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Article

Long QT syndrome, Brugada syndrome, and conduction system disease are linked to a single sodium channel mutation.

The Journal of clinical investigation - 1 Oct 2002

Grant Augustus O, Carboni Michael P, Neplioueva Valentina, Starmer C Frank, Memmi Mirella, Napolitano Carlo, Priori Silvia

Abstract excerpt

The function of the 12 positive charges in the 53-residue III/IV interdomain linker of the cardiac Na(+) channel is unclear. We have identified a four-generation family, including 17 gene carriers with long QT syndrome, Brugada syndrome, and conduction system disease with deletion of lysine 1500 (DeltaK1500) within the linker. Three family members died suddenly. We have examined the functional consequences of...

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Identifiers

PMID: 12393856
DOI: 10.1172/JCI15570
PMCID: PMC150793

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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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