메뉴 건너뛰기




Volumn 64, Issue 2, 2004, Pages 268-278

A novel SCN5A mutation manifests as a malignant form of long QT syndrome with perinatal onset of tachycardia/bradycardia

Author keywords

Atrioventricular block; Congenital long QT syndrome; Fetus; Nav1.5; Newborn; SCN5A; Sodium channels

Indexed keywords

LIDOCAINE; METHIONINE; MEXILETINE; SODIUM CHANNEL; TETRODOTOXIN; VALINE;

EID: 5444259262     PISSN: 00086363     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.cardiores.2004.07.007     Document Type: Article
Times cited : (64)

References (32)
  • 1
    • 0035830365 scopus 로고    scopus 로고
    • Genotype-phenotype correlation in the long-QT syndrome: Gene-specific triggers for life-threatening arrhythmias
    • P.J. Schwartz, S.G. Priori, and C. Spazzolini Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias Circulation 103 2001 89 95
    • (2001) Circulation , vol.103 , pp. 89-95
    • Schwartz, P.J.1    Priori, S.G.2    Spazzolini, C.3
  • 3
    • 0242464931 scopus 로고    scopus 로고
    • Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death
    • P.J. Mohler, J.J. Jean-Jacques Schott, and A.O. Gramolini Ankyrin-B mutation causes type 4 long-QT cardiac arrhythmia and sudden cardiac death Nature 421 2003 634 639
    • (2003) Nature , vol.421 , pp. 634-639
    • Mohler, P.J.1    Jean-Jacques Schott, J.J.2    Gramolini, A.O.3
  • 4
    • 0032845034 scopus 로고    scopus 로고
    • A variant of long QT syndrome manifested and fetal tachycardia and associated with ventricular septal defect
    • M.H. Wu, F.J. Hsieh, J.K. Wang, and M.L. Kau A variant of long QT syndrome manifested and fetal tachycardia and associated with ventricular septal defect Heart 82 1999 386 388
    • (1999) Heart , vol.82 , pp. 386-388
    • Wu, M.H.1    Hsieh, F.J.2    Wang, J.K.3    Kau, M.L.4
  • 5
    • 0030935954 scopus 로고    scopus 로고
    • Prenatal findings in patients with prolonged QT interval in the neonatal period
    • M. Hofbeck, H. Ulmer, E. Beinder, E. Sieber, and H. Singer Prenatal findings in patients with prolonged QT interval in the neonatal period Heart 77 1997 198 204
    • (1997) Heart , vol.77 , pp. 198-204
    • Hofbeck, M.1    Ulmer, H.2    Beinder, E.3    Sieber, E.4    Singer, H.5
  • 6
    • 10744225310 scopus 로고    scopus 로고
    • Long QT syndrome in neonates: Conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations
    • J.M. Lupoglazoff, and I. Isabelle Denjoy Long QT syndrome in neonates: conduction disorders associated with HERG mutations and sinus bradycardia with KCNQ1 mutations J. Am. Coll. Cardiol. 43 2004 826 830
    • (2004) J. Am. Coll. Cardiol. , vol.43 , pp. 826-830
    • Lupoglazoff, J.M.1    Isabelle Denjoy, I.2
  • 7
    • 0028905566 scopus 로고
    • SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome
    • Q. Wang, J. Shen, and I. Splawski SCN5A mutations associated with an inherited cardiac arrhythmia, long QT syndrome Cell 80 1995 1 20
    • (1995) Cell , vol.80 , pp. 1-20
    • Wang, Q.1    Shen, J.2    Splawski, I.3
  • 8
    • 0027360771 scopus 로고
    • Panning transfected cells for electrophysiological studies
    • R.F. Margolskee, B. McHendry-Rinde, and R. Horn Panning transfected cells for electrophysiological studies BioTechniques 15 1993 906 911
    • (1993) BioTechniques , vol.15 , pp. 906-911
    • Margolskee, R.F.1    McHendry-Rinde, B.2    Horn, R.3
  • 9
    • 0027970398 scopus 로고
    • Visual identification of individual transfected cells for electrophysiology using antibody-coated beads
    • M.E. Jurman, L.M. Boland, Y. Liu, and G. Yellen Visual identification of individual transfected cells for electrophysiology using antibody-coated beads BioTechniques 17 1994 876 881
    • (1994) BioTechniques , vol.17 , pp. 876-881
    • Jurman, M.E.1    Boland, L.M.2    Liu, Y.3    Yellen, G.4
  • 10
    • 0019441262 scopus 로고
    • Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches
