Channelopathies and heart disease

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Abstract

Channelopathies represent diseases caused by mutations in the genes encoding ion channels or associated proteins. With the advent of novel electrophysiology and molecular biology techniques, a wide variety of ion channels have been identified in different regions of the working myocardium or conduction system, and their biophysical and pharmacological properties, as well as involvement in different pathophysiology processes, are thoroughly characterized. This wealth of knowledge offers a better understanding of the intricate chemical and electrical events underlying a large class of rare heart diseases, most of them associated with arrhythmias, and also reveals novel mechanisms in the most frequent cardiovascular diseases and their complications. Within the present chapter we tackled the challenging task of presenting a comprehensive review of this rapidly expanding domain, with the hope of rendering relevant information for specialists with an interest in this highly exciting field of research.

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Amuzescu, B., Istrate, B., & Musat, S. (2013). Channelopathies and heart disease. In Cardiac Arrhythmias: From Basic Mechanism to State-of-the-Art Management (pp. 95–129). Springer-Verlag London Ltd. https://doi.org/10.1007/978-1-4471-5316-0_9

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