ORPHA:140927
Self-limited neonatal/infantile epilepsy
Also known as: BFNIS · Benign familial neonatal-infantile seizures · Benign neonatal-infantile epilepsy · SeLFNIE
Publications
255
72.3th percentile
Trials
4
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0011904
- OMIM:607745
- UMLS:C1843140
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
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — SCN2A
- LiteraturePresent
255 matched papers (138 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 trialPresent
4 matched on ClinicalTrials.gov (2 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 (SCN2A).
GenCC classification: Strong.
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?
255
255 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
255 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).
138 in the last 10 years · medium confidence · 72.3th percentile (publications denominator)
Phrase hits: 255 · MeSH hits: 0
Who's working on it?
1,173
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.
- 01Scheffer IE13 papers · 2026
Department of Neurology, Royal Children's Hospital, Parkville, VIC, 3052, Australia.
Papers in Europe PMC - 02George AL Jr10 papers · 2025
Division of Genetic Medicine, Vanderbilt University, Nashville, Tennessee.
Papers in Europe PMC - 03Berkovic SF9 papers · 2022
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, VIC, 3084, Australia.
Papers in Europe PMC - 04Petrou 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 - 05Lerche H8 papers · 2023
Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
Papers in Europe PMC - 06Guerrini 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 - 07Howell 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 - 08Kearney JA6 papers · 2017
Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, Illinois, U.S.A.
Papers in Europe PMC - 09Mantegazza M6 papers · 2024
CNRS UMR727, Université Côte d'Azur, Valbonne-Sophia Antipolis, France.
Papers in Europe PMC - 10Mulley 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?
4
interventional trials for this specific condition
4 interventional trials matched this specific condition name; 2 currently recruiting in our sample.
Data as of 27 July 2026
4 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 86.7th percentile).
medium confidence · 86.7th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
4 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT07019922·RECRUITING·A Clinical Trial of Elsunersen in Pediatric SCN2A-DEE to Assess Efficacy and Safety
Conditions: Epileptic Encephalopathy · SCN2A Encephalopathy·Matched via recall expansion
- NCT05737784·RECRUITING·A Clinical Trial of PRAX-222 in Pediatric Participants With Early Onset SCN2A Developmental and Epileptic Encephalopathy
Conditions: SCN2A-DEE · Epilepsy·Matched via recall expansion
Observational and natural-history studies
3 observational studies match 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.
Recruiting or not-yet-recruiting
- NCT01238250·RECRUITING·Online Study of People Who Have Genetic Changes and Features of Autism: Simons Searchlight
Conditions: 16P11.2 Deletion Syndrome · 16p11.2 Duplications · 1Q21.1 Deletion · 1Q21.1 Microduplication Syndrome (Disorder)·Matched via recall expansion
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/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"
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" OR "SCN2A"
Recall-expansion terms: SCN2A
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: 4 interventional · 3 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
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 (255) is high for prevalence class "<1 / 1 000 000" — confidence capped at medium
Ingested 2026-07-27T07:46:34.900Z