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Last Updated: 10/31/2025
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Found 156 publications
Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2.
Journal: bioRxiv : the preprint server for biology
Published: April 16, 2025
Increased L-type calcium current causes action potential prolongation in Jervell and Lange-Nielsen syndrome and is a drug target.
Journal: medRxiv : the preprint server for health sciences
Published: April 01, 2025
The history of Jervell and Lange-Nielsen syndrome.
Journal: Tidsskrift for den Norske laegeforening : tidsskrift for praktisk medicin, ny raekke
Published: December 18, 2024
Jervell and Lange-Nielsen Syndrome (JLNS) in a 13-Year-Old Girl: A Rare Case Report.
Journal: Clinical case reports
Published: September 09, 2024
Cochlear implantation in syndromic patients: difficulties and lessons learnt.
Journal: European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery
Published: June 29, 2024
Genetic characterization of KCNQ1 variants improves risk stratification in type 1 long QT syndrome patients.
Journal: Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology
Published: March 05, 2024
Recessive COL17A1 Mutations and a Dominant LAMB3 Mutation Cause Hypoplastic Amelogenesis Imperfecta.
Recessive COL17A1 Mutations and a Dominant LAMB3 Mutation Cause Hypoplastic Amelogenesis Imperfecta.
Journal: Journal of personalized medicine
Published: September 08, 2023
Autosomal Recessive Long QT Syndrome: Clinical Aspects and Therapy.
Journal: Pediatric cardiology
Published: June 21, 2023
Novel combinations of variations in KCNQ1 were associated with patients with long QT syndrome or Jervell and Lange-Nielsen syndrome.
Journal: BMC cardiovascular disorders
Published: April 24, 2023
Last Updated: 10/31/2025