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ORPHA:289266

Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

high confidenceDisorder

Publications

9

26.3th percentile

Trials

1

Interventional, condition-specific

Researchers

117

Distinct authors in sample

Gene link

GRIN2A

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

Early-onset epileptic and due to GRIN2A mutation is a rare and syndrome characterized by global and mild to profound , multiple types of usually intractable focal and generalized with variable abnormal EEG findings, and bilateral parenchymal volume loss and thin corpus callosum on brain MRI.

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 (2)

early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation · epilepsy, focal, with speech disorder and with or without impaired intellectual development

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

    Strong — GRIN2A

  2. LiteraturePresent

    9 matched papers (9 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

    1 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?

Yes — we know a specific gene responsible (GRIN2A).

GenCC classification: Strong.

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?

9

9 papers have ever been indexed under this name. For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.

9 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).

9 in the last 10 years · high confidence · 26.3th percentile (publications denominator)

Phrase hits: 9 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

117

Distinct author names in 9 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
    Bhat V2 papers · 2024

    Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

    Papers in Europe PMC
  2. 02
    Chen L2 papers · 2025

    Division of Immunology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

    Papers in Europe PMC
  3. 03
    Abhyankar A1 paper · 2023

    Molecular Diagnostics, New York Genome Center, New York, New York, USA.

    Papers in Europe PMC
  4. 04
    Abul-Husn NS1 paper · 2023

    Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

    Papers in Europe PMC
  5. 05
    Aroor S1 paper · 2024

    Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

    Papers in Europe PMC
  6. 06
    Basiaga ML1 paper · 2022

    Division of Pediatric Rheumatology, Department of Pediatrics, Mayo Clinic, Rochester, MN, USA.

    Papers in Europe PMC
  7. 07
    Bhat YR1 paper · 2024

    Department of Paediatrics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India.

    Papers in Europe PMC
  8. 08
    Bielas S1 paper · 2024

    Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan, USA.

    Papers in Europe PMC
  9. 09
    Böhme D1 paper · 2024

    Rare Diseases Program, Center for Genetics and Genomics, Institute of Sciences and Innovation in Medicine, Facultad de Medicina, Clínica Alemana Universidad del Desarrollo, Santiago, Chile.

    Papers in Europe PMC
  10. 10
    Bonini KE1 paper · 2023

    Institute for Genomic Health, Icahn School of Medicine at Mount Sinai, New York, New York, USA.

    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; 1 currently recruiting in our sample.

Data as of 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th 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.

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-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" OR "epilepsy, focal, with speech disorder and with or without impaired intellectual development"

Run this search on Europe PMC

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

"Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation" OR "epilepsy, focal, with speech disorder and with or without impaired intellectual development" OR "GRIN2A"

Recall-expansion terms: GRIN2A

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: 1 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion

Run this search on ClinicalTrials.gov

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • No synonyms dropped by stoplist
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-27T12:11:04.910Z