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Literature DB >> 24300601

Nav 1.5 mutations linked to dilated cardiomyopathy phenotypes: Is the gating pore current the missing link?

Pascal Gosselin-Badaroudine¹, Adrien Moreau¹, Mohamed Chahine².

Abstract

Nav 1.5 dysfunctions are commonly linked to rhythms disturbances that include type 3 long QT syndrome (LQT3), Brugada syndrome (BrS), sick sinus syndrome (SSS) and conduction defects. Recently, this channel protein has been also linked to structural heart diseases such as dilated cardiomyopathy (DCM).

Entities: Disease Gene

Keywords: Nav1.5; arrhythmias; dilated cardiomyopathy; gating pore; heart; sodium channels; structural model

Mesh：

Substances：

Year: 2013 PMID： 24300601 PMCID： PMC4048347 DOI： 10.4161/chan.27179

Source DB: PubMed Journal: Channels (Austin) ISSN： 1933-6950 Impact factor: 2.581

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6. Novel SCN5A p.V1429M Variant Segregation in a Family with Brugada Syndrome.

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10. Mutations in the Voltage Sensors of Domains I and II of Nav1.5 that are Associated with Arrhythmias and Dilated Cardiomyopathy Generate Gating Pore Currents.

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