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ORPHA:163703

Febrile infection-related epilepsy syndrome

high confidenceDisorder

Also known as: DESC syndrome · Devastating epileptic encephalopathy in school-aged children · FIRES · Fever-induced refractory epileptic encephalopathy in school-aged children · AERRPS · Acute encephalitis with refractory repetitive partial seizures · Acute non-herpetic encephalitis with severe refractory status epilepticus

Publications

58,570

99.1th percentile

Trials

1

Interventional, condition-specific

Researchers

1,102

Distinct authors in sample

Gene link

—

Readiness

3/6

Stages with a signal

Clinical definition (Orphanet)

A rare, potentially fatal , epileptic characterized by explosive-onset of recurrent multifocal and bilateral tonic-clonic following an unspecific febrile illness. The syndrome develops without a clear acute structural, toxic or cause, in a patient without previous . FIRES is a subgroup of new-onset refractory status epilepticus (NORSE), and requires a preceding febrile infection as a mandatory feature.

How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.

Orphanet entry

Cross-references

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

Additional Mondo synonyms (7)

Febrile Infection-Related Epilepsy Syndrome (FIRES) · acute encephalitis with refractory repetitive partial seizures · acute non-herpetic encephalitis with severe refractory status epilepticus · devastating epileptic encephalopathy in school-aged children · fever-induced refractory epileptic encephalopathy in school-aged children · idiopathic catastrophic epileptic encephalopathy · severe refractory status epilepticus owing to presumed encephalitis

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.

  1. Gene identifiedNot found

    No GenCC disease–gene assertion in this build

  2. LiteraturePresent

    58,570 matched papers (31,730 in last 10 years) Source

  3. Phenotype characterisedPresent

    12 HPO annotations (e.g. Sinusitis; Atypical behavior; Sudden death) Source

  4. Animal modelNot found

    No Alliance genotype “model of” associations via Monarch for these Mondo IDs

  5. Orphan designationNot found

    No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source

  6. Interventional trialPresent

    1 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?

Not yet — the cause hasn't been pinned down in GenCC.

No strong gene–disease assertion joined for this Orphanet entity.

Phenotypes (Monarch / HPO)

12

Associated phenotypes · MONDO:0015584

  • Sinusitis
  • Atypical behavior
  • Sudden death
  • Fever
  • Headache

Showing 5 of 12 — 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?

58,570

58,570 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.

58,570 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).

31,730 in the last 10 years · high confidence · 99.1th percentile (publications denominator)

Phrase hits: 58,570 · MeSH hits: 0

Open Europe PMC search

Who's working on it?

1,102

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.

  1. 01
    Hirsch LJ22 papers · 2026

    Department of Neurology, Yale University, Comprehensive Epilepsy Center, New Haven, CT, USA.

    Papers in Europe PMC
  2. 02
    Gaspard N16 papers · 2026

    Service de Neurologie, Université Libre de Bruxelles-Hôpital Erasme, Brussels, Belgium.

    Papers in Europe PMC
  3. 03
    Eschbach K14 papers · 2026

    University of Colorado, Children's Hospital Colorado, Aurora, CO, USA.

    Papers in Europe PMC
  4. 04
    Hanin A12 papers · 2026

    Department of Neurology and Immunobiology, Yale University School of Medicine, New Haven, Connecticut, USA.

    Papers in Europe PMC
  5. 05
    Wang Y12 papers · 2025

    Department of Neurology, Children's Hospital of Fudan University, National Children's Medical Center, No. 399, Wanyuan Road, Minhang District, Shanghai, China. yiwang@shmu.edu.cn.

    Papers in Europe PMC
  6. 06
    Kazazian K9 papers · 2026

    Schulich School of Medicine and Dentistry, Western University, London, Ontario, Canada.

    Papers in Europe PMC
  7. 07
    Wong N9 papers · 2026

    NORSE Institute, Summit, NJ, USA.

    Papers in Europe PMC
  8. 08
    Farias-Moeller R8 papers · 2026

    Center for Neuroscience, Children's National Health System, George Washington University, Washington, DC, USA.

    Papers in Europe PMC
  9. 09
    Muscal E8 papers · 2026

    Department of Pediatrics, Section of Pediatric, Rheumatology, Baylor College of Medicine, Houston, TX, USA.

    Papers in Europe PMC
  10. 10
    Gofton TE7 papers · 2026

    Schulich School of Medicine and Dentistry, Western University, London Health Sciences Center, Ontario, Canada.

    Papers in Europe PMC

Clinical research

Is a treatment being tested?

1

interventional trials for this specific condition

1 interventional trial matched this specific condition name; 1 currently recruiting in our sample.

Data as of 11 September 2026

1 interventional trial — more than 77.2% of diseases in the trials denominator have none at all (5501 of 7126; this disease is at the 80.1th percentile).

high confidence · 80.1th percentile (trials denominator)

Recruiting interventional trials

From the matched ClinicalTrials.gov set

1 interventional trials matched after quoted-phrase search and title/condition post-filter.

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 2026-07-30

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 Febrile infection-related epilepsy syndrome — 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.

"Febrile infection-related epilepsy syndrome" OR "DESC syndrome" OR "Devastating epileptic encephalopathy in school-aged children" OR "FIRES" OR "Fever-induced refractory epileptic encephalopathy in school-aged children" OR "AERRPS" OR "Acute encephalitis with refractory repetitive partial seizures" OR "Acute non-herpetic encephalitis with severe refractory status epilepticus" OR "Febrile Infection-Related Epilepsy Syndrome (FIRES)" OR "idiopathic catastrophic epileptic encephalopathy" OR "severe refractory status epilepticus owing to presumed encephalitis"

Run this search on Europe PMC

ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):

"Febrile infection-related epilepsy syndrome" OR "DESC syndrome" OR "Devastating epileptic encephalopathy in school-aged children" OR "FIRES" OR "Fever-induced refractory epileptic encephalopathy in school-aged children" OR "AERRPS" OR "Acute encephalitis with refractory repetitive partial seizures" OR "Acute non-herpetic encephalitis with severe refractory status epilepticus" OR "Febrile Infection-Related Epilepsy Syndrome (FIRES)" OR "idiopathic catastrophic epileptic encephalopathy" OR "severe refractory status epilepticus owing to presumed encephalitis"

Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).

Study-type breakdown: 1 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

Ingested 2026-07-27T08:13:07.643Z