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ORPHA:293181

Epilepsy of infancy with migrating focal seizures

low confidenceDisorder

Also known as: EIMFS · Epilepsy with migrating focal seizure in infancy · MMPEI · MMPSI · MPEI · MPSI · Malignant migrating partial epilepsy of infancy · Malignant migrating partial seizures of infancy · Migrating partial epilepsy of infancy · Migrating partial seizures of infancy

Publications

1,062

Trials

3

Interventional, condition-specific

Researchers

1,412

Distinct authors in sample

Gene link

KCNT1

Definitive

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare epileptic and developmental characterized by seizure onset during the first months of life, focal arising independently in both hemispheres, marked drug resistance, and severe, long-term cognitive disability.

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 (6)

epilepsy of infancy with migrating focal seizures · malignant migrating Partial seizures in infancy · malignant migrating partial epilepsy of infancy · migrating Partial seizures in infancy · migrating partial epilepsy of infancy · migrating partial seizures of infancy

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

    Definitive — KCNT1

  2. LiteraturePresent

    1,062 matched papers (749 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

    3 matched on ClinicalTrials.gov (3 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 (KCNT1).

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?

1,062

1,062 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=5449) is 41.

1,062 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).

749 in the last 10 years · low confidence

Phrase hits: 1,062 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,412

Distinct author names in 200 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
    Nabbout R9 papers · 2026

    Department of Pediatric Neurology, Reference Center for Rare Epilepsies, Hôpital Necker-Enfants malades, member of European Network EPICARE, Paris, France.

    Papers in Europe PMC
  2. 02
    Zhang Y9 papers · 2024

    Department of Molecular Orthopaedics, Beijing Research Institute of Traumatology and Orthopaedics, Beijing Jishuitan Hospital, Beijing, China.

    Papers in Europe PMC
  3. 03
    Coppola G8 papers · 2016

    Clinic of Child and Adolescent Neuropsychiatry, Medical School, University of Salerno, Italy.

    Papers in Europe PMC
  4. 04
    Matsumoto N8 papers · 2023

    Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.

    Papers in Europe PMC
  5. 05
    Du Y6 papers · 2025

    Department of Pharmacology, Vanderbilt University, Nashville, TN 37232, USA; Vanderbilt Institute of Chemical Biology, Vanderbilt University, Nashville, TN 37232, USA.

    Papers in Europe PMC
  6. 06
    Emmitte KA6 papers · 2025

    Department of Pharmaceutical Sciences, UNT System College of Pharmacy, University of North Texas Health Science Center, Fort Worth, TX 76107, USA. Electronic address: kyle.emmitte@unthsc.edu.

    Papers in Europe PMC
  7. 07
    Kaczmarek LK6 papers · 2026

    Department of Pharmacology, Yale School of Medicine, New Haven, CT, 06520, USA. leonard.kaczmarek@yale.edu.

    Papers in Europe PMC
  8. 08
    Saitsu H6 papers · 2023

    Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.

    Papers in Europe PMC
  9. 09
    Scheffer IE6 papers · 2021

    Department of Biosciences and Biotechnologies, University of Bari, Bari, Italy

    Papers in Europe PMC
  10. 10
    Spitznagel BD6 papers · 2025

    Department of Pharmacology, Vanderbilt University, Nashville, TN 37232, USA.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

3

interventional trials for this specific condition

3 interventional trials matched this specific condition name; 3 currently recruiting in our sample.

Data as of 27 July 2026

3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).

low confidence · 85.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

3 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.

None of the matched observational studies is currently listed as 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.

"Epilepsy of infancy with migrating focal seizures" OR "Epilepsy of the infancy with migrating focal seizures" OR "EIMFS" OR "Epilepsy with migrating focal seizure in infancy" OR "MMPEI" OR "MMPSI" OR "Malignant migrating partial epilepsy of infancy" OR "Malignant migrating partial epilepsy of the infancy" OR "Malignant migrating partial seizures of infancy" OR "Malignant migrating partial seizures of the infancy" OR "Migrating partial epilepsy of infancy" OR "Migrating partial epilepsy of the infancy" OR "Migrating partial seizures of infancy" OR "Migrating partial seizures of the infancy" OR "malignant migrating Partial seizures in infancy" OR "migrating Partial seizures in infancy"

Run this search on Europe PMC

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

"Epilepsy of infancy with migrating focal seizures" OR "Epilepsy of the infancy with migrating focal seizures" OR "EIMFS" OR "Epilepsy with migrating focal seizure in infancy" OR "MMPEI" OR "MMPSI" OR "Malignant migrating partial epilepsy of infancy" OR "Malignant migrating partial epilepsy of the infancy" OR "Malignant migrating partial seizures of infancy" OR "Malignant migrating partial seizures of the infancy" OR "Migrating partial epilepsy of infancy" OR "Migrating partial epilepsy of the infancy" OR "Migrating partial seizures of infancy" OR "Migrating partial seizures of the infancy" OR "malignant migrating Partial seizures in infancy" OR "migrating Partial seizures in infancy" OR "KCNT1"

Recall-expansion terms: KCNT1

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: 3 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

Synonyms dropped by stoplist: MPEI; MPSI

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 2 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus
  • Publication count (1062) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T12:20:00.508Z