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Article

An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations.

American journal of medical genetics. Part A - 1 Mar 2017

Coto Eliecer, García-Fernández Francisco J, Calvo David, Salgado-Aranda Ricardo, Martín-González Javier, Alonso Belén, Iglesias Sara, Gómez Juan

Abstract excerpt

We present the case of a 66-year-old female with early onset deafness and seizures, who was diagnosed with epilepsy at the age of 2 years. She received antiepileptic drugs and was free of syncope episodes for 32 years. After a syncope at the age of 34, the ECG was characteristic of long-QT syndrome and was treated with antiarrhythmic drugs. Sequencing of the KCNQ1 gene identified two novel KCNQ1 variants...

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Source

Identifiers

PMID: 27868350
DOI: 10.1002/ajmg.a.38062

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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