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Article

GPD1L-A306del modifies sodium current in a family carrying the dysfunctional SCN5A-G1661R mutation associated with Brugada syndrome.

Pflugers Archiv : European journal of physiology - 1 Feb 2024

Semino Francesca, Darche Fabrice F, Bruehl Claus, Koenen Michael, Skladny Heyko, Katus Hugo A, Frey Norbert, Draguhn Andreas, Schweizer Patrick A

Abstract excerpt

Loss-of-function variants of SCN5A, encoding the sodium channel alpha subunit Nav1.5 are associated with high phenotypic variability and multiple cardiac presentations, while underlying mechanisms are incompletely understood. Here we investigated a family with individuals affected by Brugada Syndrome (BrS) of different severity and aimed to unravel the underlying genetic and electrophysiological...

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Identifiers

PMID: 38036776
DOI: 10.1007/s00424-023-02882-0
PMCID: PMC10791828

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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