ORPHA:353217
Epileptic encephalopathy with global cerebral demyelination
Also known as: AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency
Publications
74
57.5th percentile
Trials
0
Interventional, condition-specific
Researchers
524
Distinct authors in sample
Gene link
SLC25A12
Strong
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
Epileptic with global cerebral demyelination is a rare substrate carrier disorder characterized by severe muscular , (with or without episodic apnea) beginning in the first year of life, and arrested psychomotor development (affecting mainly motor skills). Severe spasticity with hyperreflexia has also been reported. Global cerebral hypomyelination is a characteristic imaging feature of this disease.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0013056
- MeSH:C567847
- OMIM:612949
- UMLS:C2751855
Additional Mondo synonyms (7)
DEE39 · EIEE39 · SLC25A12 early infantile epileptic encephalopathy · early infantile epileptic encephalopathy caused by mutation in SLC25A12 · epileptic encephalopathy with global cerebral demyelination · epileptic encephalopathy, early infantile, 39 · mitochondrial aspartate-glutamate carrier 1 deficiency
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
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Strong — SLC25A12
- LiteraturePresent
74 matched papers (61 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 trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
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 (SLC25A12).
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?
74
74 papers have ever been published on this condition (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.
74 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).
61 in the last 10 years · high confidence · 57.5th percentile (publications denominator)
Phrase hits: 74 · MeSH hits: 0
Who's working on it?
524
Distinct author names in 74 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.
- 01Lasorsa FM11 papers · 2025
Laboratory of Biochemistry and Molecular Biology, Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari Aldo Moro, via E. Orabona 4, 70125 Bari, Italy.
Papers in Europe PMC - 02Satrústegui J10 papers · 2022
Department of Molecular Biology, Centre for Molecular Biology Severo Ochoa, Universidad Autonoma de Madrid-Consejo Superior de Investigaciones Científicas, CIBER of Rare Diseases (CIBERER), and Health Research Institute Jimenez Diaz Foundation, Autonomous University of Madrid, 28049 Madrid, Spain.
Papers in Europe PMC - 03Palmieri F8 papers · 2025
Department of Biosciences, Biotechnologies and Biopharmaceutics, Laboratory of Biochemistry and Molecular Biology, University of Bari Aldo Moro, Via E. Orabona 4, 70125 Bari, Italy. ferdpalmieri@gmail.com.
Papers in Europe PMC - 04Contreras L7 papers · 2022
Department of Molecular Biology, Centre for Molecular Biology Severo Ochoa, Universidad Autonoma de Madrid-Consejo Superior de Investigaciones Científicas, CIBER of Rare Diseases (CIBERER), and Health Research Institute Jimenez Diaz Foundation, Autonomous University of Madrid, 28049 Madrid, Spain.
Papers in Europe PMC - 05Massenzio F5 papers · 2025
Department of Pharmacy and BioTechnology, University of Bologna, Bologna 40126, Italy.
Papers in Europe PMC - 06Monti B5 papers · 2025
Department of Pharmacy and BioTechnology, University of Bologna, Bologna 40126, Italy.
Papers in Europe PMC - 07Pardo B5 papers · 2022
Departamento de Biología Molecular, Centro de Biología Molecular Severo Ochoa, Universidad Autónoma de Madrid-Consejo Superior de Investigaciones Científicas, Madrid, Spain.
Papers in Europe PMC - 08Porcelli V5 papers · 2025
Laboratory of Biochemistry and Molecular Biology, Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari Aldo Moro, via E. Orabona 4, 70125 Bari, Italy.
Papers in Europe PMC - 09Barile SN4 papers · 2025
Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70121 Bari, Italy.
Papers in Europe PMC - 10
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. 1 observational study did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th 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.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
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
- NCT07413211·RECRUITING·Genetic Developmental and Epileptic Encephalopathy Natural History Study for Clinical Trial Readiness
Conditions: MEF2C · DEE·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.
"Epileptic encephalopathy with global cerebral demyelination" OR "AGC1 deficiency" OR "Mitochondrial aspartate-glutamate carrier 1 deficiency" OR "DEE39" OR "EIEE39" OR "SLC25A12 early infantile epileptic encephalopathy" OR "early infantile epileptic encephalopathy caused by mutation in SLC25A12" OR "epileptic encephalopathy, early infantile, 39"
MeSH descriptor terms unioned into the query: Hypomyelination, Global Cerebral
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Epileptic encephalopathy with global cerebral demyelination" OR "AGC1 deficiency" OR "Mitochondrial aspartate-glutamate carrier 1 deficiency" OR "DEE39" OR "EIEE39" OR "SLC25A12 early infantile epileptic encephalopathy" OR "early infantile epileptic encephalopathy caused by mutation in SLC25A12" OR "epileptic encephalopathy, early infantile, 39" OR "Hypomyelination, Global Cerebral" OR "SLC25A12" OR "neonatal-onset developmental and epileptic encephalopathy" OR "genetic developmental and epileptic encephalopathy"
Recall-expansion terms: SLC25A12, neonatal-onset developmental and epileptic encephalopathy, genetic developmental and epileptic encephalopathy
Study-type breakdown: 0 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, mesh, 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 2026-07-27T14:22:50.380Z