ORPHA:36387
Genetic epilepsy with febrile seizure plus
Also known as: GEFS+ · Generalized epilepsy with febrile seizures plus
Publications
14,888
Trials
3
Interventional, condition-specific
Researchers
1,397
Distinct authors in sample
Gene link
HCN1, SCN1A, SCN1B
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare familial syndrome characterized by febrile, focal and generalized , with a spectrum of phenotypes largely variable among different family members.
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:0018214
- MeSH:C565808
- UMLS:C3502809
- NCIT:C122811
Additional Mondo synonyms (5)
epilepsy, generalized, with febrile seizures plus · generalised epilepsy with febrile seizures-plus · generalized epilepsy with febrile seizures plus · genetic epilepsy with febrile seizures plus · genetic epilepsy with febrile seizures-plus
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
Definitive — HCN1, SCN1A, SCN1B, STX1B
- LiteraturePresent
14,888 matched papers (7,402 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
3 matched on ClinicalTrials.gov (1 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 (HCN1, SCN1A, SCN1B…).
GenCC classification: Definitive.
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?
14,888
14,888 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
14,888 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).
7,402 in the last 10 years · low confidence
Phrase hits: 14,888 · MeSH hits: 0
Who's working on it?
1,397
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 IE11 papers · 2025
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia; Florey Institute and Department of Paediatrics, University of Melbourne, Royal Children's Hospital, Parkville, Victoria 3052, Australia.
Papers in Europe PMC - 02Berkovic SF10 papers · 2025
Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.
Papers in Europe PMC - 03Helbig I8 papers · 2026
Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.
Papers in Europe PMC - 04Wang Y8 papers · 2026
Department of Neurology, Comprehensive Epilepsy Center, Xijing Hospital, Fourth Military Medical University, Xi'an, China.
Papers in Europe PMC - 05Guerrini R7 papers · 2026
Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital -University of Florence, Florence, Italy.
Papers in Europe PMC - 06Li X7 papers · 2026
Department of Neurosurgery, The Fifth Affiliated Hospital of Zhengzhou University, Zhengzhou, China.
Papers in Europe PMC - 07Møller RS7 papers · 2026
Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Filadelfia, Dianalund, Denmark.
Papers in Europe PMC - 08Ding J6 papers · 2026
The Second School of Clinical Medicine, Southern Medical University, Guangzhou 510515, China; Department of Pediatrics, Guangdong Provincial People's Hospital, Guangzhou 510080, China; Department of Pediatrics, Affiliated Dongguan People's Hospital, Southern Medical University, Dongguan, 523059, China.
Papers in Europe PMC - 09Afawi Z5 papers · 2025
Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel.
Papers in Europe PMC - 10Brunklaus A5 papers · 2025
Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
3
interventional trials for this specific condition
3 interventional trials matched this specific condition name; 1 currently recruiting in our sample.
Data as of 27 July 2026
3 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 85.1th percentile).
low confidence · 85.1th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
3 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05419492·RECRUITING·A Clinical Study to Evaluate the Safety and Efficacy of ETX101 in Infants and Children With SCN1A-Positive Dravet Syndrome
Conditions: Dravet Syndrome·Matched via recall expansion
Observational and natural-history studies
4 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
- NCT07251673·RECRUITING·Longitudinal Study of Phenotypic and Developmental Severity in Patients With Dravet Syndrome With SCN1A Gene Mutation
Conditions: Dravet Syndrome·Matched via recall expansion
- NCT06504511·RECRUITING·SCN1A Horizons A Natural History Study of SCN1A-related Epilepsies in the United Kingdom
Conditions: SCN1A · Dravet Syndrome · Epilepsy·Matched via recall expansion
- 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.
"Genetic epilepsy with febrile seizure plus" OR "GEFS+" OR "Generalized epilepsy with febrile seizures plus" OR "epilepsy, generalized, with febrile seizures plus" OR "generalised epilepsy with febrile seizures-plus" OR "genetic epilepsy with febrile seizures plus" OR "genetic epilepsy with febrile seizures-plus"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Genetic epilepsy with febrile seizure plus" OR "GEFS+" OR "Generalized epilepsy with febrile seizures plus" OR "epilepsy, generalized, with febrile seizures plus" OR "generalised epilepsy with febrile seizures-plus" OR "genetic epilepsy with febrile seizures plus" OR "genetic epilepsy with febrile seizures-plus" OR "HCN1" OR "SCN1A" OR "SCN1B"
Recall-expansion terms: HCN1, SCN1A, SCN1B
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: 3 interventional · 4 observational · 1 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 (14888) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity
Ingested 2026-07-26T23:54:01.420Z