Location of SCN5A mutation determines severity of phenotype and response to sodium channel blockage

被引:0
|
作者
Reckman, Y. J. K. [1 ]
Arbelo, E. [2 ]
Alders, M. [3 ]
Van Spaendonck-Zwarts, K. Y. [3 ]
Pinto, Y. M. [1 ]
Wilde, A. A. M. [1 ]
Amin, A. S. [1 ]
Tan, H. L. [1 ]
机构
[1] Acad Med Ctr Amsterdam, Dept Clin & Expt Cardiol, Amsterdam, Netherlands
[2] Hosp Clin Barcelona, Dept Cardiol, Thorax Inst, Barcelona, Spain
[3] Acad Med Ctr Amsterdam, Dept Clin Genet, Amsterdam, Netherlands
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
1132
引用
收藏
页码:206 / 207
页数:2
相关论文
共 50 条
  • [1] Diversity in cardiac sodium channel disease phenotype in transgenic mice carrying a single SCN5A mutation
    Remme, C. A.
    Verkerk, A. O.
    Wilde, A. A. M.
    Veldkamp, M. W.
    de Bakker, J. M. T.
    Bezzina, C. R.
    NETHERLANDS HEART JOURNAL, 2007, 15 (06) : 235 - 238
  • [2] Diversity in cardiac sodium channel disease phenotype in transgenic mice carrying a single SCN5A mutation
    C. A. Remme
    A. O. Verkerk
    A. A. M. Wilde
    M. W. Veldkamp
    J. M. T. de Bakker
    C. R. Bezzina
    Netherlands Heart Journal, 2007, 15 : 235 - 238
  • [3] Type of SCN5A mutation determines clinical severity and degree of conduction slowing in loss-of-function sodium channelopathies
    Meregalli, Paola G.
    Tan, Hanno L.
    Probst, Vincent
    Koopmann, Tamara T.
    Tanck, Michael W.
    Bhuiyan, Zahurul A.
    Sacher, Frederic
    Kyndt, Florence
    Schott, Jean-Jacques
    Albuisson, J.
    Mabo, Philippe
    Bezzina, Connie R.
    Le Marec, Herve
    Wilde, Arthur A. M.
    HEART RHYTHM, 2009, 6 (03) : 341 - 348
  • [4] SCN5A Mutation Type and a Genetic Risk Score Associate Variably With Brugada Syndrome Phenotype in SCN5A Families
    Wijeyeratne, Yanushi D.
    Tanck, Michael W.
    Mizusawa, Yuka
    Batchvarov, Velislav
    Barc, Julien
    Crotti, Lia
    Bos, J. Martijn
    Tester, David J.
    Muir, Alison
    Veltmann, Christian
    Ohno, Seiko
    Page, Stephen P.
    Galvin, Joseph
    Tadros, Rafik
    Muggenthaler, Martina
    Raju, Hariharan
    Denjoy, Isabelle
    Schott, Jean-Jacques
    Gourraud, Jean-Baptiste
    Skoric-Milosavljevic, Doris
    Nannenberg, Eline A.
    Redon, Richard
    Papadakis, Michael
    Kyndt, Florence
    Dagradi, Federica
    Castelletti, Silvia
    Torchio, Margherita
    Meitinger, Thomas
    Lichtner, Peter
    Ishikawa, Taisuke
    Wilde, Arthur A. M.
    Takahashi, Kazuhiro
    Sharma, Sanjay
    Roden, Dan M.
    Borggrefe, Martin M.
    McKeown, Pascal P.
    Shimizu, Wataru
    Horie, Minoru
    Makita, Naomasa
    Aiba, Takeshi
    Ackerman, Michael J.
    Schwartz, Peter J.
    Probst, Vincent
    Bezzina, Connie R.
    Behr, Elijah R.
    CIRCULATION-GENOMIC AND PRECISION MEDICINE, 2020, 13 (06): : 599 - 608
  • [5] SCN5A mutation type and topology are associated with the risk of ventricular arrhythmia by sodium channel blockers
    Amin, Ahmad S.
    Reckman, Yolan J.
    Arbelo, Elena
    Spanjaart, Anne M.
    Postema, Pieter G.
    Tadros, Rafik
    Tanck, Michael W.
    Van den Berg, Maarten P.
    Wilde, Arthur A. M.
    Tan, Hanno L.
    INTERNATIONAL JOURNAL OF CARDIOLOGY, 2018, 266 : 128 - 132
  • [6] Usefulness of sodium channel blocker (pilsicainide) test in patients of Brugada syndrome with SCN5A mutation
    Watanabe, A
    Kusano, KF
    Miura, D
    Miura, A
    Sumita, W
    Taniyama, M
    Kimura, H
    Iwasaki, J
    Urakawa, S
    Kobayashi, K
    Hiramatsu, S
    Murakami, S
    Nishii, N
    Banba, K
    Hosogi, S
    Nagase, S
    Nakamura, K
    Morita, H
    Saitoh, H
    Ohe, T
    CIRCULATION, 2005, 112 (17) : U431 - U431
  • [7] Reduced voltage dependence of inactivation in the SCN5A sodium channel mutation delF1617
    Chen, TH
    Inoue, M
    Sheets, MF
    AMERICAN JOURNAL OF PHYSIOLOGY-HEART AND CIRCULATORY PHYSIOLOGY, 2005, 288 (06): : H2666 - H2676
  • [8] Microvolt T wave alternans in LQTS patients with the SCN5A sodium channel gene mutation
    Burattini, L
    Zareba, W
    Konecki, J
    Moss, AJ
    CIRCULATION, 1998, 98 (17) : 457 - 457
  • [9] Phenotype severity in mice carrying the sodium channel mutation SCN5A-1798insD depends on genetic background
    Remme, C. A.
    Engelen, M. A.
    Scicluna, B.
    Van Brunschot, S.
    Wilde, A. A. M.
    De Bakker, J. M. T.
    Veldkamp, M. W.
    Bezzina, C. R.
    EUROPEAN HEART JOURNAL, 2007, 28 : 740 - 740
  • [10] Ethnicity and phenotype in the SCN5A E1784K mutation
    Wijeyeratne, Y.
    Probst, V.
    Veltmann, C.
    Shimizu, W.
    Crotti, L.
    Horie, M.
    Mckeown, P.
    Makita, N.
    Roden, D.
    Behr, E. R.
    EUROPEAN HEART JOURNAL, 2014, 35 : 260 - 261