RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:1942

Epilepsy with myoclonic-atonic seizures

low confidenceDisorder

Also known as: Doose syndrome · EMAS · EMAtS · Epilepsy with myoclonic-astatic seizures · MAE · Myoclonic atonic epilepsy · Myoclonic-astatic epilepsy in early childhood

Publications

2,860

Trials

1

Interventional, condition-specific

Researchers

1,488

Distinct authors in sample

Gene link

SLC6A1

Definitive

Readiness

6/6

Stages with a signal

Clinical definition (Orphanet)

A rare, childhood-onset syndrome characterized by multiple seizure types including myoclonic-atonic (MA) that occur usually in previously healthy children.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.

Additional Mondo synonyms (7)

Myoclonic Atonic Epilepsy · epilepsy with myoclonic atonic seizures · epilepsy with myoclonic-astatic seizures · epilepsy with myoclonic-atonic seizures · myoclonic atonic epilepsy · myoclonic-astatic epilepsy in early childhood · myoclonic-atonic 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.”

6/6 stages with a signal

An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.

  1. Gene identifiedPresent

    Definitive — SLC6A1

  2. LiteraturePresent

    2,860 matched papers (2,014 in last 10 years) Source

  3. Phenotype characterisedPresent

    58 HPO annotations (e.g. Thick nasal alae; Prominent forehead; Atonic seizure) Source

  4. Animal modelPresent

    1 genotype model (Danio rerio) Source

  5. Orphan designationPartial

    1 EMA designation (none yet with FDA orphan-indication approval) — e.g. cannabidiol Source

  6. Interventional trialPresent

    1 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?

Yes — we know a specific gene responsible (SLC6A1).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

58

Associated phenotypes · MONDO:0016025

  • Thick nasal alae
  • Prominent forehead
  • Atonic seizure
  • Ataxia
  • EEG with irregular generalized spike and wave complexes

Showing 5 of 58 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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)

1

Designation · no FDA orphan-indication approval yet

  • EMA cannabidiolTreatment of epilepsy with myoclonic-atonic seizures · 13/04/2022 · PositiveEMA designation

Sources: FDA OOPD · EMA orphan designations

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?

2,860

2,860 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.

2,860 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).

2,014 in the last 10 years · low confidence

Phrase hits: 934 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,488

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
    Møller RS12 papers · 2026

    Danish Epilepsy Centre, 4293 Dianalund, Denmark; Institute for Regional Health Services, University of Southern Denmark, Odense 5230, Denmark.

    Papers in Europe PMC
  2. 02
    Specchio N10 papers · 2026

    Division of Neurology, Department of Neuroscience, Bambino Gesù Children's Hospital IRCCS, Rome 00165, Italy.

    Papers in Europe PMC
  3. 03
    Scheffer IE9 papers · 2026

    Epilepsy Research Centre, Department of Medicine, University of Melbourne at Austin Health, Heidelberg, VIC 3084, Australia; Department of Paediatrics, University of Melbourne and Royal Children's Hospital, Parkville, VIC 3052, Australia; Florey Institute of Neuroscience and Mental Health, Melbourne, VIC 3084, Australia. Electronic address: scheffer@unimelb.edu.au.

    Papers in Europe PMC
  4. 04
    Auvin S8 papers · 2026

    INSERM NeuroDiderot, DMU Innov-RDB, Neurologie Pédiatrique, AP-HP, Hôpital Robert-Debré, Member of European Reference Network EpiCARE, Université de Paris, Paris, France.

