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juvenile myoclonic epilepsy

Disease Summary
Associated Targets (8)
Tclin

4

Tbio

2

Tchem

1

Tdark

1


GARD Rare
Mondo Description Juvenile myoclonic epilepsy is the most common hereditary idiopathic generalized epilepsy syndrome and is characterized by myoclonic jerks of the upper limbs on awakening, generalized tonic-clonic seizures manifesting during adolescence and triggered by sleep deprivation, alcohol intake, and cognitive activities, and typical absence seizures (30% of cases).
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0009696:  juvenile myoclonic epilepsy
EFO:0006572: 
GARD:0006808: 
MESH:D020190: 
NCIT:C84796: 
OMIMPS:254770: 
Orphanet:307: 
SCTID:6204001: 
UMLS:C0270853: