Jervell Lange-Nielsen Syndrome (JLNS) Latest Advances

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

Jervell Lange-Nielsen Syndrome (JLNS) Latest Advances

Find the Latest Research About Jervell Lange-Nielsen Syndrome (JLNS)

Late diagnosis of Jervell and Lange-Nielsen syndrome in two sisters with homozygous KCNQ1 mutation.

Late diagnosis of Jervell and Lange-Nielsen syndrome in two sisters with homozygous KCNQ1 mutation.

Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.

Functional Profiling of KCNE1 Variants Informs Population Carrier Frequency of Jervell and Lange-Nielsen Syndrome Type 2.

Pregnant woman with Jervell and Lange-Nielsen syndrome: a case report.

Pregnant woman with Jervell and Lange-Nielsen syndrome: a case report.

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

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

Jervell and Lange-Nielsen Syndrome Manifesting as Seizure-Like Episodes in Childhood.

Jervell and Lange-Nielsen Syndrome Manifesting as Seizure-Like Episodes in Childhood.

Overlap of Congenital Deafness and Long QT Syndrome With Distinct Genetic Basis: A Diagnostic Challenge.

Overlap of Congenital Deafness and Long QT Syndrome With Distinct Genetic Basis: A Diagnostic Challenge.

Case Report Series: Genetic and clinical characterization of long QT syndrome in admixed Ecuadorian patients and its implications for sudden cardiac death risk.

Case Report Series: Genetic and clinical characterization of long QT syndrome in admixed Ecuadorian patients and its implications for sudden cardiac death risk.

Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2.

Functional profiling of KCNE1 variants informs population carrier frequency of Jervell and Lange-Nielsen syndrome type 2.

Increased L-type calcium current causes action potential prolongation in Jervell and Lange-Nielsen syndrome and is a drug target.

Increased L-type calcium current causes action potential prolongation in Jervell and Lange-Nielsen syndrome and is a drug target.

The history of Jervell and Lange-Nielsen syndrome.

The history of Jervell and Lange-Nielsen syndrome.

Jervell and Lange-Nielsen Syndrome (JLNS) in a 13-Year-Old Girl: A Rare Case Report.

Jervell and Lange-Nielsen Syndrome (JLNS) in a 13-Year-Old Girl: A Rare Case Report.

Cochlear implantation in syndromic patients: difficulties and lessons learnt.

Cochlear implantation in syndromic patients: difficulties and lessons learnt.