RARE DISEASERESEARCH ATLAS
Open navigation menu

ORPHA:599373

STXBP1-related developmental and epileptic encephalopathy

medium confidenceDisorder

Also known as: STXBP1-related encephalopathy

Publications

597

90.8th percentile

Trials

3

Interventional, condition-specific

Researchers

1,706

Distinct authors in sample

Gene link

STXBP1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic neurological disorder characterized by a phenotypic spectrum comprising severe , , and, in the majority of cases, early-onset . The most frequent seizure type are epileptic spasms, but a broad spectrum of seizure types has been reported. Motor disturbances include , , dystonia, tremor, spasticity, and dyskinesia. Some patients may also present with autism/autistic-like features. Older patients have been reported to show signs of parkinsonism, including tremor, bradykinesia, and antecollis.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (9)

DEE4 · EIEE4 · STXBP1 early infantile epileptic encephalopathy · developmental and epileptic encephalopathy 4 · developmental and epileptic encephalopathy, 4 · early infantile epileptic encephalopathy 4 · early infantile epileptic encephalopathy caused by mutation in STXBP1 · epileptic encephalopathy, early infantile, 4 · epileptic encephalopathy, early infantile, type 4

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

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

  1. Gene identifiedPresent

    Definitive — STXBP1

  2. LiteraturePresent

    597 matched papers (550 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

    3 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 (STXBP1).

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?

597

597 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.

597 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).

550 in the last 10 years · medium confidence · 90.8th percentile (publications denominator)

Phrase hits: 597 · MeSH hits: 1

Open Europe PMC search

Who's working on it?

1,706

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
    Nelson PT7 papers · 2026

    Department of Pathology, University of Kentucky, Lexington, KY, USA.

    Papers in Europe PMC
  2. 02
    Ossenkoppele R6 papers · 2026

    Alzheimer Center Amsterdam, Neurology, , , ,

    Papers in Europe PMC
  3. 03
    Wesseling A5 papers · 2026

    Alzheimer Center Amsterdam, Neurology, , , ,

    Papers in Europe PMC
  4. 04
    Zhang X5 papers · 2025

    Department of Neurology, Qingdao Central Hospital, University of Health and Rehabilitation Sciences, Qingdao, China.

    Papers in Europe PMC
  5. 05
    Zhang Y5 papers · 2026

    Department of Neurology and National Center for Neurological Disorders, Huashan Hospital, State Key Laboratory of Medical Neurobiology and MOE Frontiers Center for Brain Science, Shanghai Medical College, Fudan University, Shanghai, China.

    Papers in Europe PMC
  6. 06
    Barkhof F4 papers · 2026

    , Neurodegeneration, ,

    Papers in Europe PMC
  7. 07
    Li X4 papers · 2026

    Department of Neurology, Michigan Medicine, University of Michigan, Ann Arbor, MI, USA.

    Papers in Europe PMC
  8. 08
    Pijnenburg YAL4 papers · 2026

    Alzheimer Center Amsterdam, Neurology, , , ,

    Papers in Europe PMC
  9. 09
    Wang J4 papers · 2026

    Department of Neurology and Centre for Clinical Neuroscience, Daping Hospital, Third Military Medical University, Chongqing, China.

    Papers in Europe PMC
  10. 10
    Wang Y4 papers · 2026

    Department of Radiology & Biomedical Imaging, Weill Institute for Neurosciences, University of California San Francisco, San Francisco, California, US.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; none in our sample are currently recruiting. 12 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

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

medium confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 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.

Broader category: developmental and epileptic encephalopathy

12

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

6 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.

"STXBP1-related developmental and epileptic encephalopathy" OR "STXBP1-related encephalopathy" OR "EIEE4" OR "STXBP1 early infantile epileptic encephalopathy" OR "developmental and epileptic encephalopathy 4" OR "developmental and epileptic encephalopathy, 4" OR "early infantile epileptic encephalopathy 4" OR "early infantile epileptic encephalopathy caused by mutation in STXBP1" OR "epileptic encephalopathy, early infantile, 4" OR "epileptic encephalopathy, early infantile, type 4"

Run this search on Europe PMC

MeSH descriptor terms unioned into the query: Epileptic Encephalopathy, Early Infantile, 4

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

"STXBP1-related developmental and epileptic encephalopathy" OR "STXBP1-related encephalopathy" OR "EIEE4" OR "STXBP1 early infantile epileptic encephalopathy" OR "developmental and epileptic encephalopathy 4" OR "developmental and epileptic encephalopathy, 4" OR "early infantile epileptic encephalopathy 4" OR "early infantile epileptic encephalopathy caused by mutation in STXBP1" OR "epileptic encephalopathy, early infantile, 4" OR "epileptic encephalopathy, early infantile, type 4" OR "STXBP1"

Recall-expansion terms: STXBP1

Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 3 interventional · 6 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, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion

Run this search on ClinicalTrials.gov

Synonyms dropped by stoplist: DEE4

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 2026-07-27T18:56:55.626Z