Jump to ContentJump to Main Navigation
Show Summary Details
More options …

Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Greaves, Ronda / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter


IMPACT FACTOR 2018: 3.638

CiteScore 2018: 2.44

SCImago Journal Rank (SJR) 2018: 1.191
Source Normalized Impact per Paper (SNIP) 2018: 1.205

Online
ISSN
1437-4331
See all formats and pricing
More options …
Volume 41, Issue 4

Issues

Cardiac Sodium Channel Diseases

Carlo Napolitano / Ilaria Rivolta / Silvia G. Priori
Published Online: 2005-06-01 | DOI: https://doi.org/10.1515/CCLM.2003.066

Abstract

In the last few years, a very active line of research took place after the first identification of SCN5A mutations associated with an inherited form of cardiac arrhythmias and sudden death, the LQT3 variant of the long QT syndrome. Subsequently, two allelic diseases additional to LQT3 were shown to be due to mutations in the same gene, the Brugada syndrome (BrS) and the Lev-Lenegre syndrome (progressive cardiac conduction defect). Genotype-phenotype correlation and in vitro expression studies provide evidence that structure-function relationships of the SCN5A protein are much more complex than initially anticipated. The biophysical characterization of the sodium channel defects associated with different phenotypes and the genotype-phenotype correlation studies brought to the attention of the scientific community a plethora of mechanisms by which even a single amino acid substitution may remarkably affect cardiac excitability. Finally, the evidence of patients harboring an SCN5A mutation and overlapping clinical presentations creates a need for a revision of the traditional classification of the above mentioned diseases. It is now appropriate to consider the “sodium channel syndrome” as a unique clinical entity that may manifest itself with a spectrum of possible phenotypes.

About the article

Published Online: 2005-06-01

Published in Print: 2003-04-25


Citation Information: Clinical Chemistry and Laboratory Medicine, Volume 41, Issue 4, Pages 439–444, ISSN (Print) 1434-6621, DOI: https://doi.org/10.1515/CCLM.2003.066.

Export Citation

Citing Articles

Here you can find all Crossref-listed publications in which this article is cited. If you would like to receive automatic email messages as soon as this article is cited in other publications, simply activate the “Citation Alert” on the top of this page.

[1]
Michael J. Ackerman and Peter J. Mohler
Circulation Research, 2010, Volume 107, Number 4, Page 457
[2]
Michael Clerx, Jordi Heijman, Pieter Collins, and Paul G. A. Volders
Scientific Reports, 2018, Volume 8, Number 1
[3]
Stanley Nattel, Ange Maguy, Sabrina Le Bouter, and Yung-Hsin Yeh
Physiological Reviews, 2007, Volume 87, Number 2, Page 425
[4]
E. Herbert and M. Chahine
Canadian Journal of Physiology and Pharmacology, 2006, Volume 84, Number 8-9, Page 795
[5]
Karan R. Chadda, Shiraz Ahmad, Haseeb Valli, Ingrid den Uijl, Ali BAK Al-Hadithi, Samantha C. Salvage, Andrew A. Grace, Christopher L.-H. Huang, and Kamalan Jeevaratnam
Scientific Reports, 2017, Volume 7, Number 1
[6]
Michela Sala, Matteo Lazzaretti, Giulia De Vidovich, Edgardo Caverzasi, Francesco Barale, Giorgio d'Allio, and Paolo Brambilla
Therapeutic Advances in Cardiovascular Disease, 2009, Volume 3, Number 1, Page 29
[7]
Azra Fatima, Shao Kaifeng, Sven Dittmann, Guoxing Xu, Manoj K. Gupta, Matthias Linke, Ulrich Zechner, Filomain Nguemo, Hendrik Milting, Martin Farr, Jürgen Hescheler, Tomo Šarić, and Katriina Aalto-Setala
PLoS ONE, 2013, Volume 8, Number 12, Page e83005
[8]
Carsten Stoetzer, Bastian Papenberg, Thorben Doll, Marc Völker, Joerg Heineke, Marcus Stoetzer, Florian Wegner, and Andreas Leffler
European Journal of Pharmacology, 2016, Volume 783, Page 1
[9]
Daniela Malan, Miao Zhang, Birgit Stallmeyer, Jovanca Müller, Bernd K. Fleischmann, Eric Schulze-Bahr, Philipp Sasse, and Boris Greber
Basic Research in Cardiology, 2016, Volume 111, Number 2
[10]
Robin Lemmens, Sylvia Hermans, Dieter Nuyens, and Vincent Thijs
Stroke Research and Treatment, 2011, Volume 2011, Page 1
[11]
Hugues Abriel
Journal of Molecular and Cellular Cardiology, 2010, Volume 48, Number 1, Page 2
[12]
Andrés Ricardo Pérez Riera, Celso F. Filho, Augusto H. Uchida, Li Zhang, Charles Antzelevitch, Edgardo Schapachnik, Sergio Dubner, and Celso Ferreira
Annals of Noninvasive Electrocardiology, 2008, Volume 13, Number 4, Page 352
[13]
Paula L. Hedley, Poul Jørgensen, Sarah Schlamowitz, Romilda Wangari, Johanna Moolman-Smook, Paul A. Brink, Jørgen K. Kanters, Valerie A. Corfield, and Michael Christiansen
Human Mutation, 2009, Volume 30, Number 11, Page 1486
[14]
Martin Kruse, Eric Schulze-Bahr, Valerie Corfield, Alf Beckmann, Birgit Stallmeyer, Güven Kurtbay, Iris Ohmert, Ellen Schulze-Bahr, Paul Brink, and Olaf Pongs
Journal of Clinical Investigation, 2009, Volume 119, Number 9, Page 2737
[15]
SILVIA G. PRIORI and CARLO NAPOLITANO
Annals of the New York Academy of Sciences, 2004, Volume 1015, Number 1, Page 96
[16]
Yanfei Ruan, Nian Liu, and Silvia G. Priori
Nature Reviews Cardiology, 2009, Volume 6, Number 5, Page 337
[17]
Hideya Niimura, Akira Matsunaga, Koichiro Kumagai, Kazuo Ohwaki, Masahiro Ogawa, Hiroo Noguchi, Kazue Yonemura, and Keijiro Saku
Circulation Journal, 2004, Volume 68, Number 8, Page 740
[18]
PAIVI J. LAITINEN-FORSBLOM, PEKKA MAKYNEN, HEIKKI MAKYNEN, SINIKKA YLI-MAYRY, VESA VIRTANEN, KIMMO KONTULA, and KATRIINA AALTO-SETALA
Journal of Cardiovascular Electrophysiology, 2006, Volume 17, Number 5, Page 480
[19]
S. Rasche, T. Koch, and M. Hübler
Der Anaesthesist, 2006, Volume 55, Number 3, Page 229

Comments (0)

Please log in or register to comment.
Log in