juvenile myoclonic epilepsy
Findings
No curated finding names juvenile myoclonic epilepsy yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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).
Definition from the Mondo Disease Ontology (MONDO:0009696), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Juvenile onset
HPO, annotations 2026-09-02
Features
14 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- EEG with polyspike wave complexesHPOHP:0002392
- Very frequent (80% to 99% of cases)
- Generalized-onset seizureHPOHP:0002197
- Very frequent (80% to 99% of cases)
- Morning myoclonic jerksHPOHP:0007000
- Very frequent (80% to 99% of cases)
- Myoclonic seizureHPOHP:0032794
- 10 of 13 reported patients
- Generalized non-motor (absence) seizureHPOHP:0002121
- 14 of 23 reported patients
- Occasional (5% to 29% of cases)
- Abnormality of eye movementHPOHP:0000496
- Frequent (30% to 79% of cases)
Show the remaining 2
- Intellectual disabilityHPOHP:0001249
- 0 of 13 reported patients
- MyoclonusMondoHP:0001336
Genes
4 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- Narrower terms (1)
Other names
6 names
Resolves to: juvenile myoclonic epilepsy
- Also called
- EJMepilepsy, myoclonic juvenileJMEjuvenile myoclonus epilepsymyoclonic epilepsy, juvenilemyoclonic epilepsy, juvenile, 1