메뉴 건너뛰기




Volumn 30, Issue 4, 2009, Pages 502-509

Contribution of long-QT syndrome genetic variants in sudden infant death syndrome

Author keywords

Arrythmia; Long QT syndrome; Mutations; Polymorphisms; Sudden infant death syndrome

Indexed keywords

GENOMIC DNA; POTASSIUM CHANNEL; POTASSIUM CHANNEL KCNE1; POTASSIUM CHANNEL KCNE2; POTASSIUM CHANNEL KCNH2; POTASSIUM CHANNEL KCNQ1; PROTEIN SCN5A; SODIUM CHANNEL; UNCLASSIFIED DRUG;

EID: 67349205529     PISSN: 01720643     EISSN: None     Source Type: Journal    
DOI: 10.1007/s00246-009-9417-2     Document Type: Article
Times cited : (61)

References (36)
  • 2
    • 7744243863 scopus 로고    scopus 로고
    • Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: Implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing
    • DOI 10.1016/j.hrthm.2004.07.013, PII S1547527104004047
    • MJ Ackerman I Splawski JC Makielski DJ Tester ML Will KW Timothy MT Keating G Jones M Chadha CR Burrow JC Stephens C Xu R Judson ME Curran 2004 Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing Heart Rhythm 1 600 607 (Pubitemid 39462721)
    • (2004) Heart Rhythm , vol.1 , Issue.5 , pp. 600-607
    • Ackerman, M.J.1    Splawski, I.2    Makielski, J.C.3    Tester, D.J.4    Will, M.L.5    Timothy, K.W.6    Keating, M.T.7    Jones, G.8    Chadha, M.9    Burrow, C.R.10    Stephens, J.C.11    Xu, C.12    Judson, R.13    Curran, M.E.14
  • 8
    • 33846510967 scopus 로고    scopus 로고
    • Novel mechanism for sudden infant death syndrome: Persistent late sodium current secondary to mutations in caveolin-3
    • DOI 10.1016/j.hrthm.2006.11.030, PII S1547527106022284
    • LB Cronk B Ye T Kaku DJ Tester M Vatta JC Makielski MJ Ackerman 2007 Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3 Heart Rhythm 4 161 166 (Pubitemid 46158709)
    • (2007) Heart Rhythm , vol.4 , Issue.2 , pp. 161-166
    • Cronk, L.B.1    Ye, B.2    Kaku, T.3    Tester, D.J.4    Vatta, M.5    Makielski, J.C.6    Ackerman, M.J.7
  • 10
    • 27644451488 scopus 로고    scopus 로고
    • Possible association of the human KCNE1 (minK) gene and QT interval in healthy subjects: Evidence from association and linkage analyses in Israeli families
    • DOI 10.1046/j.1529-8817.2005.00182.x
    • Y Friedlander M Vatta N Sotoodehnia R Sinnreich H Li O Manor JA Towbin DS Siscovick JD Kark 2005 Possible association of the human KCNE1 (minK) gene and QT interval in healthy subjects: evidence from association and linkage analyses in Israeli families Ann Hum Genet 69 645 656 (Pubitemid 41556319)
    • (2005) Annals of Human Genetics , vol.69 , Issue.6 , pp. 645-656
    • Friedlander, Y.1    Vatta, M.2    Sotoodehnia, N.3    Sinnreich, R.4    Li, H.5    Manor, O.6    Towbin, J.A.7    Siscovick, D.S.8    Kark, J.D.9
  • 11
    • 26444534001 scopus 로고    scopus 로고
    • Sudden cardiac death without structural heart disease: Update on the long QT and Brugada syndromes
    • I Goldenberg AJ Moss W Zareba 2005 Sudden cardiac death without structural heart disease: update on the long QT and Brugada syndromes Curr Cardiol Rep 7 349 356 (Pubitemid 41419350)
    • (2005) Current Cardiology Reports , vol.7 , Issue.5 , pp. 349-356
    • Goldenberg, I.1    Moss, A.J.2    Zareba, W.3
  • 12
    • 33644792475 scopus 로고    scopus 로고
    • Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population
    • L Gouas V Nicaud M Berthet A Forhan L Tiret B Balkau P Guicheney 2005 Association of KCNQ1, KCNE1, KCNH2 and SCN5A polymorphisms with QTc interval length in a healthy population Eur J Hum Genet 13 1213 1222
    • (2005) Eur J Hum Genet , vol.13 , pp. 1213-1222
    • Gouas, L.1    Nicaud, V.2    Berthet, M.3    Forhan, A.4    Tiret, L.5    Balkau, B.6    Guicheney, P.7
  • 13
    • 0034200837 scopus 로고    scopus 로고
    • Survey of the coding region of the HERG gene in long QT syndrome reveals six novelmutations and an amino acid polymorphism with possible phenotypic effects
    • P Laitinen H Fodstad K Piippo H Swan L Toivonen M Viitasalo J Kaprio K Kontula 2000 Survey of the coding region of the HERG gene in long QT syndrome reveals six novelmutations and an amino acid polymorphism with possible phenotypic effects Hum Mutat 15 580 581
    • (2000) Hum Mutat , vol.15 , pp. 580-581
    • Laitinen, P.1    Fodstad, H.2    Piippo, K.3    Swan, H.4    Toivonen, L.5    Viitasalo, M.6    Kaprio, J.7    Kontula, K.8
  • 15
    • 0017145176 scopus 로고
    • Potential role of QT interval prolongation in sudden infant death syndrome
    • BJ Maron CE Clark RE Goldstein SE Epstein 1976 Potential role of QT interval prolongation in sudden infant death syndrome Circulation 54 423 430
    • (1976) Circulation , vol.54 , pp. 423-430
    • Maron, B.J.1    Clark, C.E.2    Goldstein, R.E.3    Epstein, S.E.4
