ASSOCIATION OF LOSS-OF-FUNCTION SCN5A INTRAGENIC DUPLICATION WITH EPILEPSY, VENTRICULAR TACHYCARDIA AND FIBRILLATION AND BRUGADA-LIKE SYNDROME

被引：0
|
作者：
Fiscella, D.
Marziliano, N.
Medoro, A.
Fiscella, A.
Longo, M.
Francese, G.
Folzani, S.
Reverberi, C.
Gulizia, M.
Intrieri, M.
机构：
[1] Osped Arnas Garibaldi Nesima Catania, Struttura Complessa Cardiol, Catania, Italy
[2] ASL Taranto, Clin Pathol Lab, Grottaglie, Italy
[3] Univ Molise, Dept Med & Hlth Sci V Tiberio, Campobasso, Italy
[4] Fdn Floresta Longo, Catania, Italy
[5] Poliambulatorio Citta Collecchio, Dept Imaging, Collecchio, Italy
[6] Poliambulatrio Gemini, Cardiol Dept, Parma, Italy
来源：
EUROPEAN HEART JOURNAL SUPPLEMENTS | 2020年 / 22卷 / 0G期
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：
C109
引用
收藏
页码：G43 / G44
页数：2
相关论文
共 50 条
  • [41] SEVERE LOSS-OF-FUNCTION SCN5A MUTATIONS ASSOCIATED WITH SINUS NODE DYSFUNCTION, ATRIAL ARRHYTHMIAS, AND POOR PACEMAKER CAPTURE
    Chiang, David
    Kim, Jeffrey
    Valdes, Santiago
    De La Uz, Caridad
    Fan, Yuxin
    Miyake, Christina
    [J]. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2015, 65 (10) : A533 - A533
  • [42] INA Loss-of-Function by Compound Variants in SCN5A from a Large Founder Population with Excess Sudden Cardiac Death
    Altrocchi, Cristina
    Spatjens, Roel R. L.
    Sutanto, Henry
    ter Bekke, Rachel M. A.
    Seyen, Sandrine
    Heijman, Jordi
    Moreno, Cristina
    Volders, Paul G. A.
    [J]. BIOPHYSICAL JOURNAL, 2018, 114 (03) : 635A - 635A
  • [43] Genetic Diversity of SCN5A Gene and Its Possible Association with the Concealed Form of Brugada Syndrome Development in Polish Group of Patients
    Uzieblo-Zyczkowska, Beata
    Gielerak, Grzegorz
    Siedlecki, Paweb
    Pajak, Beata
    [J]. BIOMED RESEARCH INTERNATIONAL, 2014, 2014
  • [44] SCN5A Mutants Associated with Familial Cardiac Sodium Overlap Syndrome Characterized as Sick Sinus Syndrome, Atrial Fibrillation, Brugada Syndrome, and Progressive Conduction Disease
    Lin, Yubi
    Deng, Chunyu
    Zhan, XianZhang
    Xu, Zhe
    Zhu, Jiening
    Chen, Jia
    Rao, Fang
    Yang, Hui
    Zhong, ZhiAn
    Liu, Yang
    Wang, Feng
    Li, Xin
    He, Siqi
    Feng, Ruiling
    Liao, Zili
    Deng, Hai
    Liao, Hongtao
    Wu, Yueheng
    Xue, Yumei
    Zhang, Bin
    Li, Guirong
    Cheng, Jianding
    Shan, Zhixin
    Wu, Shulin
    [J]. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2017, 70 (16) : C48 - C49
  • [45] Gene therapy using fragments of the SCN5A H558R polymorphism restores function of a brugada syndrome mutation
    Dudash, Lynn
    Poelzing, Steven
    Deschenes, Isabelle
    [J]. CIRCULATION, 2006, 114 (18) : 126 - 126
  • [46] Sick Sinus Syndrome, Progressive Cardiac Conduction Disease, Atrial Flutter and Ventricular Tachycardia Caused by a Novel SCN5A Mutation
    Holst, Anders G.
    Liang, Bo
    Jespersen, Thomas
    Bundgaard, Henning
    Haunso, Stig
    Svendsen, Jesper Hastrup
    Tfelt-Hansen, Jacob
    [J]. CARDIOLOGY, 2010, 115 (04) : 311 - 316
  • [47] Multiple Loss-of-Function Mechanisms Contribute to SCN5A-Related Familial Sick Sinus Syndrome
    Gui, Junhong
    Wang, Tao
    Jones, Richard P. O.
    Trump, Dorothy
    Zimmer, Thomas
    Lei, Ming
    [J]. PLOS ONE, 2010, 5 (06):
  • [48] A novel C-terminal truncation SCN5A mutation from a patient with sick sinus syndrome, conduction disorder and ventricular tachycardia
    Tan, Bi-Hua
    Iturralde-Torres, Pedro
    Medeiros-Domingo, Argelia
    Nava, Santiago
    Tester, David J.
    Valdivia, Cannen R.
    Tusie-Luna, Teresa
    Ackernian, Michael J.
    Makielski, Jonathan C.
    [J]. CARDIOVASCULAR RESEARCH, 2007, 76 (03) : 409 - 417
  • [49] Dynamic Change in ST-Segment and Spontaneous Occurrence of Ventricular Fibrillation in Brugada Syndrome With a Novel Nonsense Mutation in the SCN5A Gene During Long-Term Follow-up
    Kawamura, Mihoko
    Ozawa, Tomoya
    Yao, Takenori
    Ashihara, Takashi
    Sugimoto, Yoshihisa
    Yagi, Takafumi
    Itoh, Hideki
    Ito, Makoto
    Makiyama, Takeru
    Horie, Minoru
    [J]. CIRCULATION JOURNAL, 2009, 73 (03) : 584 - 588
  • [50] A recessive loss-of-function mutation in the SCN5A sodium channel gene underlies a severe cardiac conduction disease in a Russian-German family
    Neu, A.
    Eiselt, M.
    Weil, J.
    Breithardt, G.
    Pongs, O.
    Isbrandt, D.
    Schulze-Bahr, E.
    [J]. EUROPEAN JOURNAL OF PEDIATRICS, 2007, 166 (03) : 277 - 278
12345