    Papers in Europe PMC
  5. 05
    Guerrini R7 papers · 2026

    From the Departments of Neurology and Epileptology (N.S., S.S., U.B.S.H., H.L., Y.W.) and Neurodegenerative Diseases (E.L.), Hertie-Institute for Clinical Brain Research, University of Tübingen; Institute of Clinical Molecular Biology (M.P., I.H.), Christian-Albrechts-University of Kiel; Departments of Neuropediatrics (M.P., A.V.R., H.M., I.H.) and Pediatrics I (A.V.R.), University Medical Center Schleswig-Holstein, Christian-Albrechts-University, Kiel; Cologne Center for Genomics (T.B., D.L.), University of Cologne, Germany; Epilepsy Center SEIN (P.B.A.), Heemstede, the Netherlands; Epilepsiezentrum Bodensee (H.B.), Weissenau, Germany; Department of Genetics and Precision Medicine (A.B.), Danish Epilepsy Centre, Dianalund, Denmark; IRCCS Istituti delle Scienze Neurologiche di Bologna (F.B., L.L., R.M., P.T.); Department of Biomedical and Neuromotor Sciences (F.B., L.L., P.T.), University of Bologna, Italy; Department of Biomedical Sciences (R.J.B.), Cooper Medical School of Rowan University, Camden, NJ; Pediatric Neurology Unit (B.Z.B., G.H.), Edmond and Lily Safra Children's Hospital, Chaim Sheba Medical Center, Ramat Gan; Sackler School of Medicine (B.Z.B., G.H.), Tel Aviv University, Israel; FutureNeuro SFI Research Centre (M.G.D., H.K.) and Department of Neurology, Beaumont Hospital (M.G.D., H.K.), Royal College of Surgeons in Ireland; StAR MD Programme (M.G.D.), Royal College of Surgeons in Ireland in collaboration with Blackrock Clinic, Dublin, Ireland; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, and Department of Neuroscience (R.G., A.V.), A. Meyer Children's Hospital, University of Florence; IRCCS Istituto Giannina Gaslini (M.I., P. Striano), Genova, Italy; Epilepsy Center Frankfurt Rhine-Main, Department of Neurology (K.M.K., P.S.R., F. Rosenow), University Hospital Frankfurt; LOEWE Center for Personalized Translational Epilepsy Research (CePTER) (K.M.K., P.S.R., F. Rosenow), Goethe-University Frankfurt, Germany; Departments of Clinical Neurosciences, Medical Genetics, and Community Health Sciences (K.M.K.), Hotchkiss Brain Institute & Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Canada; Department of Neurobiology and Epilepsy Center (I.K., S.S.P.), The Cyprus Institute of Neurology and Genetics, Nicosia; Institute of Experimental Epileptology and Cognition Research and Department of Epileptology (W.S.K.), University of Bonn, Germany; Division of Medical Genetics, Department of Pediatrics (M.M., S.M.), Duke University, Durham, NC; CeGaT GmbH and Praxis für Humangenetik Tübingen (L.M.), Germany; Division Biomedical Genetics (R.O.), University Medical Center Utrecht, the Netherlands; The Genomic Unit, Sheba Cancer Research Center (B.O.), Cancer Research Center, Wohl Institute for Translational Medicine (B.O.), and The Institute for Rare Diseases, The Edmond and Lily Safra Children's Hospital (A.R.), Sheba Medical Center, Tel Hashomer, Israel; Medical School (S.S.P.), University of Nicosia, Cyprus; Department of Pediatric Neuroscience (F. Ragona, T.G.), Fondazione IRCCS Istituto Neurologico Carlo Besta, Member of the ERN EpiCARE, Milan, Italy; Sheba Medical Center, Tel-Hashomer; Sackler Faculty of Medicine (A.R.), Tel Aviv University, Israel; Departments of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health (P. Scudieri, P. Striano, F. Zara), University of Genova, Italy; Clinical Genetics and Genomics Department (G.A.T.), The Cyprus Institute of Neurology and Genetics, Nicosia; Department of Neurology (F. Zahnert), Epilepsy Center Hessen, Philipps-University Marburg, Germany; Division of Neurology (E.M.G., I.H.), The Epilepsy NeuroGenetics Initiative (ENGIN) (E.M.G., I.H.), and Department of Biomedical and Health Informatics (DBHi) (I.H.), Children's Hospital of Philadelphia, PA; Epilepsy Center, Neurological Institute (D.L.), and Genomic Medicine Institute, Lerner Research Insti

    Papers in Europe PMC
  6. 06
    Johannesen KM7 papers · 2025

    Department of Epilepsy Genetics and Precision Medicine, Danish Epilepsy Center, Member of the European Reference Network EpiCARE, Dianalund, Denmark.

    Papers in Europe PMC
  7. 07
    Joshi C7 papers · 2024

    University of Colorado Denver, Department of Pediatrics, Section of Neurology, United States.

    Papers in Europe PMC
  8. 08
    Striano P7 papers · 2026

    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova and Giannina Gaslini Institute, Genova 16148, Italy.

    Papers in Europe PMC
  9. 09
    Trivisano M7 papers · 2026

    Clinical and Experimental Neurology, Bambino Gesù Children's Hospital, IRCCS, Full Member of European Reference Network EpiCARE, Rome, Italy.

    Papers in Europe PMC
  10. 10
    Wang J7 papers · 2026

    State Key Laboratory of Performance Monitoring Protecting of Rail Transit Infrastructure, East China Jiaotong University, Nanchang 330013, China; School of Electrical and Automation Engineering, East China Jiaotong University, Nanchang 330013, China.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; none in our sample are currently recruiting.

Data as of 11 September 2026 · last trial check 28 July 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

low confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 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

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.

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 1 · after dedupe 1 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 1 · dropped 0 · fetched 2026-07-29

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 (1)

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 Epilepsy with myoclonic-atonic seizures — 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.

("Epilepsy with myoclonic-atonic seizures" OR "Doose syndrome" OR "EMAtS" OR "Epilepsy with myoclonic-astatic seizures" OR "Myoclonic atonic epilepsy" OR "Myoclonic-astatic epilepsy in early childhood" OR "epilepsy with myoclonic atonic seizures" OR "myoclonic-atonic epilepsy") OR ("SLC6A1" OR "SLC6A1 syndrome" OR "SLC6A1-related")

Run this search on Europe PMC

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

"Epilepsy with myoclonic-atonic seizures" OR "Doose syndrome" OR "EMAtS" OR "Epilepsy with myoclonic-astatic seizures" OR "Myoclonic atonic epilepsy" OR "Myoclonic-astatic epilepsy in early childhood" OR "epilepsy with myoclonic atonic seizures" OR "myoclonic-atonic 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: 1 interventional · 1 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

Synonyms dropped by stoplist: EMAS; MAE

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (2860) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T18:33:58.980Z