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Volumn 7, Issue 6, 2010, Pages 771-778

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

Author keywords

Beta subunits; Genetics; Ion channel; SCN5A; SIDS

Indexed keywords

SODIUM CHANNEL; SODIUM CHANNEL 1B; SODIUM CHANNEL 2B; SODIUM CHANNEL 3B; SODIUM CHANNEL 4B; SODIUM CHANNEL NAV1.5; UNCLASSIFIED DRUG;

EID: 77952552172     PISSN: 15475271     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.hrthm.2010.01.032     Document Type: Article
Times cited : (103)

References (35)
  • 1
    • 3042798289 scopus 로고    scopus 로고
    • Sudden infant death syndrome and unclassified sudden infant deaths: a definitional and diagnostic approach
    • Krous H.F., Beckwith J.B., Byard R.W., et al. Sudden infant death syndrome and unclassified sudden infant deaths: a definitional and diagnostic approach. Pediatrics 114 (2004) 234-238
    • (2004) Pediatrics , vol.114 , pp. 234-238
    • Krous, H.F.1    Beckwith, J.B.2    Byard, R.W.3
  • 2
    • 34347386731 scopus 로고    scopus 로고
    • Infant mortality statistics from the 2004 period linked birth/infant death data set
    • Mathews T.J., and MacDorman M.F. Infant mortality statistics from the 2004 period linked birth/infant death data set. Natl Vital Stat Rep 55 (2007) 1-32
    • (2007) Natl Vital Stat Rep , vol.55 , pp. 1-32
    • Mathews, T.J.1    MacDorman, M.F.2
  • 3
    • 22544474319 scopus 로고    scopus 로고
    • Sudden infant death syndrome: how significant are the cardiac channelopathies?
    • Tester D.J., and Ackerman M.J. Sudden infant death syndrome: how significant are the cardiac channelopathies?. Cardiovasc Res 67 (2005) 388-396
    • (2005) Cardiovasc Res , vol.67 , pp. 388-396
    • Tester, D.J.1    Ackerman, M.J.2
  • 4
    • 34147146134 scopus 로고    scopus 로고
    • A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors
    • Tester D.J., Dura M., Carturan E., et al. A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. Heart Rhythm 4 (2007) 733-739
    • (2007) Heart Rhythm , vol.4 , pp. 733-739
    • Tester, D.J.1    Dura, M.2    Carturan, E.3
  • 5
    • 17144450747 scopus 로고    scopus 로고
    • Prolongation of the QT interval and the sudden infant death syndrome
    • Schwartz P.J., Stramba-Badiale M., Segantini A., et al. Prolongation of the QT interval and the sudden infant death syndrome. N Engl J Med 338 (1998) 1709-1714
    • (1998) N Engl J Med , vol.338 , pp. 1709-1714
    • Schwartz, P.J.1    Stramba-Badiale, M.2    Segantini, A.3
  • 6
    • 0034721235 scopus 로고    scopus 로고
    • A molecular link between the sudden infant death syndrome and the long-QT syndrome
    • Schwartz P.J., Priori S.G., Dumaine R., et al. A molecular link between the sudden infant death syndrome and the long-QT syndrome. N Engl J Med 343 (2000) 262-267
    • (2000) N Engl J Med , vol.343 , pp. 262-267
    • Schwartz, P.J.1    Priori, S.G.2    Dumaine, R.3
  • 7
    • 0346727397 scopus 로고    scopus 로고
    • Sudden death associated with short-QT syndrome linked mutations in HERG
    • Brugada R., Hong K., Dumaine R., et al. Sudden death associated with short-QT syndrome linked mutations in HERG. Circulation 109 (2004) 30-35
    • (2004) Circulation , vol.109 , pp. 30-35
    • Brugada, R.1    Hong, K.2    Dumaine, R.3
  • 8
    • 33846046495 scopus 로고    scopus 로고
    • Prevalence of long-QT syndrome gene variants in sudden infant death syndrome
    • Arnestad M., Crotti L., Rognum T.O., et al. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation 115 (2007) 361-367
    • (2007) Circulation , vol.115 , pp. 361-367
    • Arnestad, M.1    Crotti, L.2    Rognum, T.O.3
  • 9
    • 0035860984 scopus 로고    scopus 로고
