Jervell-Lange Nielsen Syndrome
"Jervell-Lange Nielsen Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus,
MeSH (Medical Subject Headings). Descriptors are arranged in a hierarchical structure,
which enables searching at various levels of specificity.
A form of long QT syndrome that is associated with congenital deafness. It is characterized by abnormal cardioelectrophysiology involving the VOLTAGE-GATED POTASSIUM CHANNEL. It results from mutation of KCNQ1 gene (Subtype 1 or JLN1) or the KCNE1 gene (Subtype 2 or JLN2).
| Descriptor ID |
D029593
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| MeSH Number(s) |
C14.280.067.565.440 C14.280.123.625.440 C16.131.240.400.715.440
|
| Concept/Terms |
Jervell-Lange Nielsen Syndrome- Jervell-Lange Nielsen Syndrome
- Jervell Lange Nielsen Syndrome
- Syndrome, Jervell-Lange Nielsen
- Cardioauditory Syndrome of Jervell and Lange-Nielsen
- Cardioauditory Syndrome of Jervell and Lange Nielsen
- Surdo-Cardiac Syndrome
- Surdo Cardiac Syndrome
- Surdo-Cardiac Syndromes
- Syndrome, Surdo-Cardiac
- Jervell and Lange-Nielsen Syndrome
- Jervell and Lange Nielsen Syndrome
- Jervell And Lange-Nielsen Syndrome 1
- Prolonged QT Interval in EKG and Sudden Death
- Cardio-Auditory-Syncope Syndrome
- Deafness, Congenital, and Functional Heart Disease
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Below are MeSH descriptors whose meaning is more general than "Jervell-Lange Nielsen Syndrome".
Below are MeSH descriptors whose meaning is more specific than "Jervell-Lange Nielsen Syndrome".
This graph shows the total number of publications written about "Jervell-Lange Nielsen Syndrome" by people in this website by year, and whether "Jervell-Lange Nielsen Syndrome" was a major or minor topic of these publications.
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| Year | Major Topic | Minor Topic | Total |
|---|
| 2023 | 0 | 1 | 1 |
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Below are the most recent publications written about "Jervell-Lange Nielsen Syndrome" by people in Profiles.
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Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population. Orphanet J Rare Dis. 2023 01 31; 18(1):23.