ORPHA:306
Self-limited infantile epilepsy
Also known as: BFIE · BFIS · Benign familial infantile convulsions · Benign familial infantile epilepsy · Benign familial infantile seizures · SeLIE
Publications
2,482
Trials
0
Interventional, condition-specific
Researchers
1,337
Distinct authors in sample
Gene link
CHRNA2
Disputed
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic syndrome characterized by repeated brief focal occurring between 3 and 20 months of age, typically peaking around 6 months.
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:0017615
- UMLS:C5575231
Additional Mondo synonyms (3)
benign familial infantile convulsions · benign familial infantile seizures · seizures, benign familial infantile
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.
- Gene identifiedPartial
Disputed — CHRNA2
- LiteraturePresent
2,482 matched papers (1,517 in last 10 years) Source
- Phenotype characterisedPresent
72 HPO annotations (e.g. Tonic seizure; Neonatal seizure; Slurred speech) Source
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- 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?
Uncertain — earlier gene claims are disputed or refuted.
GenCC classification: Disputed.
Phenotypes (Monarch / HPO)
72
Associated phenotypes · MONDO:0017615
- Tonic seizure
- Neonatal seizure
- Slurred speech
- Nausea
- Apnea
Showing 5 of 72 — 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?
2,482
2,482 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.
2,482 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).
1,517 in the last 10 years · low confidence
Phrase hits: 1,427 · MeSH hits: 0
Who's working on it?
1,337
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.
- 01Scheffer IE18 papers · 2026
From the Epilepsy Research Centre (A.M.D., A.L.S., S.R.-H., I.E.S.), Department of Medicine, The University of Melbourne, Austin Health; Melbourne Medical School (L.C.), Faculty of Medicine, Dentistry and Health Sciences, The University of Melbourne, Parkville; The Florey Institute of Neurosciences and Mental Health (L.C., I.E.S.), Melbourne; and Department of Paediatrics (I.E.S.), The University of Melbourne, Royal Children's Hospital, and Murdoch Children's Research Institute, Victoria, Australia. i.scheffer@unimelb.edu.au.
Papers in Europe PMC - 02Yang L8 papers · 2026
Neurology Department, Hunan Children's Hospital, Changsha, China.
Papers in Europe PMC - 03Zhang X8 papers · 2025
Neurology Department, Hunan Children's Hospital, Changsha, China.
Papers in Europe PMC - 04Chen Y7 papers · 2026
Department of General Surgery, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, 100045, China. bch_chenyajun@163.com.
Papers in Europe PMC - 05Zhang Y7 papers · 2026
Department of Neurology, West China Hospital of Sichuan University, Chengdu, China.
Papers in Europe PMC - 06Lee J6 papers · 2024
Department of Pediatrics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Papers in Europe PMC - 07Wang X6 papers · 2026
Department of Paediatrics, The Second Affiliated Hospital of Xi'an Jiaotong University, Xi'an, China.
Papers in Europe PMC - 08Hammer MF5 papers · 2024
BIO5 Institute is Keating Research Building, 1657 E Helen Street, University of Arizona, Tucson, AZ 85721, USA.
Papers in Europe PMC - 09Howell KB5 papers · 2026
Murdoch Children's Research Institute, Parkville, Victoria, Australia.
Papers in Europe PMC - 10Huang S5 papers · 2026
Department of General Surgery, Children's Hospital of Soochow University, No.92 Zhongnan St, Soochow, Jiangsu, 215025, China. prof_huangshungen@163.com.
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 2026-07-29
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 infantile epilepsy — check Associations / patient organisations on that page.
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 infantile epilepsy" OR "Benign familial infantile convulsions" OR "Benign familial infantile epilepsy" OR "Benign familial infantile seizures" OR "SeLIE" OR "seizures, benign familial infantile") OR ("CHRNA2" OR "CHRNA2 syndrome" OR "CHRNA2-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Self-limited infantile epilepsy" OR "Benign familial infantile convulsions" OR "Benign familial infantile epilepsy" OR "Benign familial infantile seizures" OR "SeLIE" OR "seizures, benign familial infantile"
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: BFIE; BFIS
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 (2482) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T13:20:06.840Z