    • Post-mortem molecular analysis of SCN5A defects in sudden infant death syndrome
    • Ackerman M.J., Siu B.L., Sturner W.Q., et al. Post-mortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 286 (2001) 2264-2269
    • (2001) JAMA , vol.286 , pp. 2264-2269
    • Ackerman, M.J.1    Siu, B.L.2    Sturner, W.Q.3
  • 10
    • 0031916794 scopus 로고    scopus 로고
    • The long QT syndrome: ion channel diseases of the heart
    • Ackerman M.J. The long QT syndrome: ion channel diseases of the heart. Mayo Clin Proc 73 (1998) 250-269
    • (1998) Mayo Clin Proc , vol.73 , pp. 250-269
    • Ackerman, M.J.1
  • 11
    • 0029097799 scopus 로고
    • Molecular mechanism for an inherited cardiac arrhythmia
    • Bennett P.B., Yazawa K., Makita N., and George Jr. A.L. Molecular mechanism for an inherited cardiac arrhythmia. Nature 376 (1995) 683-685
    • (1995) Nature , vol.376 , pp. 683-685
    • Bennett, P.B.1    Yazawa, K.2    Makita, N.3    George Jr., A.L.4
  • 12
    • 0028905566 scopus 로고
    • SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
    • Wang Q., Shen J., Splawski I., et al. SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome. Cell 80 (1995) 805-811
    • (1995) Cell , vol.80 , pp. 805-811
    • Wang, Q.1    Shen, J.2    Splawski, I.3
  • 13
    • 0036955527 scopus 로고    scopus 로고
    • Brugada syndrome: a decade of progress
    • Antzelevitch C., Brugada P., Brugada J., et al. Brugada syndrome: a decade of progress. Circ Res 91 (2002) 1114-1118
    • (2002) Circ Res , vol.91 , pp. 1114-1118
    • Antzelevitch, C.1    Brugada, P.2    Brugada, J.3
  • 14
    • 33751016041 scopus 로고    scopus 로고
    • Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome
    • Vatta M., Ackerman M.J., Ye B., et al. Mutant caveolin-3 induces persistent late sodium current and is associated with long-QT syndrome. Circulation 114 (2006) 2104-2112
    • (2006) Circulation , vol.114 , pp. 2104-2112
    • Vatta, M.1    Ackerman, M.J.2    Ye, B.3
  • 15
    • 33846510967 scopus 로고    scopus 로고
    • Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3
    • Cronk L.B., Ye B., Kaku T., et al. Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. Heart Rhythm 4 (2007) 161-166
    • (2007) Heart Rhythm , vol.4 , pp. 161-166
    • Cronk, L.B.1    Ye, B.2    Kaku, T.3
  • 16
    • 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
    • Van Norstrand D.W., Valdivia C.R., Tester D.J., et al. 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
    • (2007) Circulation , vol.116 , pp. 2253-2259
    • Van Norstrand, D.W.1    Valdivia, C.R.2    Tester, D.J.3
  • 17
    • 36049001507 scopus 로고    scopus 로고
    • Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias
    • London B., Michalec M., Mehdi H., et al. Mutation in glycerol-3-phosphate dehydrogenase 1 like gene (GPD1-L) decreases cardiac Na+ current and causes inherited arrhythmias. Circulation 116 (2007) 2260-2268
    • (2007) Circulation , vol.116 , pp. 2260-2268
    • London, B.1    Michalec, M.2    Mehdi, H.3
  • 18
    • 73949159312 scopus 로고    scopus 로고
    • a1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current
    • Cheng J., Van Norstrand D.W., Medeiros-Domingo A., et al. a1-syntrophin mutations identified in sudden infant death syndrome cause an increase in late cardiac sodium current. Circ Arrhythmia Electrophysiol 2 (2009) 667-676
    • (2009) Circ Arrhythmia Electrophysiol , vol.2 , pp. 667-676
    • Cheng, J.1    Van Norstrand, D.W.2    Medeiros-Domingo, A.3
  • 19
    • 48249148221 scopus 로고    scopus 로고
    • Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex
    • Ueda K., Valdivia C.R., Medeiros-Domingo A., et al. Syntrophin mutation associated with long QT syndrome through activation of the nNOS-SCN5A macromolecular complex. Proc Natl Acad Sci U S A 105 (2008) 9355-9360
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 9355-9360
    • Ueda, K.1    Valdivia, C.R.2    Medeiros-Domingo, A.3
  • 20
    • 15744405775 scopus 로고    scopus 로고
    • E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes
    • 17533-17438
    • Mohler P.J., Rivolta I., Napolitano C., LeMaillet G., Lambert S., and Priori S.G. E1053K mutation causing Brugada syndrome blocks binding to ankyrin-G and expression of Nav1.5 on the surface of cardiomyocytes. Proc Natl Acad Sci U S A 101 (2004) 17533-17438
    • (2004) Proc Natl Acad Sci U S A , vol.101
    • Mohler, P.J.1    Rivolta, I.2    Napolitano, C.3    LeMaillet, G.4    Lambert, S.5    Priori, S.G.6
  • 21
    • 69549145477 scopus 로고    scopus 로고
    • A mutation in the beta3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype
    • Hu D., Barajas-Martinez H., Burashnikov E., et al. A mutation in the beta3 subunit of the cardiac sodium channel associated with Brugada ECG phenotype. Circ Cardiovasc Genet 2 (2009) 270-278
    • (2009) Circ Cardiovasc Genet , vol.2 , pp. 270-278
    • Hu, D.1    Barajas-Martinez, H.2    Burashnikov, E.3
  • 22
    • 45749090058 scopus 로고    scopus 로고
    • Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans
    • Watanabe H., Koopmann T.T., Le S.S., et al. Sodium channel β1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest 118 (2008) 2260-2268
    • (2008) J Clin Invest , vol.118 , pp. 2260-2268
    • Watanabe, H.1    Koopmann, T.T.2    Le, S.S.3
  • 23
    • 70349451838 scopus 로고    scopus 로고
    • Mutations in sodium channel beta1 and beta2 subunits associated with atrial fibrillation
    • Watanabe H., Darbar D., Kaiser D.W., et al. Mutations in sodium channel beta1 and beta2 subunits associated with atrial fibrillation. Circ Arrhythmia Electrophysiol 2 (2009) 268-275
    • (2009) Circ Arrhythmia Electrophysiol , vol.2 , pp. 268-275
    • Watanabe, H.1    Darbar, D.2    Kaiser, D.W.3
  • 24
    • 77952674758 scopus 로고    scopus 로고
    • Loss of function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation
    • Valdivia C.R., Medeiros-Domingo A., Ye B., et al. Loss of function mutation of the SCN3B-encoded sodium channel {beta}3 subunit associated with a case of idiopathic ventricular fibrillation. Cardiovasc Res (2009) cvp417
    • (2009) Cardiovasc Res
    • Valdivia, C.R.1    Medeiros-Domingo, A.2    Ye, B.3
  • 25
    • 34447307435 scopus 로고    scopus 로고
    • SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome
    • Medeiros-Domingo A., Kaku T., Tester D.J., et al. SCN4B-encoded sodium channel beta4 subunit in congenital long-QT syndrome. Circulation 116 (2007) 134-142
    • (2007) Circulation , vol.116 , pp. 134-142
    • Medeiros-Domingo, A.1    Kaku, T.2    Tester, D.J.3
  • 26
    • 0032416258 scopus 로고    scopus 로고
    • Temperature dependence of early and late currents in human cardiac wild-type and long Q-T DeltaKPQ Na+ channels
    • Nagatomo T., Fan Z., Ye B., et al. Temperature dependence of early and late currents in human cardiac wild-type and long Q-T DeltaKPQ Na+ channels. Am J Physiol 275 (1998) H2016-H2024
    • (1998) Am J Physiol , vol.275
    • Nagatomo, T.1    Fan, Z.2    Ye, B.3
  • 27
    • 44949097364 scopus 로고    scopus 로고
    • Contractile regulation by overexpressed ETA requires intact T tubules in adult rat ventricular myocytes
    • Chung K.Y., Kang M., and Walker J.W. Contractile regulation by overexpressed ETA requires intact T tubules in adult rat ventricular myocytes. Am J Physiol Heart Circ Physiol 294 (2008) H2391-H2399
    • (2008) Am J Physiol Heart Circ Physiol , vol.294