    • O.P. Hamill, A. Marty, E. Neher, B. Sakmann, and F.J. Sigworth Improved patch-clamp techniques for high-resolution current recording from cells and cell-free membrane patches Pflügers Arch. 391 1981 85 100
    • (1981) Pflügers Arch. , vol.391 , pp. 85-100
    • Hamill, O.P.1    Marty, A.2    Neher, E.3    Sakmann, B.4    Sigworth, F.J.5
  • 11
    • 0034027743 scopus 로고    scopus 로고
    • Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population
    • H. Iwasa, T. Itoh, R. Nagai, Y. Nakamura, and T. Tanaka Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population J. Hum. Genet. 45 2000 182 183
    • (2000) J. Hum. Genet. , vol.45 , pp. 182-183
    • Iwasa, H.1    Itoh, T.2    Nagai, R.3    Nakamura, Y.4    Tanaka, T.5
  • 12
    • 0033615466 scopus 로고    scopus 로고
    • Sodium channel abnormalities are infrequent in patients with long QT syndrome: Identification of two novel SCN5A mutations
    • D. Wattanasirichaigoon, M.R. Vesely, and P. Duggal Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations Am. J. Med. Genet. 86 1999 470 476
    • (1999) Am. J. Med. Genet. , vol.86 , pp. 470-476
    • Wattanasirichaigoon, D.1    Vesely, M.R.2    Duggal, P.3
  • 13
    • 0347951001 scopus 로고    scopus 로고
    • Long QT syndrome and life-threatening arrhythmia in a newborn: Molecular diagnosis and treatment response
    • E. Schulze-Bahr, H. Fenge, and D. Etzrodt Long QT syndrome and life-threatening arrhythmia in a newborn: molecular diagnosis and treatment response Heart 90 2004 13 16
    • (2004) Heart , vol.90 , pp. 13-16
    • Schulze-Bahr, E.1    Fenge, H.2    Etzrodt, D.3
  • 14
    • 1542722281 scopus 로고    scopus 로고
    • Prenatal molecular genetic diagnosis of congenital long QT syndrome by strategic genotyping
    • D.J. Tester, J. McCormack, and M.J. Ackerman Prenatal molecular genetic diagnosis of congenital long QT syndrome by strategic genotyping Am. J. Cardiol. 93 2004 788 791
    • (2004) Am. J. Cardiol. , vol.93 , pp. 788-791
    • Tester, D.J.1    McCormack, J.2    Ackerman, M.J.3
  • 15
    • 0242515866 scopus 로고    scopus 로고
    • M. Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome
    • W.H. Johnson Jr., Y. Ping, and Y. Tao M. Clinical, genetic, and biophysical characterization of a homozygous HERG mutation causing severe neonatal long QT syndrome Pediatr. Res. 53 2003 744 748
    • (2003) Pediatr. Res. , vol.53 , pp. 744-748
    • Johnson Jr., W.H.1    Ping, Y.2    Tao, Y.3
  • 16
    • 0030819433 scopus 로고    scopus 로고
    • Sodium channel block with mexiletine is effective in reducing dispersion of repolarization and preventing torsade des pointes in LQT2 and LQT3 models of the long-QT syndrome
    • W. Shimizu, and C. Antzelevitch Sodium channel block with mexiletine is effective in reducing dispersion of repolarization and preventing torsade des pointes in LQT2 and LQT3 models of the long-QT syndrome Circulation 96 1997 2038 2047
    • (1997) Circulation , vol.96 , pp. 2038-2047
    • Shimizu, W.1    Antzelevitch, C.2
  • 17
    • 0034622604 scopus 로고    scopus 로고
    • (+) channel opener to reduce transmural dispersion of repolarization and prevent torsade de pointes in LQT1, LQT2, and LQT3 models of the long-QT syndrome
    • (+) channel opener to reduce transmural dispersion of repolarization and prevent torsade de pointes in LQT1, LQT2, and LQT3 models of the long-QT syndrome Circulation 102 2000 706 712
    • (2000) Circulation , vol.102 , pp. 706-712
    • Shimizu, W.1    Antzelevitch, C.2
  • 18
    • 0028874658 scopus 로고
    • + channel blockade and to increases in heart rate: Implications for gene-specific therapy
    • + channel blockade and to increases in heart rate: implications for gene-specific therapy Circulation 92 1995 3381 3386
    • (1995) Circulation , vol.92 , pp. 3381-3386
    • Schwartz, P.J.1    Priori, S.G.2    Locati, E.H.3
  • 20
    • 0018579888 scopus 로고
    • Paediatric use of mexiletine and disopyramide
