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ORPHA:140927

Self-limited neonatal/infantile epilepsy

low confidenceDisorder

Also known as: BFNIS · Benign familial neonatal-infantile seizures · Benign neonatal-infantile epilepsy · SeLFNIE

Publications

4,282

Trials

0

Interventional, condition-specific

Researchers

1,173

Distinct authors in sample

Gene link

SCN2A

Strong

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare /-onset syndrome characterized by brief focal between the first days and six months of life in otherwise healthy infants. often occur in clusters and may include motor symptoms and autonomic signs (including apnea and cyanosis). Occasionally generalized are present. Typically, resolve spontaneously without causing any long-term neurological effects.

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)

SCN2A benign familial infantile epilepsy · benign familial infantile epilepsy caused by mutation in SCN2A · benign familial neonatal-infantile seizures · benign neonatal-infantile epilepsy · seizures, benign familial infantile, 3 · seizures, benign familial infantile, type 3

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

No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.

  1. Gene identifiedPresent

    Strong — SCN2A

  2. LiteraturePresent

    4,282 matched papers (3,014 in last 10 years) Source

  3. Phenotype characterisedPresent

    22 HPO annotations (e.g. Tonic seizure; Neonatal seizure; Slurred speech) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  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 (SCN2A).

GenCC classification: Strong.

Phenotypes (Monarch / HPO)

22

Associated phenotypes · MONDO:0011904

  • Tonic seizure
  • Neonatal seizure
  • Slurred speech
  • Nausea
  • Apnea

Showing 5 of 22 — open Monarch for the full list.

Animal models (Monarch / Alliance)

None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.

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?

4,282

4,282 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.

4,282 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).

3,014 in the last 10 years · low confidence

Phrase hits: 255 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,173

Distinct author names in 200 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
    Scheffer IE13 papers · 2026

    Department of Neurology, Royal Children's Hospital, Parkville, VIC, 3052, Australia.

    Papers in Europe PMC
  2. 02
    George AL Jr10 papers · 2025

    Division of Genetic Medicine, Vanderbilt University, Nashville, Tennessee.

    Papers in Europe PMC
  3. 03
    Berkovic SF9 papers · 2022

    Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.

    Papers in Europe PMC
  4. 04
    Petrou S9 papers · 2026

    The Florey Institute for Neuroscience and Mental Health, The University of Melbourne, Australia; The Centre for Neural Engineering, The University of Melbourne, Australia. Electronic address: spetrou@unimelb.edu.au.

    Papers in Europe PMC
  5. 05
    Lerche H8 papers · 2023

    Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.

    Papers in Europe PMC
  6. 06
    Guerrini R6 papers · 2025

    Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy.

    Papers in Europe PMC
  7. 07
    Howell KB6 papers · 2026

    Ion Channels and Human Diseases Group, The Florey Institute of Neuroscience and Mental Health, University of Melbourne, Parkville, VIC, 3052, Australia.

    Papers in Europe PMC
  8. 08
    Kearney JA6 papers · 2017

    Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, U.S.A.

    Papers in Europe PMC
  9. 09
    Mantegazza M6 papers · 2024

    CNRS UMR727, Université Côte d'Azur, Valbonne-Sophia Antipolis, France.

    Papers in Europe PMC
  10. 10
    Mulley JC6 papers · 2007

    Centre for Medical Genetics, Department of Laboratory Genetics, Women's and Children's Hospital, 72 King William Road, North Adelaide 5006, South Australia. jmulley@bionomics.com.au

    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 Self-limited neonatal/infantile epilepsy — 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.

("Self-limited neonatal/infantile epilepsy" OR "BFNIS" OR "Benign familial neonatal-infantile seizures" OR "Benign neonatal-infantile epilepsy" OR "SeLFNIE" OR "SCN2A benign familial infantile epilepsy" OR "benign familial infantile epilepsy caused by mutation in SCN2A" OR "seizures, benign familial infantile, 3" OR "seizures, benign familial infantile, type 3") OR ("SCN2A" OR "SCN2A syndrome" OR "SCN2A-related")

Run this search on Europe PMC

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

"Self-limited neonatal/infantile epilepsy" OR "BFNIS" OR "Benign familial neonatal-infantile seizures" OR "Benign neonatal-infantile epilepsy" OR "SeLFNIE" OR "SCN2A benign familial infantile epilepsy" OR "benign familial infantile epilepsy caused by mutation in SCN2A" OR "seizures, benign familial infantile, 3" OR "seizures, benign familial infantile, type 3"

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

Query health: ok — strategies attempted: phrase; 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 (4282) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity

Ingested 2026-07-27T07:46:34.900Z