 year old neonatal dried blood spot samples with reference to fresh genomic DNA. Electrophoresis 30 2009 2532 2535.
23. M.S. Olesen, L. Yuan, and B. Liang High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation Circ Cardiovasc Genet 5 2012 450 459
24. J. Tfelt-Hansen, T. Jespersen, J. Hofman-Bang, H.B. Rasmussen, P. Cedergreen, F. Skovby, H. Abriel, J.H. Svendsen, S.-P. Olesen, and M. Christiansen Ventricular tachycardia in a Brugada syndrome patient caused by a novel deletion in SCN5A Can J Cardiol 25 2009 156 160
25. S. Chen, M. Chung, D. Martin, R. Rozich, P. Tchou, and Q. Wang SNP S1103Y in the cardiac sodium channel gene SCN5A is associated with cardiac arrhythmias and sudden death in a white family J Med Genet 39 2002 913 915
26. J. Cheng, D.J. Tester, B.H. Tan, C.R. Valdivia, S. Kroboth, B. Ye, C.T. January, M.J. Ackerman, and J.C. Makielski The common African American polymorphism SCN5A-S1103Y interacts with mutation SCN5A-R680H to increase late Na current Physiol Genom 43 2011 461 466
27. Q. Wang, S. Chen, Q. Chen, X. Wan, J. Shen, G. Hoeltge, A. Timur, M. Keating, and G. Kirsch The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel J Med Genet 41 2004 e66
28. H. Abriel Cardiac sodium channel Na(v)1.5 and interacting proteins: physiology and pathophysiology J Mol Cell Cardiol 48 2010 2 11
29. L. Meadows, and L. Isom Sodium channels as macromolecular complexes: implications for inherited arrhythmia syndromes Cardiovasc Res 67 2005 448 458
30. D. Hu, H. Barajas-Martinez, E. Burashnikov, M. Springer, Y. Wu, A. Varro, R. Pfeiffer, T.T. Koopmann, J.M. Cordeiro, and A. Guerchicoff A mutation in the β3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype Circ Cardiovasc Genet 2 2009 270 278
31. M.S. Olesen, T. Jespersen, J.B. Nielsen, B. Liang, D.V. Moller, P. Hedley, M. Christiansen, A. Varro, S.P. Olesen, S. Haunso, N. Schmitt, and J.H. Svendsen Mutations in sodium channel β-subunit SCN3B are associated with early-onset lone atrial fibrillation Cardiovasc Res 89 2011 786 793
32. K. Ueda, C. Valdivia, A. Medeiros-Domingo, D.J. Tester, M. Vatta, G. Farrugia, M.J. Ackerman, and J.C. Makielski Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex Proc Natl Acad Sci 105 2008 9355 9360
33. + current and causes inherited arrhythmias Circulation 116 2007 2260 2268
34. C. Antzelevitch, P. Brugada, M. Borggrefe, J. Brugada, R. Brugada, D. Corrado, I. Gussak, H. LeMarec, K. Nademanee, and A.R.P. Riera Brugada syndrome: report of the second consensus conference endorsed by the Heart Rhythm Society and the European Heart Rhythm Association Circulation 111 2005 659 670
35. V. Probst, A.A. Wilde, J. Barc, F. Sacher, D. Babuty, P. Mabo, J. Mansourati, S. Le Scouarnec, F. Kyndt, C. Le Caignec, P. Guicheney, L. Gouas, J. Albuisson, P.G. Meregalli, H. Le Marec, H.L. Tan, and J.J. Schott SCN5A mutations and the role of genetic background in the pathophysiology of Brugada syndrome Circ Cardiovasc Genet 2 2009 552 557