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
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
  • [31] Relationship between sodium channel function and clinical phenotype in SCN5A variants associated with Brugada syndrome
    Pearman, Charles M.
    Denham, Nathan C.
    Mills, Robert W.
    Ding, Wern Y.
    Modi, Simon S.
    Hall, Mark C. S.
    Todd, Derick M.
    Mahida, Saagar
    [J]. HUMAN MUTATION, 2020, 41 (12) : 2195 - 2204
  • [32] Two novel SCN5A loss-of-function mutations affect patients with severe arrhytmogenic syndromes.
    Murano, C.
    Binda, A.
    Lucano, D.
    Micaglio, E.
    Ciconte, G.
    Ghiroldi, A.
    Anastasia, L.
    Pappone, C.
    Rivolta, I
    [J]. ACTA PHYSIOLOGICA, 2019, 227 : 142 - 142
  • [33] Gain-of-function mutation in SCN5A causes ventricular arrhythmias and early onset atrial fibrillation
    Lieve, Krystien V.
    Verkerk, Arie O.
    Podliesna, Svitlana
    van der Werf, Christian
    Tanck, Michael W.
    Hofman, Nynke
    van Bergen, Paul F.
    Beekman, Leander
    Bezzina, Connie R.
    Wilde, Arthur A. M.
    Lodder, Elisabeth M.
    [J]. INTERNATIONAL JOURNAL OF CARDIOLOGY, 2017, 236 : 187 - 193
  • [34] 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.
    [J]. HEART RHYTHM, 2009, 6 (03) : 341 - 348
  • [35] GENETIC VARIANTS IN SCN5A PROMOTER PREDICT ARRHYTHMIA PHENOTYPE SEVERITY IN PATIENTS WITH HETEROZYGOUS LOSS-OF-FUNCTION MUTATIONS
    Park, Ji Kwon
    Martin, Lisa
    Zhang, Xue
    Jegga, Anil
    Benson, D. Woodrow
    [J]. JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY, 2012, 59 (13) : E721 - E721
  • [36] Genetic variants in SCN5A promoter are associated with arrhythmia phenotype severity in patients with heterozygous loss-of-function mutation
    Park, Ji Kwon
    Martin, Lisa J.
    Zhang, Xue
    Jegga, Anil G.
    Benson, D. Woodrow
    [J]. HEART RHYTHM, 2012, 9 (07) : 1090 - 1096
  • [37] A Novel SCN5A Variant Causes Temperature-Sensitive Loss Of Function in a Family with Symptomatic Brugada Syndrome, Cardiac Conduction Disease, and Sick Sinus Syndrome
    Sanner, Karolina
    Mueller-Leisse, Johanna
    Zormpas, Christos
    Duncker, David
    Leffler, Andreas
    Veltmann, Christian
    [J]. CARDIOLOGY, 2021, 146 (06) : 754 - 762
  • [38] Loss-of-Function SCN5A Mutations Associated With Sinus Node Dysfunction, Atrial Arrhythmias, and Poor Pacemaker Capture
    Chiang, David Y.
    Kim, Jeffrey J.
    Valdes, Santiago O.
    de la Uz, Caridad
    Fan, Yuxin
    Orcutt, Jeffrey
    Domino, Melissa
    Smith, Melissa
    Wehrens, Xander H. T.
    Miyake, Christina Y.
    [J]. CIRCULATION-ARRHYTHMIA AND ELECTROPHYSIOLOGY, 2015, 8 (05): : 1105 - 1112
  • [39] The association of two benign polymorphisms H558R and Q1077 on SCN5A gene leads to a loss of Na+ channel function and cause Brugada syndrome
    Acharfi, S
    Barrane, F
    Champagne, J
    Chahine, M
    [J]. EUROPEAN HEART JOURNAL, 2004, 25 : 141 - 141
  • [40] Does function trump bioinformatics in Brugada syndrome-associated SCN5A mutation calling? Patients, computers, and patches
    Wilde, Arthur A. M.
    Wu, Cheng-I
    [J]. EUROPEAN HEART JOURNAL, 2021, 42 (29) : 2864 - +