    • D.W. Holt, A.C. Walsh, P.V. Curry, and M. Tynan Paediatric use of mexiletine and disopyramide Br. Med. J. 2 1979 1476 1477
    • (1979) Br. Med. J. , vol.2 , pp. 1476-1477
    • Holt, D.W.1    Walsh, A.C.2    Curry, P.V.3    Tynan, M.4
  • 22
    • 0344493809 scopus 로고    scopus 로고
    • A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: Role of Q1507 residue in sodium channel inactivation
    • D.I. Keller, S. Acharfi, and E. Delacrétaz A novel mutation in SCN5A, delQKP 1507-1509, causing long QT syndrome: role of Q1507 residue in sodium channel inactivation J. Mol. Cell. Cardiol. 35 2003 1513 1521
    • (2003) J. Mol. Cell. Cardiol. , vol.35 , pp. 1513-1521
    • Keller, D.I.1    Acharfi, S.2    Delacrétaz, E.3
  • 23
    • 0343819791 scopus 로고    scopus 로고
    • Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes
    • I. Deschenes, G. Baroudi, and M. Berthet Electrophysiological characterization of SCN5A mutations causing long QT (E1784K) and Brugada (R1512W and R1432G) syndromes Cardiovasc. Res. 46 2000 55 65
    • (2000) Cardiovasc. Res. , vol.46 , pp. 55-65
    • Deschenes, I.1    Baroudi, G.2    Berthet, M.3
  • 24
    • 0034163543 scopus 로고    scopus 로고
    • Differential effects of beta-adrenergic agonists and antagonists in LQT1, LQT2 and LQT3 models of the long QT syndrome
    • W. Shimizu, and C. Antzelevitch Differential effects of beta-adrenergic agonists and antagonists in LQT1, LQT2 and LQT3 models of the long QT syndrome J. Am. Coll. Cardiol. 35 2000 778 786
    • (2000) J. Am. Coll. Cardiol. , vol.35 , pp. 778-786
    • Shimizu, W.1    Antzelevitch, C.2
  • 25
    • 0033968880 scopus 로고    scopus 로고
    • SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells
    • G. Baroudi, E. Carbonneau, V. Pouliot, and M. Chahine SCN5A mutation (T1620M) causing Brugada syndrome exhibits different phenotypes when expressed in Xenopus oocytes and mammalian cells FEBS Lett. 467 2000 12 16
    • (2000) FEBS Lett. , vol.467 , pp. 12-16
    • Baroudi, G.1    Carbonneau, E.2    Pouliot, V.3    Chahine, M.4
  • 29
    • 0036063688 scopus 로고    scopus 로고
    • A novel SCN5A arrhythmia mutation, M1677L, with expression defect rescued by mexiletine
    • C.R. Valdivia, M.J. Ackerman, and D.J. Tester A novel SCN5A arrhythmia mutation, M1677L, with expression defect rescued by mexiletine Cardiovasc. Res. 55 2002 279 289
    • (2002) Cardiovasc. Res. , vol.55 , pp. 279-289
    • Valdivia, C.R.1    Ackerman, M.J.2    Tester, D.J.3
  • 30
    • 0345039873 scopus 로고    scopus 로고
    • A novel LQT3 mutation implicates the human sodium channel domain IVS6 in inactivation kinetics
    • W.A. Groenewegen, C.R. Bezzina, and J.P. van Tintelen A novel LQT3 mutation implicates the human sodium channel domain IVS6 in inactivation kinetics Cardiovasc. Res. 57 2003 1072 1078
    • (2003) Cardiovasc. Res. , vol.57 , pp. 1072-1078
    • Groenewegen, W.A.1    Bezzina, C.R.2    Van Tintelen, J.P.3
  • 31
    • 0027999877 scopus 로고
    • A mutation in segment IVS6 disrupts fast inactivation of sodium channels
    • J.C. McPhee, D.S. Ragsdale, and T. Scheuer A mutation in segment IVS6 disrupts fast inactivation of sodium channels Proc. Natl. Acad. Sci. U. S. A. 91 1994 12346 12350
    • (1994) Proc. Natl. Acad. Sci. U. S. A. , vol.91 , pp. 12346-12350
    • McPhee, J.C.1    Ragsdale, D.S.2    Scheuer, T.3
  • 32
    • 0029556999 scopus 로고
    • Molecular determinants of drug access to the receptor site for antiarrhythmic drugs in the cardiac Na channel
    • Y. Ou, J. Rogers, T. Tanada, T. Scheuer, and W.A. Catterall Molecular determinants of drug access to the receptor site for antiarrhythmic drugs in the cardiac Na channel Proc. Natl. Acad. Sci. U. S. A. 92 1995 11839 11843
    • (1995) Proc. Natl. Acad. Sci. U. S. A. , vol.92 , pp. 11839-11843
    • Ou, Y.1    Rogers, J.2    Tanada, T.3    Scheuer, T.4    Catterall, W.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.