ORPHA:139431
Epilepsy with eyelid myoclonia
Also known as: EMA · EMEA · Eyelid myoclonia with and without absences · Jeavons syndrome
Clinical definition (Orphanet)
A rare, generalized form of reflex characterized by childhood onset, unique seizure manifestations, striking light sensitivity, and possible occurrence of generalized tonic-clonic . It is currently classified among genetic generalized (GGEs) syndromes and kept distinct from generalized epilepsies.
How rare: How common this is has not been clearly measured.
Is anyone studying this?
273
273 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=183) is 38.
273 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
220 in the last 10 years · medium confidence · 82.2th percentile (publications denominator)
Is a treatment being tested?
2
trials for this specific condition
2 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 26 July 2026
2 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 74.7th percentile).
medium confidence · 74.7th percentile (trials denominator)
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.
Who's working on it?
1,299
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.
- 01Zawar I10 papers · 2024
Epilepsy Center, Neurological Institute, Cleveland Clinic, Cleveland, OH 44195, USA; Department of Neurology, School of Medicine, University of Virginia, Charlottesville, VA 22908, USA. Electronic address: ifrah.zawar@gmail.com.
Papers in Europe PMC - 02Scheffer IE9 papers · 2025
18 Department of Medicine, University of Melbourne, Austin Health, Melbourne, Australia 29 Florey Institute of Neurosciences and Mental Health, and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Melbourne, Australia s.sisodiya@ucl.ac.uk scheffer@unimelb.edu.au hmefford@uw.edu b.p.c.koeleman@umcutrecht.nl.
Papers in Europe PMC - 03Wirrell EC9 papers · 2026
Department of Neurology (SA, GW, JB, ECW, KCN, GDC, DB), Mayo Clinic, Rochester, MN; Department of Neurology (KN), Mayo Clinic, Scottsdale, AZ; and Department of Neurology (AR), Mayo Clinic, Jacksonville, FL.
Papers in Europe PMC - 04Striano P8 papers · 2024
From the Department of Neuromuscular Disorders (A.C.-H., T.L., B.A., R.K., R.M., S.E., H.H.); Department of Clinical and Experimental Epilepsy (A.C.-H.), UCL Queen Square Institute of Neurology; The Francis Crick Institute (A.C.-H.), London, United Kingdom; Cyprus Paediatric Neurology Institute (S.S., P.N.), Nicosia, Cyprus; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (M. Scala, P.S.), Università Degli Studi di Genova; U.O.C. Genetica Medica (M. Scala, F.Z.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Neurosciences, Pediatric Psychiatry and Neurology (P.B.), Santobono-Pausilipon Children's Hospital, Naples, Italy; Medical Genetics Unit (F.M.), IRCCS Istituto Giannina Gaslini, Genoa, Italy; Department of Paediatric Neurology (S.B.), Tbilisi State Medical University, GA; Department of Pediatric Neurology (V.M.S., V.G.), Indira Gandhi Institute of Child Health, Bangalore, India; MediClub Hospital (U.G.), Baku, Azerbaijan; Department of Clinical and Functional Neurology (A.M., A.-L.P., C.B., D.M.V.), University Hospital of Lyon, Pierre-Bénite, France; Division of Pediatric Neurology (A.G., H.P.), Department of Pediatrics, Faculty of Medicine, Erciyes University, Kayseri, Turkey; Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology (J. de Bellescize), University Hospitals of Lyon; Pediatric and Fetal Imaging Department (S.C.), Femme-Mere-Enfant Hospital, Hospices Civils de Lyon, Claude Bernard Lyon 1 University, France; Department of Neuropediatrics (A.W.), Jena University Hospital, Jena, Germany; MVZ Mitteldeutscher Praxisverbund Humangenetik GmbH (A.S.), Johannesstr. 147, Erfurt, Germany; Pediatric Neurology Unit (A.R.-P.), Pediatrics Department, Hospital Universitari Germans Trias I Pujol, Universitat Autonoma de Barcelona, Spain; Department of Genetics (N.C., G.L.), Hospices Civils de Lyon, France; NeuroMyoGene Institute (N.C., G.L.), CNRS UMR 5261-INSERM U1315, Claude Bernard Lyon 1 University, France; Hunter Genetics (H.G.), Waratah, NSW 2298, Australia; University of Newcastle, Callaghan, NSW 2308, Australia; John Hunter Children's Hospital (J. Brown), Australia; Institute of Medical Genetics (T.F., K.S., A.R.), University of Zurich, Zurich, Switzerland; (A.R.), University Children's Hospital Zurich; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, AdaBD: Adaptive Brain Circuits in Development and Learning, Switzerland; Neuroradiology Unit (M. Severino.), IRCCS Giannina Gaslini Institute, Genoa, Italy; University of Nicosia Medical School (P.N.), Nicosia, Cyprus.
Papers in Europe PMC - 05Coppola A7 papers · 2026
1 NIHR Biomedical Research Centre Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK 2 Epilepsy Society, Bucks, UK 17 Epilepsy Centre, Neurology Department, Federico II University of Naples, Naples, Italy.
Papers in Europe PMC - 06Smith KM7 papers · 2026
Department of Neurology, Mayo Clinic, Rochester, Minnesota.
Papers in Europe PMC - 07Crespel A6 papers · 2025
Epilepsy Unit, Hôpital Gui de Chauliac, Montpellier, France; Research Unit (URCMA: Unité de Recherche sur les Comportements et Mouvements Anormaux), INSERM, U661, Montpellier F-34000, France.
Papers in Europe PMC - 08Sisodiya SM6 papers · 2025
1 NIHR Biomedical Research Centre Department of Clinical and Experimental Epilepsy, UCL Institute of Neurology, National Hospital for Neurology and Neurosurgery, Queen Square, London, UK 2 Epilepsy Society, Bucks, UK s.sisodiya@ucl.ac.uk scheffer@unimelb.edu.au hmefford@uw.edu b.p.c.koeleman@umcutrecht.nl.
Papers in Europe PMC - 09Balestrini S5 papers · 2026
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Papers in Europe PMC - 10Baykan B5 papers · 2025
EMAR Medical Center, Department of Neurology, 34367 Istanbul, Türkiye.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
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.
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 below but are not added to the query string.
"Epilepsy with eyelid myoclonia" OR "Eyelid myoclonia with and without absences" OR "Jeavons syndrome" OR "epilepsy with eyelid myoclonias"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Epilepsy with eyelid myoclonia" OR "Eyelid myoclonia with and without absences" OR "Jeavons syndrome" OR "epilepsy with eyelid myoclonias" OR "childhood-onset genetic generalized epilepsy syndrome" OR "childhood-onset epilepsy syndrome" OR "genetic generalized epilepsy"
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: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): UMLS:C4274731
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: EMA; EMEA; EEM
Confidence reasoning
- Preferred label is multi-word and distinctive
- 3 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus