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ORPHA:33069

Dravet syndrome

low confidenceDisorder

Also known as: SMEI · Severe myoclonic epilepsy of infancy · Severe myoclonus epilepsy of infancy

Publications

6,681

Trials

51

Interventional, condition-specific

Researchers

1,209

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A rare, genetic, developmental and epileptic characterized by onset of intractable that are often febrile, and associated with cognitive and motor impairment.

How rare: 1-9 / 100 000 — about one to nine people per hundred thousand.

Orphanet entry

Cross-references

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

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    6,681 matched papers (5,209 in last 10 years) Source

  3. Phenotype characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  6. Interventional trialPresent

    51 matched on ClinicalTrials.gov (13 recruiting in sample)

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?

6,681

6,681 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

6,681 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).

5,209 in the last 10 years · low confidence

Phrase hits: 6,681 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,209

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
    Brunklaus A6 papers · 2026

    School of Health and Wellbeing, Royal Hospital for Children, University of Glasgow, Glasgow, UK.

    Papers in Europe PMC
  2. 02
    Cross JH6 papers · 2026

    UCL NIHR BRC Great Ormond Street Institute of Child Health, London, UK.

    Papers in Europe PMC
  3. 03
    Nabbout R6 papers · 2026

    Reference Centre for Rare Epilepsies, Department of Pediatric Neurology, Hopital Necker Enfants Malades, Member of European Network EPICARE, INSERM, UMR 1163, Translational Research for Neurological Disorders, Insititut Imagine, Université Paris cité, Paris, France.

    Papers in Europe PMC
  4. 04
    Perry MS6 papers · 2026

    Jane and John Justin Institute for Mind Health, Cook Children's Medical Center, Ft. Worth, TX, USA. Electronic address: scott.perry@cookchildrens.org.

    Papers in Europe PMC
  5. 05
    Scheffer IE6 papers · 2026

    University of Melbourne, Austin Health and Royal Children's Hospital, Melbourne, Victoria, Australia.

    Papers in Europe PMC
  6. 06
    Striano P6 papers · 2026

    Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, "G. Gaslini" Institute, University of Genoa, Genoa, Italy.

    Papers in Europe PMC
  7. 07
    Strzelczyk A6 papers · 2026

    Epilepsiezentrum Frankfurt Rhein-Main, Zentrum der Neurologie Und Neurochirurgie, Universitätsmedizin Frankfurt, Goethe-Universität Frankfurt, Frankfurt am Main, Germany.

    Papers in Europe PMC
  8. 08
    Goldberg EM5 papers · 2026

    Division of Neurology, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States.

    Papers in Europe PMC
  9. 09
    Hood V5 papers · 2026

    Dravet Syndrome Foundation, Cherry Hill, NJ, USA.

    Papers in Europe PMC
  10. 10
    Lal D5 papers · 2026

    Cleveland Clinic Lerner Research Institute, Cleveland, Ohio, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

51

interventional trials for this specific condition

51 interventional trials matched this specific condition name; 13 currently recruiting in our sample.

Data as of 27 July 2026

51 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 97.1th percentile).

low confidence · 97.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

51 interventional trials matched after quoted-phrase search and title/condition post-filter.

Observational and natural-history studies

19 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.

Recruiting or not-yet-recruiting

Open the complete matched search on ClinicalTrials.gov

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 2026-07-26

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.

"Dravet syndrome" OR "Severe myoclonic epilepsy of infancy" OR "Severe myoclonic epilepsy of the infancy" OR "Severe myoclonus epilepsy of infancy" OR "Severe myoclonus epilepsy of the infancy"

Run this search on Europe PMC

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

"Dravet syndrome" OR "Severe myoclonic epilepsy of infancy" OR "Severe myoclonic epilepsy of the infancy" OR "Severe myoclonus epilepsy of infancy" OR "Severe myoclonus epilepsy of the infancy"

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: 51 interventional · 19 observational · 8 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: SMEI

Confidence reasoning

  • Preferred label is short or not clearly distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T23:32:02.137Z