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

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 Syndrom...

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Auteurs principaux: Semino, Francesca (Auteur) , Darche, Fabrice Fernand (Auteur) , Bruehl, Claus (Auteur) , Koenen, Michael (Auteur) , Skladny, Heyko (Auteur) , Katus, Hugo (Auteur) , Frey, Norbert (Auteur) , Draguhn, Andreas (Auteur) , Schweizer, Patrick Alexander (Auteur)
Format: Article (Journal)
Langue:anglais
Publié: 2024
In: Pflügers Archiv
Year: 2024, Volume: 476, Numéro: 2, Pages: 229-242
ISSN:1432-2013
DOI:10.1007/s00424-023-02882-0
Accès en ligne:Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s00424-023-02882-0
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Notes sur l'auteur:Francesca Semino, Fabrice F. Darche, Claus Bruehl, Michael Koenen, Heyko Skladny, Hugo A. Katus, Norbert Frey, Andreas Draguhn, Patrick A. Schweizer
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Résumé: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 basis.
Description:Online veröffentlicht: 1 December 2023
Gesehen am 18.01.2024
Description matérielle:Online Resource
ISSN:1432-2013
DOI:10.1007/s00424-023-02882-0

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