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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

99.6th percentile

Trials

1

Interventional, condition-specific

Researchers

1,102

Distinct authors in sample

Gene link

—

Readiness

2/6

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.”

2/6 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 characterisedNot checked

    Not yet enriched from Monarch / HPO

  4. Animal modelNot checked

    Not yet enriched from Monarch / Alliance

  5. Orphan designationNot checked

    FDA/EMA orphan-drug designation not enriched yet

  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)

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?

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=5449) is 41.

58,570 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).

31,730 in the last 10 years · high confidence · 99.6th 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 27 July 2026

1 interventional trial — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 76.8th percentile).

high confidence · 76.8th 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.

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 2026-07-26

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