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., Escher, F., Haas, J., Heidecker, B., Schultheiss, H.P., Attanasio, P., Skurk, C., Haghikia, A., 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:	https://doi.org/10.1016/j.jaccas.2022.01.016
PubMed:	View item in PubMed

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