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Article

Novel mutations in KvLQT1 that affect Iks activation through interactions with Isk.

Cardiovascular research - 1 Mar 2000

Chouabe C, Neyroud N, Richard P, Denjoy I, Hainque B, Romey G, Drici M D, Guicheney P, Barhanin J

Abstract excerpt

OBJECTIVES: We report the functional expression of four KCNQ1 mutations affecting arginine residues and resulting in Romano-Ward (RW) and the Jervell and Lange-Nielsen (JLN) congenital long QT syndromes. RESULTS: The R539W and R190Q mutations were found in typical RW families with an autosomal dominant transmission. The R243H mutation was found in a compound heterozygous JLN patient who presents with deafness and...

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Source

Identifiers

PMID: 10728423
DOI: 10.1016/s0008-6363(99)00411-3

Genes

KCNQ1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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