Genetics of ion-channel disorders

Marina Cerrone, Carlo Napolitano, Silvia G. Priori

Research output: Contribution to journalArticlepeer-review

Abstract

Purpose of Review: In this article, we summarize the main features of the most common inherited channelopathies, focusing on the findings that advanced the field in the last few years. Recent Findings: The progress in genetics prompted the discovery of several new genes associated with ion-channel disorders, elucidating new molecular pathways and new arrhythmogenic mechanisms. The diffusion and availability of genetic screening gave a new relevance to the application of genetics not only for diagnosis, but also for risk assessment and therapeutic decisions. As a consequence, the present challenge in the field is represented by the need to use genetic data to develop personalized clinical approaches. Summary: Over a few years, the field of inherited arrhythmogenic diseases has rapidly expanded, thus reshaping clinical management for these conditions. It is now clear that to handle these patients a specialized expertise is needed, able to translate the discoveries derived from basic science studies into the clinical care of the patients.

Original languageEnglish
Pages (from-to)242-252
Number of pages11
JournalCurrent Opinion in Cardiology
Volume27
Issue number3
DOIs
Publication statusPublished - May 2012

Keywords

  • Brugada syndrome
  • genetics
  • ion channels
  • QT interval
  • sudden death

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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