  • 19
    • 0035134718 scopus 로고    scopus 로고
    • A founder mutation of the potassium channel KCNQ1 in long QT syndrome: Implications for estimation of disease prevalence and molecular diagnostics
    • DOI 10.1016/S0735-1097(00)01124-4, PII S0735109700011244
    • K Piippo H Swan M Pasternack H Chapman K Paavonen M Viitasalo L Toivonen K Kontula 2001 A founder mutation of the potassium channel KCNQ1 in long QT syndrome: implications for estimation of disease prevalence and molecular diagnostics J Am Coll Cardiol 37 562 568 (Pubitemid 32147271)
    • (2001) Journal of the American College of Cardiology , vol.37 , Issue.2 , pp. 562-568
    • Piippo, K.1    Swan, H.2    Pasternack, M.3    Chapman, H.4    Paavonen, K.5    Viitasalo, M.6    Toivonen, L.7    Kontula, K.8
  • 21
    • 0017264676 scopus 로고
    • Cardiac sympathetic innervation and the sudden infant death syndrome. A possible pathogenetic link
    • PJ Schwartz 1976 Cardiac sympathetic innervation and the sudden infant death syndrome. A possible pathogenetic link Am J Med 60 167 172
    • (1976) Am J Med , vol.60 , pp. 167-172
    • Schwartz, P.J.1
  • 25
    • 21344433631 scopus 로고    scopus 로고
    • Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants
    • DOI 10.1016/j.hrthm.2005.04.021, PII S1547527105015924
    • BH Tan CR Valdivia BA Rok B Ye KM Ruwaldt DJ Tester MJ Ackerman JC Makielski 2005 Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants Heart Rhythm 2 741 747 (Pubitemid 40903682)
    • (2005) Heart Rhythm , vol.2 , Issue.7 , pp. 741-747
    • Tan, B.-H.1    Valdivia, C.R.2    Rok, B.A.3    Ye, B.4    Ruwaldt, K.M.5    Tester, D.J.6    Ackerman, M.J.7    Makielski, J.C.8
  • 26
    • 0025357123 scopus 로고
    • Categories of preventable unexpected infant deaths
    • EM Taylor JL Emery 1990 Categories of preventable unexpected infant deaths Arch Dis Child 65 535 559 (Pubitemid 20151089)
    • (1990) Archives of Disease in Childhood , vol.65 , Issue.5 , pp. 535-539
    • Taylor, E.M.1    Emery, J.L.2
  • 27
    • 22544474319 scopus 로고    scopus 로고
    • Sudden infant death syndrome: How significant are the cardiac channelopathies?
    • DOI 10.1016/j.cardiores.2005.02.013, PII S0008636305001197
    • DJ Tester MJ Ackerman 2005 Sudden infant death syndrome: how significant are the cardiac channelopathies? Cardiovasc Res 67 388 396 (Pubitemid 41024866)
    • (2005) Cardiovascular Research , vol.67 , Issue.3 , pp. 388-396
    • Tester, D.J.1    Ackerman, M.J.2
  • 28
    • 17144415220 scopus 로고    scopus 로고
    • Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing
    • DOI 10.1016/j.hrthm.2005.01.020, PII S1547527105001918
    • DJ Tester ML Will CM Haglund MJ Ackerman 2005 Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing Heart Rhythm 2 507 517 (Pubitemid 40521365)
    • (2005) Heart Rhythm , vol.2 , Issue.5 , pp. 507-517
    • Tester, D.J.1    Will, M.L.2    Haglund, C.M.3    Ackerman, M.J.4
  • 29
    • 34147146134 scopus 로고    scopus 로고
    • A mechanism for sudden infant death syndrome (SIDS): Stress-induced leak via ryanodine receptors
    • DOI 10.1016/j.hrthm.2007.02.026, PII S1547527107002275
    • DJ Tester M Dura E Carturan S Reiken A Wronska AR Marks MJ Ackerman 2007 A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors Heart Rhythm 4 733 739 (Pubitemid 46850614)
    • (2007) Heart Rhythm , vol.4 , Issue.6 , pp. 733-739
    • Tester, D.J.1    Dura, M.2    Carturan, E.3    Reiken, S.4    Wronska, A.5    Marks, A.R.6    Ackerman, M.J.7
  • 31
    • 36048965546 scopus 로고    scopus 로고
    • Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1-like gene (GPD1-L) mutations in sudden infant death syndrome
    • DOI 10.1161/CIRCULATIONAHA.107.704627
    • DW Van Norstrand CR Valdivia DJ Tester K Ueda B London JC Makielski MJ Ackerman 2007 Molecular and functional characterization of novel glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) mutations in sudden infant death syndrome Circulation 116 2253 2259 (Pubitemid 350100330)
    • (2007) Circulation , vol.116 , Issue.20 , pp. 2253-2259
    • Van Norstrand, D.W.1    Valdivia, C.R.2    Tester, D.J.3    Ueda, K.4    London, B.5    Makielski, J.C.6    Ackerman, M.J.7
  • 32
    • 0037314358 scopus 로고    scopus 로고
    • A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation
    • DOI 10.1172/JCI200316879
    • PC Viswanathan DW Benson JR Balser 2003 A common SCN5A polymorphism modulates the biophysical effects of an SCN5A mutation J Clin Invest 111 315 316 (Pubitemid 36182210)
    • (2003) Journal of Clinical Investigation , vol.111 , Issue.3 , pp. 341-346
    • Viswanathan, P.C.1    Benson, D.W.2    Balser, J.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.