    • Chung, K.Y.1    Kang, M.2    Walker, J.W.3
  • 28
    • 21344433631 scopus 로고    scopus 로고
    • Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants
    • Tan B.-H., Valdivia C.R., Rok B.A., et al. Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm 2 (2005) 741-747
    • (2005) Heart Rhythm , vol.2 , pp. 741-747
    • Tan, B.-H.1    Valdivia, C.R.2    Rok, B.A.3
  • 29
    • 22544486622 scopus 로고    scopus 로고
    • Sodium channels as macromolecular complexes: implications for inherited arrhythmia syndromes
    • Meadows L.S., and Isom L.L. Sodium channels as macromolecular complexes: implications for inherited arrhythmia syndromes. Cardiovasc Res 67 (2005) 448-458
    • (2005) Cardiovasc Res , vol.67 , pp. 448-458
    • Meadows, L.S.1    Isom, L.L.2
  • 30
    • 0037076493 scopus 로고    scopus 로고
    • Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B
    • Wallace R.H., Scheffer I.E., Parasivam G., et al. Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 58 (2002) 1426-1429
    • (2002) Neurology , vol.58 , pp. 1426-1429
    • Wallace, R.H.1    Scheffer, I.E.2    Parasivam, G.3
  • 31
    • 29644441868 scopus 로고    scopus 로고
    • Distinct domains of the sodium channel beta3-subunit modulate channel-gating kinetics and subcellular location
    • Yu E.J., Ko S., Lenkowski P.W., Pance A., Patel M.K., and Jackson A.P. Distinct domains of the sodium channel beta3-subunit modulate channel-gating kinetics and subcellular location. Biochem J 392 (2005) 519-526
    • (2005) Biochem J , vol.392 , pp. 519-526
    • Yu, E.J.1    Ko, S.2    Lenkowski, P.W.3    Pance, A.4    Patel, M.K.5    Jackson, A.P.6
  • 32
    • 33644603393 scopus 로고    scopus 로고
    • Time-dependent block and resurgent tail currents induced by mouse beta4154-167 peptide in cardiac Na+ channels
    • Wang G.K., Edrich T., and Wang S.Y. Time-dependent block and resurgent tail currents induced by mouse beta4154-167 peptide in cardiac Na+ channels. J Gen Physiol 127 (2006) 277-289
    • (2006) J Gen Physiol , vol.127 , pp. 277-289
    • Wang, G.K.1    Edrich, T.2    Wang, S.Y.3
  • 33
    • 12344303542 scopus 로고    scopus 로고
    • Open-channel block by the cytoplasmic tail of sodium channel beta4 as a mechanism for resurgent sodium current
    • Grieco T.M., Malhotra J.D., Chen C., Isom L.L., and Raman I.M. Open-channel block by the cytoplasmic tail of sodium channel beta4 as a mechanism for resurgent sodium current. Neuron 45 (2005) 233-244
    • (2005) Neuron , vol.45 , pp. 233-244
    • Grieco, T.M.1    Malhotra, J.D.2    Chen, C.3    Isom, L.L.4    Raman, I.M.5
  • 34
    • 1642370591 scopus 로고    scopus 로고
    • Distinct subcellular localization of different sodium channel alpha and beta subunits in single ventricular myocytes from mouse heart
    • Maier S.K., Westenbroek R.E., McCormick K.A., Curtis R., Scheuer T., and Catterall W.A. Distinct subcellular localization of different sodium channel alpha and beta subunits in single ventricular myocytes from mouse heart. Circulation 109 (2004) 1421-1427
    • (2004) Circulation , vol.109 , pp. 1421-1427
    • Maier, S.K.1    Westenbroek, R.E.2    McCormick, K.A.3    Curtis, R.4    Scheuer, T.5    Catterall, W.A.6
  • 35
    • 77952668751 scopus 로고    scopus 로고
    • Spectrum and prevalence of mutations in the sodium channel macromolecular complex in SIDS
    • [abstract]
    • Van Norstrand D.W., Cheng J., Valdivia C.R., et al. Spectrum and prevalence of mutations in the sodium channel macromolecular complex in SIDS. Heart Rhythm 6 (2009) S86 [abstract]
    • (2009) Heart Rhythm , vol.6
    • Van Norstrand, D.W.1    Cheng, J.2    Valdivia, C.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.