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ORPHA:86909

Myoclonic epilepsy of infancy

low confidenceDisorder

Also known as: Benign myoclonic epilepsy of infancy · Benign myoclonus epilepsy of infancy · MEI

Publications

1,175

Trials

0

Interventional, condition-specific

Researchers

1,138

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare syndrome characterized by an -onset of sudden, frequent and generalized myoclonic that occur in neurologically and developmentally normal patients, and later resolve during childhood with a generally favorable outcome.

How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (2)

benign myoclonic epilepsy of infancy · benign myoclonus epilepsy of infancy

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.”

3/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    1,175 matched papers (442 in last 10 years) Source

  3. Phenotype characterisedPresent

    21 HPO annotations (e.g. EEG with irregular generalized spike and wave complexes; Bilateral tonic-clonic seizure; Generalized myoclonic seizure) Source

  4. Animal modelNot found

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

  5. Orphan designationNot found

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

  6. Interventional trialPartial

    None under the specific name; 4 for broader category myoclonic epilepsy

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)

21

Associated phenotypes · MONDO:0019486

  • EEG with irregular generalized spike and wave complexes
  • Bilateral tonic-clonic seizure
  • Generalized myoclonic seizure
  • Attention deficit hyperactivity disorder
  • Aggressive behavior

Showing 5 of 21 — 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)

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

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?

1,175

1,175 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.

1,175 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).

442 in the last 10 years · low confidence

Phrase hits: 1,175 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,138

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

Who's working on it?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  1. 01
    Striano P6 papers · 2023

    Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, "G. Gaslini" Institute, University of Genoa, Genoa, Italy.

    Papers in Europe PMC
  2. 02
    Wang X6 papers · 2024

    Department of Neurology 1st Affiliated Hospital of Chongqing Medical University Chongqing China.

    Papers in Europe PMC
  3. 03
    Lee J5 papers · 2024

    Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.

    Papers in Europe PMC
  4. 04
    Verrotti A4 papers · 2017

    Department of Pediatrics, University of Perugia, Italy.

    Papers in Europe PMC
  5. 05
    Auvin S3 papers · 2026

    Department of Pediatric Neurology, Lille University Hospital Roger Salengro, 59037 Lille Cedex, France. auvin@invivo.edu

    Papers in Europe PMC
  6. 06
    Brunklaus A3 papers · 2024

    Paediatric Neurosciences Research Group, Royal Hospital for Children, Glasgow, UK.

    Papers in Europe PMC
  7. 07
    Chen C3 papers · 2024

    Department of Neurosurgery, The Fifth Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan, 450052, People's Republic of China.

    Papers in Europe PMC
  8. 08
    Gambardella A3 papers · 2018

    Institute of Neurology, Università degli Studi Magna Græcia di Catanzaro, Catanzaro, Italy.

    Papers in Europe PMC
  9. 09
    Hallemans A3 papers · 2021

    Research Group MOVANT, Department of Rehabilitation Sciences and Physiotherapy (REVAKI), University of Antwerp, Wilrijk, Belgium; Multidisciplinary Motor Centre Antwerp (M2OCEAN), University of Antwerp, Belgium. Electronic address: ann.hallemans@uantwerpen.be.

    Papers in Europe PMC
  10. 10
    Hood V3 papers · 2026

    Dravet Syndrome Foundation, Inc, PO Box 3026, Cherry Hill, NJ 08034, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial. 4 trials 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 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

low confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

4 interventional trials matched myoclonic epilepsy, the broader category — listed below. Those studies are not counted in the condition-specific total.

Broader category: myoclonic epilepsy

4

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.

Recruiting under the broader category

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.

None of the matched observational studies is currently listed as 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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-30

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 (1)

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 Myoclonic epilepsy of infancy — 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.

"Myoclonic epilepsy of infancy" OR "Myoclonic epilepsy of the infancy" OR "Benign myoclonic epilepsy of infancy" OR "Benign myoclonic epilepsy of the infancy" OR "Benign myoclonus epilepsy of infancy" OR "Benign myoclonus epilepsy of the infancy"

Run this search on Europe PMC

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

"Myoclonic epilepsy of infancy" OR "Myoclonic epilepsy of the infancy" OR "Benign myoclonic epilepsy of infancy" OR "Benign myoclonic epilepsy of the infancy" OR "Benign myoclonus epilepsy of infancy" OR "Benign myoclonus epilepsy of the infancy"

Study-type breakdown: 0 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: MEI

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
  • Publication count (1175) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T03:19:44.035Z