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Article

Phenotypic characterization of a novel long-QT syndrome mutation (R1623Q) in the cardiac sodium channel.

Circulation - 24 Feb 1998

Kambouris N G, Nuss H B, Johns D C, Tomaselli G F, Marban E, Balser J R

Abstract excerpt

BACKGROUND: A heritable form of the long-QT syndrome (LQT3) has been linked to mutations in the cardiac sodium channel gene (SCN5A). Recently, a sporadic SCN5A mutation was identified in a Japanese girl afflicted with the long-QT syndrome. In contrast to the heritable mutations, this externally positioned domain IV, S4 mutation (R1623Q) neutralized a charged residue that is critically involved in...

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Identifiers

PMID: 9495298
DOI: 10.1161/01.cir.97.7.640

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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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