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ORPHA:1934

Early infantile developmental and epileptic encephalopathy

low confidenceDisorder

Also known as: EIDEE · Early infantile epileptic encephalopathy with suppression-bursts · Ohtahara syndrome

Publications

7,365

Trials

2

Interventional, condition-specific

Researchers

1,329

Distinct authors in sample

Gene link

—

Readiness

2/6

Stages with a signal

Clinical definition (Orphanet)

A severe form of age-related epileptic encephalopathies characterized by the onset of tonic spasms within the first 3 months of life that can be generalized or lateralized, independent of the sleep cycle, and that can occur hundreds of times per day, leading to psychomotor impairment and death.

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.

Additional Mondo synonyms (10)

EIEE · EME · early infantile epileptic encephalopathy · early infantile epileptic encephalopathy with suppression-bursts · early myoclonic encephalopathy · early myoclonic encephalopathy with suppression-bursts · early-infantile developmental and epileptic encephalopathy syndrome · epileptic encephalopathy, early infantile · epileptic encephalopathy, infantile · infantile epileptic encephalopathy

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

    7,365 matched papers (5,667 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

    2 matched on ClinicalTrials.gov (1 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?

7,365

7,365 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.

7,365 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).

5,667 in the last 10 years · low confidence

Phrase hits: 7,365 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,329

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
    Bai Y4 papers · 2026

    Key Laboratory of Resource Biology and Biotechnology in Western China, Ministry of Education, The College of Life Sciences, Northwest University, Xi'an 710069, P.R. China.

    Papers in Europe PMC
  2. 02
    Perry MS4 papers · 2026

    Cook Children's Medical Center, Fort Worth, TX, USA. Electronic address: Scott.Perry@cookchildrens.org.

    Papers in Europe PMC
  3. 03
    Riva A4 papers · 2026

    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.

    Papers in Europe PMC
  4. 04
    Striano P4 papers · 2026

    Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.

    Papers in Europe PMC
  5. 05
    Aledo-Serrano A3 papers · 2026

    Epilepsy Unit, Clinical Neuroscience Institute, Vithas Madrid University Hospitals, Madrid, Spain.

    Papers in Europe PMC
  6. 06
    Battaglia DI3 papers · 2026

    Dipartimento della Salute della Donna, del Bambino e di Sanità Pubblica, Fondazione Policlinico Universitario Agostino Gemelli, IRCCS, Roma, Italy; Department of Health Science and Public Health, Università Cattolica del Sacro Cuore, Italy. Electronic address: domenicaimmacolata.battaglia@policlinicogemelli.it.

    Papers in Europe PMC
  7. 07
    Chen C3 papers · 2026

    Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

    Papers in Europe PMC
  8. 08
    Goldberg EM3 papers · 2026

    Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.

    Papers in Europe PMC
  9. 09
    Grinspan ZM3 papers · 2025

    Weill Cornell Medicine, New York, New York, USA.

    Papers in Europe PMC
  10. 10
    Hood V3 papers · 2026

    Epilepsy Division, Dravet Syndrome Foundation, Cherry Hill, New Jersey.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

2

interventional trials for this specific condition

2 interventional trials matched this specific condition name; 1 currently recruiting in our sample. 14 trials are registered for developmental and epileptic encephalopathy, the broader category — shown separately because they may or may not enrol this specific subtype.

Data as of 27 July 2026

2 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 82.4th percentile).

low confidence · 82.4th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

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

Broader category: developmental and epileptic encephalopathy

14

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

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.

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.

"Early infantile developmental and epileptic encephalopathy" OR "EIDEE" OR "Early infantile epileptic encephalopathy with suppression-bursts" OR "Ohtahara syndrome" OR "early infantile epileptic encephalopathy" OR "early myoclonic encephalopathy" OR "early myoclonic encephalopathy with suppression-bursts" OR "early-infantile developmental and epileptic encephalopathy syndrome" OR "epileptic encephalopathy, early infantile" OR "epileptic encephalopathy, infantile" OR "infantile epileptic encephalopathy"

Run this search on Europe PMC

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

"Early infantile developmental and epileptic encephalopathy" OR "EIDEE" OR "Early infantile epileptic encephalopathy with suppression-bursts" OR "Ohtahara syndrome" OR "early infantile epileptic encephalopathy" OR "early myoclonic encephalopathy" OR "early myoclonic encephalopathy with suppression-bursts" OR "early-infantile developmental and epileptic encephalopathy syndrome" OR "epileptic encephalopathy, early infantile" OR "epileptic encephalopathy, infantile" OR "infantile epileptic encephalopathy"

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.

Parent-category trials query:

"developmental and epileptic encephalopathy"

Query health: ok — strategies attempted: phrase; with hits: phrase

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: EIEE; EME

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • "early myoclonic encephalopathy" also appears on ORPHA:1935
  • "early myoclonic encephalopathy with suppression-bursts" also appears on ORPHA:1935

Ingested 2026-07-26T18:33:12.367Z