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Article

Sodium channel abnormalities are infrequent in patients with long QT syndrome: identification of two novel SCN5A mutations.

American journal of medical genetics - 29 Oct 1999

Wattanasirichaigoon D, Vesely M R, Duggal P, Levine J C, Blume E D, Wolff G S, Edwards S B, Beggs A H

Abstract excerpt

Long QT syndrome (LQTS) is a heterogeneous disorder caused by mutations of at least five different loci. Three of these, LQT1, LQT2, and LQT5, encode potassium channel subunits. LQT3 encodes the cardiac-specific sodium channel, SCN5A. Previously reported LQTS-associated mutations of SCN5A include a recurring three amino acid deletion (DeltaKPQ1505-1507) in four different families, and four different missense...

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Identifiers

PMID: 10508990
DOI: 10.1002/(sici)1096-8628(19991029)86:5<470::aid-ajmg13>3.0.co;2-y

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Source receipt: pubmed, retrieved 7 Sept 2026.

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