ORPHA:64280
Childhood absence epilepsy
Also known as: Pyknolepsy
Publications
2,282
93.7th percentile
Trials
9
Interventional, condition-specific
Researchers
1,047
Distinct authors in sample
Gene link
—
Readiness
2/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010826
- UMLS:C4281785
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.”
2/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
2,282 matched papers (1,209 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
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=5449) is 41.
2,282 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
1,209 in the last 10 years · high confidence · 93.7th percentile (publications denominator)
Phrase hits: 2,282 · MeSH hits: 0
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.
- 01Wang Y12 papers · 2026
Department of Neurology, Affiliated Brain Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing, China.
Papers in Europe PMC - 02
- 03Wang X9 papers · 2026
Department of Neurology, Affiliated Brain Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing, China.
Papers in Europe PMC - 04Li M7 papers · 2026
Department of Neurology, Affiliated Brain Hospital of Nanjing Medical University, Nanjing Medical University, Nanjing, China.
Papers in Europe PMC - 05Crunelli V5 papers · 2026
Instituto de Farmacologia e Neurociências, Faculdade de Medicina, Universidade de Lisboa, Lisboa, Portugal.
Papers in Europe PMC - 06Di Giovanni G5 papers · 2026
Neuroscience Division, School of Bioscience, Cardiff University, Cardiff, UK.
Papers in Europe PMC - 07Ahmed 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 - 08Campbell 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 - 09Chen J4 papers · 2026
Guangxi University of Chinese Medicine, Nanning, 530200, China.
Papers in Europe PMC - 10Chen 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 27 July 2026
9 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 91.2th percentile).
high confidence · 91.2th 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.
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This 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"
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