Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G).

doi:10.1161/hh1201.093270

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Article

Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G).

Circulation research - 22 Jun 2001

Baroudi G, Pouliot V, Denjoy I, Guicheney P, Shrier A, Chahine M

Abstract excerpt

The SCN5A gene encodes the alpha subunit of the human heart sodium channel (hH1), which plays a critical role in cardiac excitability. Mutations of SCN5A underlie Brugada syndrome, an inherited disorder that leads to ventricular fibrillation and sudden death. This study describes changes in cellular localization and functional expression of hH1 in a naturally occurring SCN5A mutation (R1432G) reported for Brugada...

Topics

Amino Acid Substitution
Animals
Bundle-Branch Block
Cell Membrane
Cells, Cultured
Death, Sudden, Cardiac
Electrophysiology
Gene Expression
Humans
Immunohistochemistry
Ion Channel Gating

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

NAV1.5 Voltage-Gated Sodium Channel

Oocytes

Patch-Clamp Techniques

Protein Subunits

Protein Transport

Sodium

Source

Open in PubMed

Identifiers

PMID: 11420310
DOI: 10.1161/hh1201.093270

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-11420310-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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