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Article

A missense mutation in the sodium channel β1b subunit reveals SCN1B as a susceptibility gene underlying long QT syndrome.

Heart rhythm - 1 Jul 2014

Riuró Helena, Campuzano Oscar, Arbelo Elena, Iglesias Anna, Batlle Montserrat, Pérez-Villa Felix, Brugada Josep, Pérez Guillermo J, Scornik Fabiana S, Brugada Ramon

Abstract excerpt

BACKGROUND: Long QT syndrome (LQTS) is associated with sudden cardiac death and the prolongation of the QT interval on the electrocardiogram. A comprehensive screening of all genes previously associated with this disease leaves 30% of the patients without a genetic diagnosis. Pathogenic mutations in the sodium channel β subunits have been associated with cardiac channelopathies, including SCN4B mutations in LQTS....

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Identifiers

PMID: 24662403
DOI: 10.1016/j.hrthm.2014.03.044

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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