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Missense variant E1295K of sodium channel SCN5A associated with recurrent ventricular fibrillation and myocardial inflammation

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Item Type:Article
Title:Missense variant E1295K of sodium channel SCN5A associated with recurrent ventricular fibrillation and myocardial inflammation
Creators Name:Poller, W. and Escher, F. and Haas, J. and Heidecker, B. and Schultheiss, H.P. and Attanasio, P. and Skurk, C. and Haghikia, A. and Meder, B. and Klaassen, S.
Abstract:SCN5A was considered an exclusively cardiac expressed ion channel but discovered to also act as a novel innate immune sensor. We report on a young SCN5A variant carrier with recurrent ventricular fibrillation and massive myocardial inflammation whose peculiar clinical course is highly suggestive of such a dual role of SCN5A.
Keywords:Inflammation, Innate Immune, Response, Ion Channel Diseases, Ion Channel, Functions, Variant Screening
Source:JACC: Case Reports
ISSN:2666-0849
Publisher:Elsevier
Volume:4
Number:5
Page Range:280-286
Date:2 March 2022
Official Publication:http://doi.org/10.1016/j.jaccas.2022.01.016
PubMed:View item in PubMed

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