ORPHA:352582
Familial infantile myoclonic epilepsy
Also known as: FIME · Familial infantile myoclonus epilepsy
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
839
90.9th percentile
Trials
0
Interventional, condition-specific
Researchers
1,523
Distinct authors in sample
Gene link
TBC1D24
Definitive
Readiness
3/6
Stages with a signal
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011506
- OMIM:605021
- UMLS:C0917800
Additional Mondo synonyms (2)
familial infantile myoclonus epilepsy · myoclonic epilepsy, infantile, familial
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 identifiedPresent
Definitive — TBC1D24
- LiteraturePresent
839 matched papers (558 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 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?
Yes — we know a specific gene responsible (TBC1D24).
GenCC classification: Definitive.
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?
839
839 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.
839 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).
558 in the last 10 years · medium confidence · 90.9th percentile (publications denominator)
Phrase hits: 839 · MeSH hits: 0
Who's working on it?
1,523
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.
- 01Wang X9 papers · 2026
Department of Neonatology, Anhui Women and Children's Medical Center, No. 15, Yimin Street, Hefei, 230001, Anhui, China.
Papers in Europe PMC - 02Howell KB6 papers · 2026
Murdoch Children's Research Institute, Melbourne, Australia.
Papers in Europe PMC - 03Liu Y6 papers · 2025
From the Departments of Pediatrics/Child Neurology (Y.L., D.M.) and Pediatric Genetics (R.C., J.-A.G.), Loma Linda University Children's Hospital, CA. yiliu@llu.edu.
Papers in Europe PMC - 04Scheffer IE6 papers · 2026
Murdoch Children's Research Institute, Melbourne, Australia.
Papers in Europe PMC - 05Gardella E5 papers · 2025
Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, Dianalund, Denmark.
Papers in Europe PMC - 06McTague A5 papers · 2026
Neurosciences Unit, University College London, Institute of Child Health, London, UK.
Papers in Europe PMC - 07Poduri A5 papers · 2026
Children's Rare Disease Collaborative, Boston Children's Hospital, MA.
Papers in Europe PMC - 08Wang Y5 papers · 2025
Fifth Affiliated Hospital, Sun Yat-sen University-BGI Laboratory, Department of Experimental Medicine, Fifth Affiliated Hospital, Sun Yat-sen University, Zhuhai, China.
Papers in Europe PMC - 09Zhang Y5 papers · 2026
Department of Pediatrics, Peking University First Hospital, No. 1 of Xian Men Street, Xicheng District, Beijing, 100034, China. Electronic address: zhangyhdr@126.com.
Papers in Europe PMC - 10Cross JH4 papers · 2026
Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
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 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
medium confidence · 36.5th 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
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.
"Familial infantile myoclonic epilepsy" OR "Familial infantile myoclonus epilepsy" OR "myoclonic epilepsy, infantile, familial"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Familial infantile myoclonic epilepsy" OR "Familial infantile myoclonus epilepsy" OR "myoclonic epilepsy, infantile, familial" OR "TBC1D24"
Recall-expansion terms: TBC1D24
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: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: FIME
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 2026-07-27T14:14:14.250Z