juvenile myoclonic epilepsy

Summary
Definition
A adolescence-adult electroclinical syndrome that is characterized by brief, involuntary twitching of a muscle or a group of muscles (myoclonus) early in the morning with onset between 12 and 18 years.
Super Class
adolescence-adult electroclinical syndrome
External Links
Disease Ontology
DOID:4890
Mondo Disease Ontology
MeSH
UMLS
NCI Thesaurus
ORDO
OMIM
GARD
MGI genotype (from TogoID)
WikiPathways (from TogoID)
Related Genes
Displaying all 3 entries
Gene ID Gene Symbol Description Source
2131 EXT1 exostosin glycosyltransferase 1
7915 ALDH5A1 aldehyde dehydrogenase 5 family member A1
80896 NPL N-acetylneuraminate pyruvate lyase
Related Glycoprotein
Displaying all 2 entries
UniProt ID Protein Name Source
P51649 Succinate-semialdehyde dehydrogenase, mitochondrial
Q16394 Exostosin-1

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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