ORPHA:1949
Self-limited neonatal epilepsy
Also known as: BFNS · Benign familial neonatal convulsions · Benign familial neonatal epilepsy · Benign familial neonatal seizures · SeLNE
Publications
972
88th percentile
Trials
0
Interventional, condition-specific
Researchers
1,262
Distinct authors in sample
Gene link
—
Readiness
1/6
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0016027
- UMLS:C0220669
- NCIT:C117307
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
972 matched papers (395 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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
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?
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=5449) is 41.
972 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).
395 in the last 10 years · medium confidence · 88th percentile (publications denominator)
Phrase hits: 972 · MeSH hits: 0
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.
- 01Taglialatela M6 papers · 2025
Department of Medicine and Health Science, University of Molise, Campobasso, Italy. mtaglial@unina.it.
Papers in Europe PMC - 02Scheffer 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 - 03Wang X5 papers · 2025
Cipher Gene, Ltd., Beijing, 100080, China. xdwang@ciphergene.com.
Papers in Europe PMC - 04
- 05Chen 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 - 06Cilio 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 - 07Lee 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 - 08Li 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 - 09Miceli F4 papers · 2021
Department of Neuroscience, University of Naples "Federico II", Via Pansini 5, 80131, Naples, Italy.
Papers in Europe PMC - 10Shellhaas 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 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.
medium 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.
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.
"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"
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