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
External Links
Disease Ontology
DOID:3535
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
GARD
MGI genotype (from TogoID)
Related Genes
Displaying entries 21 - 30 of 51 in total
Gene ID Gene Symbol Description Source
5660 PSAP prosaposin
6309 SC5D sterol-C5-desaturase
6389 SDHA succinate dehydrogenase complex flavoprotein subunit A
6392 SDHD succinate dehydrogenase complex subunit D
6487 ST3GAL3 ST3 beta-galactoside alpha-2,3-sialyltransferase 3
6900 CNTN2 contactin 2
7957 EPM2A EPM2A glucan phosphatase, laforin
8398 PLA2G6 phospholipase A2 group VI
8867 SYNJ1 synaptojanin 1
8869 ST3GAL5 ST3 beta-galactoside alpha-2,3-sialyltransferase 5

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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: August 19, 2024