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juvenile myoclonic epilepsy (EJM) - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

juvenile myoclonic epilepsy

MONDO:0009696

Also known as:EJMJMEepilepsy, myoclonic juvenile

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Overview

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).

GeneticsAutosomal dominant

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include very common findings: Morning myoclonic jerks, Generalized-onset seizure, and EEG with polyspike wave complexes; and common findings: Bilateral tonic-clonic seizure, Myoclonic seizure, Abnormality of the mouth, and Abnormal eye movements (abnormality of eye movement). 14 total HPO annotations.

Organ System	Phenotype Count	Example Features
Brain and nerves	10	Bilateral tonic-clonic seizure, Status epilepticus, Generalized non-motor (absence) seizure

Diagnosis

Biomarker and diagnostic research for juvenile myoclonic epilepsy has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 very common features, 4 common features.

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

137 publications have been identified in PubMed for juvenile myoclonic epilepsy. Research spans Basic Science / Preclinical (30%), Epidemiology / Natural History (22%), and Review / Meta-Analysis (12%).

Research Type	Count	% of Total
Laboratory research	41	30%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 10:44 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:254770 OMIM:606904

Orphanet

European rare disease database

Orphanet:307

GARD

Genetic and Rare Diseases Info Center

GARD:6808

Questions for Your Care Team

→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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Kisho

juvenile myoclonic epilepsy

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

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Recent Publications

juvenile myoclonic epilepsy

Overview

Clinical Presentation

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Subtypes

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Explore clinical features

Recent Publications