ORPHA:442835
Non-specific early-onset epileptic encephalopathy
Also known as: Non-specific EOEE · Undetermined EOEE · Undetermined early-onset epileptic encephalopathy
Publications
10
26.3th percentile
Trials
1
Interventional, condition-specific
Researchers
88
Distinct authors in sample
Gene link
AARS1, CACNA1A, YWHAG
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare syndrome characterized by early onset of of variable type and severity, potentially associated with a spectrum of clinical signs and symptoms including delay or lack of psychomotor development, , poor or absent speech development, behavioral abnormalities, , movement disorders, spasticity, microcephaly, and facial features, among others. Brain imaging findings are also variable and may include cerebral atrophy or white matter abnormalities.
How rare: How common this is has not been clearly measured.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018614
- UMLS:C5680057
Additional Mondo synonyms (3)
non-specific early-onset epileptic encephalopathy · undetermined EOEE · undetermined early-onset 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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Definitive — AARS1, CACNA1A, YWHAG
- LiteraturePresent
10 matched papers (9 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- 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 (AARS1, CACNA1A, YWHAG).
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?
10
10 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.
10 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: 10 · MeSH hits: 0
Who's working on it?
88
Distinct author names in 10 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.
- 01
- 02Poduri A2 papers · 2018
Division of Epilepsy, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts.
Papers in Europe PMC - 03Yang X2 papers · 2024
Department of Obstetrics and Gynecology, Huzhou Nanxun People's Hospital, Huzhou,313009, China.
Papers in Europe PMC - 04Awan FM1 paper · 2022
Department of Medical Lab Technology, The University of Haripur, Haripur, Pakistan.
Papers in Europe PMC - 05Axeen E1 paper · 2018
Department of Neurology, University of Virginia, Charlottesville, Virginia, USA.
Papers in Europe PMC - 06Ayyanar P1 paper · 2025
Department of Pathology and Laboratory Medicine, All India Institute of Medical Sciences, Bhubaneswar, Bhubaneswar, IND.
Papers in Europe PMC - 07Balla C1 paper · 2023
Cardiological Center, Sant'Anna University Hospital of Ferrara, 44121 Ferrara, Italy.
Papers in Europe PMC - 08Bardakjian TM1 paper · 2018
Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 09Barry CA1 paper · 2018
Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, USA.
Papers in Europe PMC - 10
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.
- NCT07221292·NOT YET RECRUITING·Pivotal Study of N-acetyl-L-leucine for CACNA1A
Conditions: CACNA1A · Spinocerebellar Ataxia Type 6 · Episodic Ataxia Type 2 · Familial Hemiplegic Migraine-1·Matched via recall expansion
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 2026-07-26This 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.
"Non-specific early-onset epileptic encephalopathy" OR "Non-specific EOEE" OR "Undetermined EOEE" OR "Undetermined early-onset epileptic encephalopathy"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Non-specific early-onset epileptic encephalopathy" OR "Non-specific EOEE" OR "Undetermined EOEE" OR "Undetermined early-onset epileptic encephalopathy" OR "AARS1" OR "CACNA1A" OR "YWHAG"
Recall-expansion terms: AARS1, CACNA1A, YWHAG
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 · 0 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 2026-07-27T16:23:21.991Z