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Article

Molecular mechanisms of function deficiencies in KCNQ1 variants associated with Jervell and Lange-Nielsen syndrome.

Channels (Austin, Tex.) - 1 Dec 2025

Pan Xueqi, Xu Yu, Tan Zhenzhen, Lu Mingshun

Abstract excerpt

Jervell and Lange-Nielsen syndrome (JLNS) is characterized by congenital bilateral sensorineural hearing loss, a prolonged QT interval (QTc) on an electrocardiogram (ECG), and a high incidence of sudden death in childhood. More than 90% of JLNS cases are associated with variants in the potassium voltage-gated channel subfamily Q member 1 gene, KCNQ1 (Kv7.1). Herein, eighteen identified JLNS-related KCNQ1 variants...

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Identifiers

PMID: 41147441
DOI: 10.1080/19336950.2025.2580177
PMCID: PMC12574573

Genes

KCNQ1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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