Jervell Lange-Nielsen syndrome

Common Name(s)

Jervell Lange-Nielsen syndrome

Jervell Lange-Nielsen syndrome is a form of long QT syndrome. Symptoms include deafness from birth, arrhythmia, fainting, and sudden death. There are two different types, Jervell Lange-Nielsen syndrome type 1 and 2. It is inherited in an autosomal recessive fashion.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Jervell Lange-Nielsen syndrome" for support, advocacy or research.

SADS (Sudden Arrhythmia Death Syndromes) Foundation

Our mission is to save the lives of young people who are genetically predisposed to sudden death due to cardiac arrhythmia and to provide education and support to families and the medical community.

Last Updated: 23 Apr 2015

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Jervell Lange-Nielsen syndrome" for support, advocacy or research.

SADS (Sudden Arrhythmia Death Syndromes) Foundation

Our mission is to save the lives of young people who are genetically predisposed to sudden death due to cardiac arrhythmia and to provide education and support to families and the medical community.

http://www.StopSADS.org

Last Updated: 23 Apr 2015

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General Resources

SADS Foundation Website

Information on living with SADS, diagnosis, treatment, prevention, and advocacy/education.

Updated 29 Apr 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Jervell Lange-Nielsen syndrome" returned 23 free, full-text research articles on human participants. First 3 results:

"Homozygous, and compound heterozygous mutation in 3 Turkish family with Jervell and Lange-Nielsen syndrome: case reports".
 

Author(s): Fahrettin Uysal, Burcu Turkgenc, Guven Toksoy, Ozlem M Bostan, Elif Evke, Oya Uyguner, Cengiz Yakicier, Hulya Kayserili, Ergun Cil, Sehime G Temel

Journal:

 

Jervell and Lange-Nielsen syndrome (JLNS) isa recessive model of long QT syndrome which might also be related to possible hearing loss. Although the syndrome has been demonstrated to be originated from homozygous or compound heterozygous mutations in either the KCNQ1 or KCNE1 genes, ...

Last Updated: 17 Oct 2017

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A novel KCNQ1 nonsense variant in the isoform-specific first exon causes both jervell and Lange-Nielsen syndrome 1 and long QT syndrome 1: a case report.
 

Author(s): Motoi Nishimura, Marehiko Ueda, Ryota Ebata, Emi Utsuno, Takuma Ishii, Kazuyuki Matsushita, Osamu Ohara, Naoki Shimojo, Yoshio Kobayashi, Fumio Nomura

Journal:

 

According to previous KCNQ1 (potassium channel, voltage gated, KQT-like subfamily, member 1) gene screening studies, missense variants, but not nonsense or frame-shift variants, cause the majority of long QT syndrome (LQTS; Romano-Ward syndrome [RWS]) 1 cases. Several missense variants ...

Last Updated: 9 Jun 2017

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Clinical and molecular findings in a Moroccan family with Jervell and Lange-Nielsen syndrome: a case report.
 

Author(s): N Adadi, N Lahrouchi, R Bouhouch, I Fellat, R Amri, M Alders, A Sefiani, C Bezzina, I Ratbi

Journal:

 

Jervell and Lange-Nielsen syndrome (Online Mendelian Inheritance in Man 220400) is a rare autosomal recessive cardioauditory ion channel disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by congenital profound bilateral sensorineural hearing loss, a long ...

Last Updated: 2 Apr 2017

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Jervell Lange-Nielsen syndrome" returned 0 free, full-text review articles on human participants.

 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

Influence of Testosterone Administration on Drug-Induced QT Interval Prolongation and Torsades de Pointes
 

Status: Recruiting

Condition Summary: Prolonged QT Interval in EKG and Sudden Death

 

Last Updated: 28 Feb 2017

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