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ORPHA:36387

Genetic epilepsy with febrile seizure plus

low confidenceDisorder

Also known as: GEFS+ · Generalized epilepsy with febrile seizures plus

Publications

25,723

Trials

0

Interventional, condition-specific

Researchers

1,397

Distinct authors in sample

Gene link

HCN1, SCN1A, SCN1B

Definitive

Readiness

4/6

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.

Orphanet entry

Cross-references

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

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.”

4/6 stages with a signal

No matched interventional trial, but a gene association and an animal model are on record — often described as translation-ready / stalled at the clinical step.

  1. Gene identifiedPresent

    Definitive — HCN1, SCN1A, SCN1B, STX1B

  2. LiteraturePresent

    25,723 matched papers (14,603 in last 10 years) Source

  3. Phenotype characterisedPresent

    81 HPO annotations (e.g. EEG with spike-wave complexes (>3.5 Hz); Febrile seizure (within the age range of 3 months to 6 years); Bilateral tonic-clonic seizure) Source

  4. Animal modelPresent

    7 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?

Yes — we know a specific gene responsible (HCN1, SCN1A, SCN1B…).

GenCC classification: Definitive.

Phenotypes (Monarch / HPO)

81

Associated phenotypes · MONDO:0018214

  • EEG with spike-wave complexes (>3.5 Hz)
  • Febrile seizure (within the age range of 3 months to 6 years)
  • Bilateral tonic-clonic seizure
  • Generalized non-motor (absence) seizure

Showing 4 of 81 — open Monarch for the full list.

Animal models (Monarch / Alliance)

7

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)

No CTD chemical associations returned for this Mondo ID.

Literature

Is anyone studying this?

25,723

25,723 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=3967) is 59.

25,723 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).

14,603 in the last 10 years · low confidence

Phrase hits: 14,888 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,397

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
    Scheffer 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
  2. 02
    Berkovic SF10 papers · 2025

    Epilepsy Research Centre, Department of Medicine, University of Melbourne, Austin Health, Heidelberg, Victoria 3084, Australia.

    Papers in Europe PMC
  3. 03
    Helbig I8 papers · 2026

    Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, United States of America.

    Papers in Europe PMC
  4. 04
    Wang Y8 papers · 2026

    Department of Neurology, Comprehensive Epilepsy Center, Xijing Hospital, Fourth Military Medical University, Xi'an, China.

    Papers in Europe PMC
  5. 05
    Guerrini R7 papers · 2026

    Pediatric Neurology Unit and Laboratories, A. Meyer Children's Hospital -University of Florence, Florence, Italy.

    Papers in Europe PMC
  6. 06
    Li X7 papers · 2026

    Department of Neurosurgery, The Fifth Affiliated Hospital of Zhengzhou University, Zhengzhou, China.

    Papers in Europe PMC
  7. 07
    Møller RS7 papers · 2026

    Department of Epilepsy Genetics and Personalized Medicine, Danish Epilepsy Center, Filadelfia, Dianalund, Denmark.

    Papers in Europe PMC
  8. 08
    Ding 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
  9. 09
    Afawi Z5 papers · 2025

    Sackler School of Medicine, Tel-Aviv University, Ramat Aviv, Israel.

    Papers in Europe PMC
  10. 10
    Brunklaus A5 papers · 2025

    Institute of Health and Wellbeing, University of Glasgow, Glasgow, UK.

    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 5 · after dedupe 5 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 5 · 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).

Uncertain / not reviewed (5)

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 Genetic epilepsy with febrile seizure plus — 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.

("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 "HCN1 syndrome" OR "HCN1-related" OR "SCN1A" OR "SCN1A syndrome" OR "SCN1A-related" OR "SCN1B" OR "SCN1B syndrome" OR "SCN1B-related")

Run this search on Europe PMC

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"

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

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 (25723) is extremely high with unknown/missing prevalence — treat as possible over-matching, not proven research intensity

Ingested 2026-07-26T23:54:01.420Z