GeneticsbioRxivPreprint
Multifocal Ectopic Purkinje Premature Contractions due to neutralization of an SCN5A negative charge: structural insights into the gating pore hypothesis
Andrew Michael Glazer, Tao Yang, Bian Li…·Dan M. Roden
The paper identifies a novel SCN5A variant, E171Q, that creates a gating pore current by neutralizing a negative charge in the S2 helix, leading to MEPPC and altered voltage dependence.
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