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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| Hauptverfasser: | , , , , , , , , |
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| Dokumenttyp: | Article (Journal) |
| Sprache: | Englisch |
| Veröffentlicht: |
2024
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| In: |
Pflügers Archiv
Year: 2024, Jahrgang: 476, Heft: 2, Pages: 229-242 |
| ISSN: | 1432-2013 |
| DOI: | 10.1007/s00424-023-02882-0 |
| Online-Zugang: | Verlag, lizenzpflichtig, Volltext: https://doi.org/10.1007/s00424-023-02882-0
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| Verfasserangaben: | 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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| 520 | |a 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. | ||
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