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ORPHA:353217

Epileptic encephalopathy with global cerebral demyelination

low confidenceDisorder

Also known as: AGC1 deficiency · Mitochondrial aspartate-glutamate carrier 1 deficiency

Query health: suspect — Only one of 2 strategies returned hits (phrase).

Publications

1,057

Trials

0

Interventional, condition-specific

Researchers

524

Distinct authors in sample

Gene link

SLC25A12

Strong

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Strong — SLC25A12

  2. LiteraturePresent

    1,057 matched papers (735 in last 10 years) Source

  3. Phenotype characterisedPresent

    43 HPO annotations (e.g. Poor head control; Severe muscular hypotonia; Frontal hirsutism) Source

  4. Animal modelPresent

    1 genotype model (Mus musculus) Source

  5. Orphan designationNot found

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

  6. 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)

43

Associated phenotypes · MONDO:0013056

  • Poor head control
  • Severe muscular hypotonia
  • Frontal hirsutism
  • Single transverse palmar crease
  • Type 1 muscle fiber predominance

Showing 5 of 43 — open Monarch for the full list.

Animal models (Monarch / Alliance)

1

Model associations linked to this Mondo ID

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?

1,057

1,057 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.

1,057 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).

735 in the last 10 years · low confidence

Phrase hits: 74 · MeSH hits: 0

Open Europe PMC search

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.

  1. 01
    Lasorsa 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
  2. 02
    Satrústegui 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
  3. 03
    Palmieri 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
  4. 04
    Contreras 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
  5. 05
    Massenzio F5 papers · 2025

    Department of Pharmacy and BioTechnology, University of Bologna, Bologna 40126, Italy.

    Papers in Europe PMC
  6. 06
    Monti B5 papers · 2025

    Department of Pharmacy and BioTechnology, University of Bologna, Bologna 40126, Italy.

    Papers in Europe PMC
  7. 07
    Pardo 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
  8. 08
    Porcelli 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
  9. 09
    Barile SN4 papers · 2025

    Department of Biosciences, Biotechnologies and Biopharmaceutics, University of Bari, 70121 Bari, Italy.

    Papers in Europe PMC
  10. 10
    Du J4 papers · 2016

    From the Department of Biochemistry.

    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).

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.

low 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.

See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.

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 Epileptic encephalopathy with global cerebral demyelination — 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.

("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 (MESH:"Hypomyelination, Global Cerebral") OR ("SLC25A12" OR "SLC25A12 syndrome" OR "SLC25A12-related")

Run this search on Europe PMC

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"

Study-type breakdown: 0 interventional · 0 observational · 0 expanded access. Only interventional studies enter the trial headline.

Query health: suspect — strategies attempted: phrase, mesh; with hits: phrase

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
  • Publication count (1057) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T14:22:50.380Z