Unverricht-Lundborg syndrome

Summary
Synonym
  • Unverricht - Lundborg disease
  • Unverricht's disease
  • Unverricht-Lundborg disease
Definition
A progressive myoclonus epilepsy characterized by onset between 6 and 13 years of age of action- and stimulus-sensitive myoclonus, tonic-clonic seizures with ataxia, and a mild cognitive decline.
Super Class
progressive myoclonus epilepsy
Disease Ontology
DOID:3535
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
Related Genes
Displaying 1 entry
Gene ID Gene Symbol Description Source
1476 CSTB cystatin B

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Acknowledgements

Supported by JST NBDC Grant Number JPMJND2204

Partly supported by NIH Common Fund Grant #1U01GM125267-01


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Last updated: December 9, 2024