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ORPHA:1949

Self-limited neonatal epilepsy

medium confidenceDisorder

Also known as: BFNS · Benign familial neonatal convulsions · Benign familial neonatal epilepsy · Benign familial neonatal seizures · SeLNE

Publications

972

80.7th percentile

Trials

0

Interventional, condition-specific

Researchers

1,262

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare genetic syndrome characterized by onset typically in the first week of life, in otherwise healthy newborns, and usually resolving within the first year of life.

How rare: How common this is has not been clearly measured.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

benign familal neonatal seizures · benign familial convulsion · benign familial convulsions · benign familial neonatal convulsions · benign familial neonatal epilepsy · benign familial neonatal seizures · seizures, benign familial neonatal

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

Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    972 matched papers (395 in last 10 years) Source

  3. Phenotype characterisedPresent

    29 HPO annotations (e.g. Focal clonic seizure; Limb myoclonus; Gastroesophageal reflux) Source

  4. Animal modelPresent

    20 genotype models (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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

29

Associated phenotypes · MONDO:0016027

  • Focal clonic seizure
  • Limb myoclonus
  • Gastroesophageal reflux
  • Simple febrile seizure
  • Status epilepticus

Showing 5 of 29 — open Monarch for the full list.

Animal models (Monarch / Alliance)

20

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)

1 associated chemical · 8 pathways. Therapeutic evidence is listed first when present — not a treatment recommendation.

  • Vigabatrin · marker/mechanism

Pathways: Cholinergic synapse; Neuronal System; Developmental Biology; Potassium Channels; Voltage gated Potassium channels; L1CAM interactions; Axon guidance; Interaction between L1 and Ankyrins

MyDisease.info · MONDO:0016027

Literature

Is anyone studying this?

972

972 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.

972 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).

395 in the last 10 years · medium confidence · 80.7th percentile (publications denominator)

Phrase hits: 972 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,262

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
    Taglialatela M6 papers · 2025

    Department of Medicine and Health Science, University of Molise, Campobasso, Italy. mtaglial@unina.it.

    Papers in Europe PMC
  2. 02
    Scheffer IE5 papers · 2026

    Murdoch Children's Research Institute, Melbourne, VIC, Australia; Department of Paediatrics, University of Melbourne, Melbourne, VIC, Australia; Department of Medicine, University of Melbourne, Melbourne, VIC, Australia; Austin Health, and Florey Institute of Neuroscience and Mental Health, Melbourne, VIC, Australia; Department of Neurology, Royal Children's Hospital, Melbourne, VIC, Australia.

    Papers in Europe PMC
  3. 03
    Wang X5 papers · 2025

    Cipher Gene, Ltd., Beijing, 100080, China. xdwang@ciphergene.com.

    Papers in Europe PMC
  4. 04
    Wang Y5 papers · 2026

    Cipher Gene, Ltd., Beijing, 100080, China.

    Papers in Europe PMC
  5. 05
    Chen X4 papers · 2026

    Medical Genetic Diagnosis and Therapy Center, Fujian Key Laboratory for Prenatal Diagnosis and Birth Defect, Fujian Maternity and Child Health Hospital College of Clinical Medicine for Obstetrics & Gynecology and Pediatrics, Fujian Medical University, Gulou District, No. 18 Daoshan Road, Fuzhou, 350001, Fujian, China.

    Papers in Europe PMC
  6. 06
    Cilio MR4 papers · 2020

    From the Department of Pediatrics & Communicable Diseases (R.A.S.), University of Michigan, Ann Arbor; Departments of Neurology & Pediatrics (C.J.W.), Stanford University, Palo Alto, CA; Department of Neurology (T.N.T., N.W.), Children's National Health System, George Washington University School of Medicine, Washington, DC; Departments of Neurology and Pediatrics (H.C.G., M.R.C.), UCSF Benioff Children's Hospital, and Department of Epidemiology & Biostatistics (H.C.G.), University of California San Francisco; Department of Neurology (C.J.C.), Massachusetts General Hospital, Boston; Departments of Neurology and Pediatrics (S.L.M., N.S.A.), The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania; and Department of Neurology (J.S.S.), Boston Children's Hospital, MA.

    Papers in Europe PMC
  7. 07
    Lee IC4 papers · 2022

    Division of Pediatric Neurology, Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan. y610@mercury.csmu.edu.tw.

    Papers in Europe PMC
  8. 08
    Li Y4 papers · 2025

    Chongqing Key Laboratory of Big Data for Bio Intelligence, Chongqing University of Posts and Telecommunications, Chongqing, 400065, China.

    Papers in Europe PMC
  9. 09
    Miceli F4 papers · 2021

    Department of Neuroscience, University of Naples "Federico II", Via Pansini 5, 80131, Naples, Italy.

    Papers in Europe PMC
  10. 10
    Shellhaas RA4 papers · 2024

    From the Department of Pediatrics & Communicable Diseases (R.A.S.), University of Michigan, Ann Arbor; Departments of Neurology & Pediatrics (C.J.W.), Stanford University, Palo Alto, CA; Department of Neurology (T.N.T., N.W.), Children's National Health System, George Washington University School of Medicine, Washington, DC; Departments of Neurology and Pediatrics (H.C.G., M.R.C.), UCSF Benioff Children's Hospital, and Department of Epidemiology & Biostatistics (H.C.G.), University of California San Francisco; Department of Neurology (C.J.C.), Massachusetts General Hospital, Boston; Departments of Neurology and Pediatrics (S.L.M., N.S.A.), The Children's Hospital of Philadelphia and The Perelman School of Medicine at the University of Pennsylvania; and Department of Neurology (J.S.S.), Boston Children's Hospital, MA. shellhaa@med.umich.edu.

    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.

medium 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 2026-07-29

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 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 epilepsy" OR "Benign familial neonatal convulsions" OR "Benign familial neonatal epilepsy" OR "Benign familial neonatal seizures" OR "SeLNE" OR "benign familal neonatal seizures" OR "benign familial convulsion" OR "benign familial convulsions" OR "seizures, benign familial neonatal"

Run this search on Europe PMC

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

"Self-limited neonatal epilepsy" OR "Benign familial neonatal convulsions" OR "Benign familial neonatal epilepsy" OR "Benign familial neonatal seizures" OR "SeLNE" OR "benign familal neonatal seizures" OR "benign familial convulsion" OR "benign familial convulsions" OR "seizures, benign familial neonatal"

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

Synonyms dropped by stoplist: BFNS

Confidence reasoning

  • Preferred label is multi-word and distinctive
  • 1 synonym(s) dropped by stoplist (may under-count)
  • No label/synonym collisions with other diseases in this corpus

Ingested 2026-07-26T18:35:39.982Z