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Volumn 3 APR, Issue , 2012, Pages

Prevalence of significant genetic variants in congenital long QT syndrome is largely underestimated

Author keywords

[No Author keywords available]

Indexed keywords

ION CHANNEL; ION CHANNEL REGULATORY PROTEIN; POTASSIUM CHANNEL KCNQ1; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

EID: 84866039750     PISSN: None     EISSN: 16639812     Source Type: Journal    
DOI: 10.3389/fphar.2012.00072     Document Type: Article
Times cited : (13)

References (25)
  • 2
    • 0037423552 scopus 로고    scopus 로고
    • Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system
    • Bezzina, C. R., Rook, M. B., Groenewegen, W. A., Herfst, L. J., van der Wal, A. C., Lam, J., Jongsma, H. J., Wilde, A. A., and Mannens, M. M. (2003). Compound heterozygosity for mutations (W156X and R225W) in SCN5A associated with severe cardiac conduction disturbances and degenerative changes in the conduction system. Circ. Res. 92, 159-168.
    • (2003) Circ. Res. , vol.92 , pp. 159-168
    • Bezzina, C.R.1    Rook, M.B.2    Groenewegen, W.A.3    Herfst, L.J.4    van der Wal, A.C.5    Lam, J.6    Jongsma, H.J.7    Wilde, A.A.8    Mannens, M.M.9
  • 4
    • 33947528431 scopus 로고    scopus 로고
    • Role of implantable cardioverter defibrillator therapy in patients with long QT syndrome
    • Daubert, J. P., Zareba, W., Rosero, S. Z., Budzikowski, A., Robinson, J. L., and Moss, A. J. (2007). Role of implantable cardioverter defibrillator therapy in patients with long QT syndrome. Am. Heart J. 153(Suppl.), 53-58.
    • (2007) Am. Heart J. , vol.153 , Issue.SUPPL. , pp. 53-58
    • Daubert, J.P.1    Zareba, W.2    Rosero, S.Z.3    Budzikowski, A.4    Robinson, J.L.5    Moss, A.J.6
  • 5
  • 9
    • 68949209933 scopus 로고    scopus 로고
    • Spectrum and prevalence of mutations from the first 2 500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test
    • Kapplinger, J. D., Tester, D. J., Salisbury, B. A., Carr, J. L., Harris-Kerr, C., Pollevick, G. D., Wilde, K. K., and Ackerman, M. J. (2009). Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm 6, 1297-1303.
    • (2009) Heart Rhythm , vol.6 , pp. 1297-1303
    • Kapplinger, J.D.1    Tester, D.J.2    Salisbury, B.A.3    Carr, J.L.4    Harris-Kerr, C.5    Pollevick, G.D.6    Wilde, K.K.7    Ackerman, M.J.8
  • 13
    • 0033514263 scopus 로고    scopus 로고
    • Low penetrance in the long-QT syndrome: clinical impact
    • Priori, S., Napolitano, C., and Schwartz, P. (1999). Low penetrance in the long-QT syndrome: clinical impact. Circulation 99, 529-533.
    • (1999) Circulation , vol.99 , pp. 529-533
    • Priori, S.1    Napolitano, C.2    Schwartz, P.3
  • 14
    • 70349468244 scopus 로고    scopus 로고
    • Genetics of cardiac arrhythmias
    • 8th Edn, eds P. Libby, R. O. Bonow,D. L. Mann, and D. P. Zipes (Philadelphia: Saunders Elsevier)
    • Priori, S., Napolitano, C., and Schwartz, P. (2008). "Genetics of cardiac arrhythmias," in Braunwald's Heart Disease, 8th Edn, eds P. Libby, R. O. Bonow,D. L. Mann, and D. P. Zipes (Philadelphia: Saunders Elsevier), 101-110.
    • (2008) Braunwald's Heart Disease , pp. 101-110
    • Priori, S.1    Napolitano, C.2    Schwartz, P.3
  • 15
    • 84864144507 scopus 로고    scopus 로고
    • High prevalence of genetic variants previously associated with LQT syndrome in new exome data
    • PMID: 22378279. [Epub ahead of print]
    • Refsgaard, L., Holst, A., Sadijadieh, G., Haunsø, S., Nielsen, J., and Olesen, M. (2012). High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur. J. Hum. Genet. PMID: 22378279. [Epub ahead of print].
    • (2012) Eur. J. Hum. Genet.
    • Refsgaard, L.1    Holst, A.2    Sadijadieh, G.3    Haunsø, S.4    Nielsen, J.5    Olesen, M.6
  • 16
    • 33750045981 scopus 로고    scopus 로고
    • Risk-stratifying Jervell and Lange-Nielsen syndrome from clinical data
    • Richter, S., and Brugada, P. (2006). Risk-stratifying Jervell and Lange-Nielsen syndrome from clinical data. J. Cardiovasc. Electrophysiol. 17, 1169-1171.
    • (2006) J. Cardiovasc. Electrophysiol. , vol.17 , pp. 1169-1171
    • Richter, S.1    Brugada, P.2
  • 17
    • 0033378863 scopus 로고    scopus 로고
    • Inherited long QT syndromes: a paradigm for understanding arrhythmogenesis
    • Roden, D. M., and Spooner, P. M. (1999). Inherited long QT syndromes: a paradigm for understanding arrhythmogenesis. J. Cardiovasc. Electrophysiol. 10, 1664-1683.
    • (1999) J. Cardiovasc. Electrophysiol. , vol.10 , pp. 1664-1683
    • Roden, D.M.1    Spooner, P.M.2
  • 22
    • 33745572947 scopus 로고    scopus 로고
    • Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results
    • Tester, D. J., Cronk, L. B, Carr, J. L., Schulz, V., Salisbury, B. A., Judson, R. S., and Ackerman, M. J. (2006). Allelic dropout in long QT syndrome genetic testing: a possible mechanism underlying false-negative results. Heart Rhythm 3, 815-821.
    • (2006) Heart Rhythm , vol.3 , pp. 815-821
    • Tester, D.J.1    Cronk, L.B.2    Carr, J.L.3    Schulz, V.4    Salisbury, B.A.5    Judson, R.S.6    Ackerman, M.J.7
  • 24
    • 58749096216 scopus 로고    scopus 로고
    • Congenital long-QT syndromes: a clinical and genetic update from infancy through adulthood
    • Webster, G., and Berul, C. I. (2008). Congenital long-QT syndromes: a clinical and genetic update from infancy through adulthood. Trends Cardiovasc. Med. 18, 216-224.
    • (2008) Trends Cardiovasc. Med. , vol.18 , pp. 216-224
    • Webster, G.1    Berul, C.I.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.