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 1 - 10 of 51 in total
Gene ID Gene Symbol Description Source
275 AMT aminomethyltransferase
410 ARSA arylsulfatase A
427 ASAH1 N-acylsphingosine amidohydrolase 1
523 ATP6V1A ATPase H+ transporting V1 subunit A
1203 CLN5 CLN5 intracellular trafficking protein
1557 CYP2C19 cytochrome P450 family 2 subfamily C member 19
1593 CYP27A1 cytochrome P450 family 27 subfamily A member 1
2629 GBA1 glucosylceramidase beta 1
2653 GCSH glycine cleavage system protein H
2731 GLDC glycine decarboxylase
Related Glycoprotein

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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