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 41 - 50 of 51 in total
Gene ID Gene Symbol Description Source
55624 POMGNT1 protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)
55650 PIGV phosphatidylinositol glycan anchor biosynthesis class V
55768 NGLY1 N-glycanase 1
79947 DHDDS dehydrodolichyl diphosphate synthase subunit
84342 COG8 component of oligomeric golgi complex 8
84720 PIGO phosphatidylinositol glycan anchor biosynthesis class O
84992 PIGY phosphatidylinositol glycan anchor biosynthesis class Y
91869 RFT1 RFT1 homolog
93210 PGAP3 post-GPI attachment to proteins phospholipase 3
132158 GLYCTK glycerate kinase

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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