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ORPHA:599373

STXBP1-related developmental and epileptic encephalopathy

medium confidenceDisorder

Also known as: STXBP1-related encephalopathy

Publications

3,039

91.1th percentile

Trials

0

Interventional, condition-specific

Researchers

1,706

Distinct authors in sample

Gene link

STXBP1

Definitive

Readiness

4/6

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.”

4/6 stages with a signal

No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.

  1. Gene identifiedPresent

    Definitive — STXBP1

  2. LiteraturePresent

    3,039 matched papers (2,359 in last 10 years) Source

  3. Phenotype characterisedPresent

    55 HPO annotations (e.g. Severe intellectual disability; Infantile encephalopathy; Cerebral atrophy) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPartial

    None under the specific name; 14 for broader category developmental and epileptic encephalopathy

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)

55

Associated phenotypes · MONDO:0012812

  • Severe intellectual disability
  • Infantile encephalopathy
  • Cerebral atrophy
  • Spastic tetraplegia
  • Absent speech

Showing 5 of 55 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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)

No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.

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?

3,039

3,039 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.

3,039 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).

2,359 in the last 10 years · medium confidence · 91.1th 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?

No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.

  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?

0

interventional trials for this specific condition

No interventional trial testing a treatment matched this specific condition name on ClinicalTrials.gov (observational studies and pan-disease registries are listed separately when present). 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 11 September 2026 · last trial check 11 September 2026

No matched interventional trials. This is true for 77.2% of diseases in the trials denominator (5501 of 7126). Here are the researchers publishing on it.

medium confidence · 38.6th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.

14 interventional trials matched developmental and epileptic encephalopathy, the broader category — listed below. Those studies are not counted in the condition-specific total.

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

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 0 · after dedupe 0 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 0 · dropped 0 · fetched 2026-07-30

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).

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 STXBP1-related developmental and epileptic encephalopathy — 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.

("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 (MESH:"Epileptic Encephalopathy, Early Infantile, 4") OR ("STXBP1" OR "STXBP1 syndrome" OR "STXBP1-related")

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"

Study-type breakdown: 0 interventional · 0 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; with hits: phrase, mesh

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