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ORPHA:1941

Juvenile absence epilepsy

medium confidenceDisorder

Also known as: JAE

Publications

874

83.3th percentile

Trials

5

Interventional, condition-specific

Researchers

1,134

Distinct authors in sample

Gene link

—

Readiness

4/6

Stages with a signal

Clinical definition (Orphanet)

Juvenile absence (JAE) is a genetic with onset occurring around puberty. JAE is characterized by sporadic occurrence of absence , frequently associated with a long-life prevalence of generalized tonic-clonic (GTCS) and sporadic myoclonic jerks.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

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

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    874 matched papers (502 in last 10 years) Source

  3. Phenotype characterisedPresent

    13 HPO annotations (e.g. Myoclonus; Generalized non-motor (absence) seizure; Anxiety) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationPresent

    1 FDA designation (1 FDA orphan-indication approval) — e.g. brivaracetam Source

  6. Interventional trialPresent

    5 matched on ClinicalTrials.gov

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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

13

Associated phenotypes · MONDO:0011876

  • Myoclonus
  • Generalized non-motor (absence) seizure
  • Anxiety
  • Specific learning disability
  • Status epilepticus

Showing 5 of 13 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

1

Designation · 1 with FDA orphan-indication approval

  • FDA brivaracetamJuvenile Absence Epilepsy · 2019-12-03 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

No drugs or clinical candidates returned for this Mondo ID on Open Targets.

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

874

874 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.

874 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).

502 in the last 10 years · medium confidence · 83.3th percentile (publications denominator)

Phrase hits: 874 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,134

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
    Wang Y7 papers · 2026

    Department of Neurology, Zhucheng Integrated Traditional Chinese and Western Medicine Hospital, Weifang, China.

    Papers in Europe PMC
  2. 02
    Cerulli Irelli E5 papers · 2026

    Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy.

    Papers in Europe PMC
  3. 03
    Di Bonaventura C5 papers · 2026

    Department of Human Neurosciences, Sapienza University of Rome, 00185 Rome, Italy.

    Papers in Europe PMC
  4. 04
    Koepp MJ5 papers · 2026

    From the Comprehensive Epilepsy Center (O.D., C.E.), New York University School of Medicine, New York, Department of Neuroscience (S.S.), Central Clinical School, Monash University, Melbourne, Department of Neurology (S.S.), Alfred Health, Melbourne; Departments of Medicine and Neurology, The Royal Melbourne Hospital (S.S.), Epilepsy Research Centre, Department of Medicine, Austin Health (I.E.S.), Murdoch Children's Research Institute (I.E.S.), and Department of Pediatrics (I.E.S.), Royal Children's Hospital, The University of Melbourne; The Florey Institute of Neuroscience and Mental Health (I.E.S.), Melbourne, Victoria, Australia; and Department of Clinical and Experimental Epilepsy (M.J.K.), University College London Institute of Neurology, United Kingdom.

    Papers in Europe PMC
  5. 05
    Wandschneider B5 papers · 2026

    Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.

    Papers in Europe PMC
  6. 06
    Zhang X5 papers · 2025

    Department of Neurology, Peking University First Hospital, Beijing, China.

    Papers in Europe PMC
  7. 07
    Beier CP4 papers · 2025

    Department of Neurology, Odense University Hospital, Odense, Denmark.

    Papers in Europe PMC
  8. 08
    Caciagli L4 papers · 2026

    Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom

    Papers in Europe PMC
  9. 09
    Duncan JS4 papers · 2026

    Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom

    Papers in Europe PMC
  10. 10
    Ferlazzo E4 papers · 2025

    Regional Epilepsy Centre, Great Metropolitan "BMM" Hospital, Reggio, Calabria, Italy.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

5

interventional trials for this specific condition

5 interventional trials matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026

5 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 89.2th percentile).

medium confidence · 89.2th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

No currently recruiting studies in the matched set. Open the same 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 3 · after dedupe 3 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 3 · 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 (3)

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 absence 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 absence epilepsy"

Run this search on Europe PMC

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

"Juvenile absence epilepsy"

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: 5 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

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

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: JAE

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T18:33:48.017Z