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ORPHA:64280

Childhood absence epilepsy

high confidenceDisorder

Also known as: Pyknolepsy

Publications

2,282

88.3th percentile

Trials

9

Interventional, condition-specific

Researchers

1,047

Distinct authors in sample

Gene link

—

Readiness

5/6

Stages with a signal

Clinical definition (Orphanet)

An generalized characterized by the appearance in an otherwise healthy child of multiple per day typical absence . remits in the majority of children, at later by early adolescence.

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.

Additional Mondo synonyms (1)

pyknolepsy

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 identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    2,282 matched papers (1,209 in last 10 years) Source

  3. Phenotype characterisedPresent

    27 HPO annotations (e.g. EEG with spike-wave complexes (>3.5 Hz); Febrile seizure (within the age range of 3 months to 6 years); Dyslexia) Source

  4. Animal modelPresent

    2 genotype models (Rattus norvegicus) Source

  5. Orphan designationPresent

    2 FDA designations (2 FDA orphan-indication approvals) — e.g. brivaracetam Source

  6. Interventional trialPresent

    9 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)

27

Associated phenotypes · MONDO:0010826

  • EEG with spike-wave complexes (>3.5 Hz)
  • Febrile seizure (within the age range of 3 months to 6 years)
  • Dyslexia
  • Impaired visuospatial constructive cognition
  • Jerky head movements

Showing 5 of 27 — open Monarch for the full list.

Animal models (Monarch / Alliance)

2

Model associations linked to this Mondo ID

  • TRM/Kyo·RGD:1302702·Rattus norvegicus
  • GRY/Idr·RGD:1599759·Rattus norvegicus

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)

2

Designations · 2 with FDA orphan-indication approval

  • FDA brivaracetamchildhood absence epilepsy · 2019-12-03 · Not FDA Approved for Orphan Indication
  • FDA cannabidiolchildhood absence epilepsy · 2019-08-15 · Not FDA Approved for Orphan Indication

Sources: FDA OOPD · EMA orphan designations

Open Targets candidates

6

Drugs / clinical candidates · MONDO_0010826

CTD chemicals (MyDisease.info)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

2,282

2,282 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.

2,282 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).

1,209 in the last 10 years · high confidence · 88.3th percentile (publications denominator)

Phrase hits: 2,282 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,047

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 Y12 papers · 2026

    Department of Neurology, Affiliated Brain Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing, China.

    Papers in Europe PMC
  2. 02
    Li Y9 papers · 2026

    Shandong University, Jinan, Shandong, China.

    Papers in Europe PMC
  3. 03
    Wang X9 papers · 2026

    Department of Neurology, Affiliated Brain Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing, China.

    Papers in Europe PMC
  4. 04
    Li M7 papers · 2026

    Department of Neurology, Affiliated Brain Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing, China.

    Papers in Europe PMC
  5. 05
    Crunelli V5 papers · 2026

    Instituto de Farmacologia e Neurociências, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.

    Papers in Europe PMC
  6. 06
    Di Giovanni G5 papers · 2026

    Neuroscience Division, School of Bioscience, Cardiff University, Cardiff, UK.

    Papers in Europe PMC
  7. 07
    Ahmed M4 papers · 2025

    Department of Applied Mathematics, and Centre for Theoretical Neuroscience, University of Waterloo, 200 University Avenue W, Waterloo, N2L 3G1, ON, Canada. m243ahme@uwaterloo.ca.

    Papers in Europe PMC
  8. 08
    Campbell SA4 papers · 2025

    Department of Applied Mathematics, and Centre for Theoretical Neuroscience, University of Waterloo, 200 University Avenue W, Waterloo, N2L 3G1, ON, Canada.

    Papers in Europe PMC
  9. 09
    Chen J4 papers · 2026

    Guangxi University of Chinese Medicine, Nanning, 530200, China.

    Papers in Europe PMC
  10. 10
    Chen X4 papers · 2026

    Department of Radiology, The Affiliated Huai'an Hospital of Xuzhou Medical University, Huai'an, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

9

interventional trials for this specific condition

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

Data as of 11 September 2026

9 interventional trials — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 92th percentile).

high confidence · 92th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

9 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.

Observational and natural-history studies

4 observational studies match 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 12 · after dedupe 12 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 12 · 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 (12)

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 Childhood 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.

"Childhood absence epilepsy" OR "Pyknolepsy"

Run this search on Europe PMC

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

"Childhood absence epilepsy" OR "Pyknolepsy"

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: 9 interventional · 4 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

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T01:08:25.066Z