ORPHA:86814
Familial adult myoclonic epilepsy
Also known as: ADCME · Autosomal dominant cortical myoclonus and epilepsy · BAFME · Benign adult familial myoclonus epilepsy · FAME · FCMTE · Familial cortical myoclonic tremor and epilepsy
Publications
387
74.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,172
Distinct authors in sample
Gene link
—
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
Benign adult familial myoclonic (BAFME) is an inherited epileptic syndrome characterized by cortical hand tremors, myoclonic jerks and occasional generalized or focal with a non- or very slowly disease course, and no signs of early dementia or cerebellar .
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0019448
- UMLS:C4273988
Additional Mondo synonyms (4)
autosomal dominant cortical myoclonus and epilepsy · benign adult familial myoclonus epilepsy · familial adult myoclonic epilepsy · familial cortical myoclonic tremor and epilepsy
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.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
387 matched papers (281 in last 10 years) Source
- Phenotype characterisedPresent
8 HPO annotations (e.g. Generalized-onset seizure; Intellectual disability; Myoclonus) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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)
8
Associated phenotypes · MONDO:0019448
- Generalized-onset seizure
- Intellectual disability
- Myoclonus
- Hand tremor
- Focal-onset seizure
Showing 5 of 8 — 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?
387
387 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
387 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).
281 in the last 10 years · medium confidence · 74.2th percentile (publications denominator)
Phrase hits: 387 · MeSH hits: 0
Who's working on it?
1,172
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.
- 01Ikeda A18 papers · 2026
Department of Epilepsy, Movement Disorders and Physiology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Papers in Europe PMC - 02Luo W17 papers · 2026
Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
Papers in Europe PMC - 03Cen Z15 papers · 2026
Department of Neurology, the Second Affiliated Hospital, Shool of Medicine, Zhejiang University, Hangzhou, Zhejiang 310009, P. R. China. luoweirock@126.com.
Papers in Europe PMC - 04Striano P14 papers · 2025
Department of Neurosciences, G. Gaslini Institute, University of Genoa, Genoa, Italy.
Papers in Europe PMC - 05Hitomi T13 papers · 2026
Department of Neurology, Kyoto University School of Medicine, Kyoto, Japan.
Papers in Europe PMC - 06Kobayashi K12 papers · 2026
Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Papers in Europe PMC - 07Takahashi R12 papers · 2026
Department of Neurology, Kyoto University Graduate School of Medicine, Kyoto, Japan.
Papers in Europe PMC - 08van Rootselaar AF12 papers · 2021
Department of Neurology and Clinical Neurophysiology, University of Amsterdam, Amsterdam, the Netherlands. a.f.vanrootselaar@amc.uva.nl
Papers in Europe PMC - 09Wang B11 papers · 2026
Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, Zhejiang, China.
Papers in Europe PMC - 10Xie F11 papers · 2025
Department of Neurology, Second Affiliated Hospital, School of Medicine, Zhejiang University, Hangzhou, Zhejiang, China.
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 on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 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.
medium 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
- NCT07723963·NOT YET RECRUITING·A Study to Evaluate the Safety and Efficacy of JZP926 Capsule for the Treatment of Juvenile Myoclonic Epilepsy
Conditions: Juvenile Myoclonic Epilepsy·Matched via name phrase
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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · 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).
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 Familial adult myoclonic epilepsy — check Associations / patient organisations on that page.
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.
"Familial adult myoclonic epilepsy" OR "ADCME" OR "Autosomal dominant cortical myoclonus and epilepsy" OR "BAFME" OR "Benign adult familial myoclonus epilepsy" OR "FCMTE" OR "Familial cortical myoclonic tremor and epilepsy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial adult myoclonic epilepsy" OR "ADCME" OR "Autosomal dominant cortical myoclonus and epilepsy" OR "BAFME" OR "Benign adult familial myoclonus epilepsy" OR "FCMTE" OR "Familial cortical myoclonic tremor and epilepsy"
Study-type breakdown: 0 interventional · 0 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: FAME
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 2026-07-27T03:05:57.016Z