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ORPHA:307

Juvenile myoclonic epilepsy

low confidenceDisorder

Also known as: JME · Juvenile myoclonus epilepsy

Publications

4,543

Trials

3

Interventional, condition-specific

Researchers

1,022

Distinct authors in sample

Gene link

EFHC1

Limited

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

A rare syndrome characterized by adolescence/young adulthood onset of myoclonic with or without other generalized seizure types in an otherwise healthy individual. The electroencephalogram (EEG) shows 3-5.5 Hz generalized spike-waves and polyspike-waves. Photosensitivity is common.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (5)

EJM · epilepsy, myoclonic juvenile · juvenile myoclonus epilepsy · myoclonic epilepsy, juvenile · myoclonic epilepsy, juvenile, 1

Research stages

Trial readiness signals

Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”

5/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Limited — EFHC1

  2. LiteraturePresent

    4,543 matched papers (2,287 in last 10 years) Source

  3. Phenotype characterisedPresent

    20 HPO annotations (e.g. Myoclonic seizure; Bilateral tonic-clonic seizure; EEG with generalized polyspikes) Source

  4. Animal modelPresent

    2 genotype models (Mus musculus) Source

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    3 matched on ClinicalTrials.gov (1 recruiting in sample)

Biology

Genes and phenotypes

Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.

Do we know what causes it?

Possibly — only limited evidence so far for EFHC1.

GenCC classification: Limited.

Phenotypes (Monarch / HPO)

20

Associated phenotypes · MONDO:0009696

  • Myoclonic seizure
  • Bilateral tonic-clonic seizure
  • EEG with generalized polyspikes
  • Generalized non-motor (absence) seizure
  • Intellectual disability

Showing 5 of 20 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

Monarch fetch 2026-07-29

Therapies

Designations, candidates, and chemicals

FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.

Orphan designation (FDA · EMA)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

Open Targets candidates

2

Drugs / clinical candidates · MONDO_0009696

CTD chemicals (MyDisease.info)

3 associated chemicals · 30 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Acetazolamide · therapeutic
  • Levetiracetam · therapeutic
  • Valproic Acid · therapeutic

Pathways: MAPK signaling pathway; Neuroactive ligand-receptor interaction; Cardiac muscle contraction; Adrenergic signaling in cardiomyocytes; Retrograde endocannabinoid signaling; GABAergic synapse; Taste transduction; Oxytocin signaling pathway

MyDisease.info · MONDO:0009696

Literature

Is anyone studying this?

4,543

4,543 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.

4,543 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).

2,287 in the last 10 years · low confidence

Phrase hits: 4,238 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,022

Distinct author names in 200 sampled papers — named people below.

Who's working on it?

People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.

  1. 01
    Struck AF10 papers · 2026

    Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

    Papers in Europe PMC
  2. 02
    Hermann BP9 papers · 2026

    Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

    Papers in Europe PMC
  3. 03
    Prabhakaran V9 papers · 2026

    Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

    Papers in Europe PMC
  4. 04
    Adluru N8 papers · 2026

    Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

    Papers in Europe PMC
  5. 05
    Garcia-Ramos C8 papers · 2026

    Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

    Papers in Europe PMC
  6. 06
    Jones JE8 papers · 2026

    Department of Neurology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

    Papers in Europe PMC
  7. 07
    Adluru A6 papers · 2026

    Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

    Papers in Europe PMC
  8. 08
    Baykan B6 papers · 2026

    Department of Neurology, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.

    Papers in Europe PMC
  9. 09
    Li Y6 papers · 2025

    Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong, China.

    Papers in Europe PMC
  10. 10
    Nair V6 papers · 2026

    Department of Radiology, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 1 trial are registered for myoclonic epilepsy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 11 September 2026 · last trial check 28 July 2026

3 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 86.7th percentile).

low confidence · 86.7th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 interventional trials matched after quoted-phrase search and title/condition post-filter.

Broader category: myoclonic epilepsy

1

Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.

Worth raising with a clinician. How we count trials.

Observational and natural-history studies

1 observational study matches this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

Other registries (secondary)

Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.

raw 62 · after dedupe 59 · already on CT.gov 1 · kept 0 · parent 0 · uncertain 58 · dropped 0 · fetched 2026-07-29

Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri

No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).

Uncertain / not reviewed (58)

Where to find support

Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.

Orphanet entry for Juvenile myoclonic epilepsy — check Associations / patient organisations on that page.

India — NPRD

Last verified 2026-07-26

This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.

Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.

How we counted this

Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.

("Juvenile myoclonic epilepsy" OR "Juvenile myoclonus epilepsy" OR "epilepsy, myoclonic juvenile" OR "myoclonic epilepsy, juvenile" OR "myoclonic epilepsy, juvenile, 1") OR ("EFHC1" OR "EFHC1 syndrome" OR "EFHC1-related")

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Juvenile myoclonic epilepsy" OR "Juvenile myoclonus epilepsy" OR "epilepsy, myoclonic juvenile" OR "myoclonic epilepsy, juvenile" OR "myoclonic epilepsy, juvenile, 1"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Parent-category trials query:

"myoclonic epilepsy"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: JME; EJM

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (4543) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T13:20:35.846Z