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Multifocal Ectopic Purkinje Premature Contractions due to neutralization of an <i>SCN5A</i> negative charge: structural insights into the gating pore hypothesis

2024-02-16

Abstract excerpt

<h4>Background</h4> We identified a novel SCN5A variant, E171Q, in a neonate with very frequent ectopy and reduced ejection fraction which normalized after arrhythmia suppression by flecainide. This clinical picture is consistent with multifocal ectopic Purkinje-related premature contractions (MEPPC). Most previous reports of MEPPC have implicated SCN5A variants such as R222Q that neutralize positive charges in...

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Literature Corpus work
fd2cb9fd-4ba2-56ac-9fc7-23f1340d48c2
DOI
10.1101/2024.02.13.580021
Open publication

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Multifocal Ectopic Purkinje Premature Contractions due to neutralization of an <i>SCN5A</i> negative charge: structural insights into the gating pore hypothesisDOI 10.1101/2024.02.13.580021
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