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Updated: Mar 11, 2026

Isolation and Kv Channel Recordings in Murine Atrial and Ventricular Cardiomyocytes
Published on: March 12, 2013
An elderly Jervell and Lange-Nielsen patient heterozygous compound for two new KCNQ1 mutations
Eliecer Coto1,2, Francisco J García-Fernández3, David Calvo1
1Genética Molecular and Cardiología, HUCA, Oviedo, Spain.
Abstract:
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 interpreted to be pathogenic, and the patient was finally diagnosed with Jervell and Lange-Nielsen syndrome. © 2016 Wiley Periodicals, Inc.
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