Febrile infection-related epilepsy syndrome
disease diseaseOn this page
Also known as acute encephalitis with refractory repetitive partial seizuresacute non-herpetic encephalitis with severe refractory status epilepticusAERRPSDESC syndromedevastating epileptic encephalopathy in school-aged childrenFebrile Infection-Related Epilepsy Syndrome (FIRES)fever-induced refractory epileptic encephalopathy in school-aged childrenFIRESidiopathic catastrophic epileptic encephalopathysevere refractory status epilepticus owing to presumed encephalitisstatus epilepticus owing to presumed encephalitis
Summary
Febrile infection-related epilepsy syndrome (MONDO:0015584) is a disease and 1 clinical trial. Top therapeutic interventions include anakinra. A subtype of childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy — broader associated-gene and molecular evidence is on the parent page (see Disease family below).
At a glance
- Prevalence: Unknown (Germany) [Orphanet-validated]
- Phenotypes (HPO): 12
- Clinical trials: 1
Clinical features
Epidemiology
Prevalence records
1 prevalence record(s), Orphanet:
| Type | Class | Value | Geography | Validation |
|---|---|---|---|---|
| Annual incidence | 1-9 / 1 000 000 | 0.1 | Germany | Validated |
Signs & symptoms
Clinical features (HPO)
12 HPO clinical features (Orphanet curated; top 12 by frequency):
| HPO ID | Term | Frequency |
|---|---|---|
| HP:0001254 | Lethargy | Very frequent (80-99%) |
| HP:0002353 | EEG abnormality | Very frequent (80-99%) |
| HP:0002376 | Developmental regression | Very frequent (80-99%) |
| HP:0007359 | Focal-onset seizure | Very frequent (80-99%) |
| HP:0000246 | Sinusitis | Frequent (30-79%) |
| HP:0000708 | Atypical behavior | Frequent (30-79%) |
| HP:0001945 | Fever | Frequent (30-79%) |
| HP:0002315 | Headache | Frequent (30-79%) |
| HP:0003326 | Myalgia | Frequent (30-79%) |
| HP:0012735 | Cough | Frequent (30-79%) |
| HP:0001699 | Sudden death | Occasional (5-29%) |
| HP:0002960 | Autoimmunity | Occasional (5-29%) |
Identifiers
Disease identifiers
| Field | Value |
|---|---|
| Canonical name | febrile infection-related epilepsy syndrome |
| Mondo ID | MONDO:0015584 |
| Orphanet | 163703 |
| ICD-11 | 1316435973 |
| SNOMED CT | 725413002 |
| UMLS | C4049262 |
| MedGen | 1381987 |
| GARD | 0011005 |
| NORD | 1889 |
| Is cancer (heuristic) | no |
Also known as: acute encephalitis with refractory repetitive partial seizures · acute non-herpetic encephalitis with severe refractory status epilepticus · AERRPS · DESC syndrome · devastating epileptic encephalopathy in school-aged children · Febrile Infection-Related Epilepsy Syndrome (FIRES) · fever-induced refractory epileptic encephalopathy in school-aged children · FIRES · idiopathic catastrophic epileptic encephalopathy · severe refractory status epilepticus owing to presumed encephalitis · status epilepticus owing to presumed encephalitis
Disease family
Classification path: disease › human disease › disease by body system or component › nervous system disorder › central nervous system disorder › brain disorder › epilepsy › epilepsy syndrome › childhood-onset epilepsy syndrome › childhood-onset epilepsy syndrome with developmental and/or epileptic encephalopathy › febrile infection-related epilepsy syndrome
Related subtypes (4): epilepsy with myoclonic atonic seizures, Lennox-Gastaut syndrome, idiopathic hemiconvulsion-hemiplegia syndrome, developmental and/or epileptic encephalopathy with spike-wave activation in sleep
Genetics & variants
GWAS landscape
No GWAS associations recorded — common-variant (GWAS) studies don’t cover this disease (typical for Mendelian / rare diseases). See the curated gene cohort and Mendelian overlap below.
Variant details and genetic-evidence tiers
No tiered GWAS variants or ClinVar records for this disease.
Genes & proteins
No associated-gene cohort resolved for this disease. Atlas builds the molecular and therapeutic sections — associated genes, protein families, druggability, pathways, interactions, and drug associations — by aggregating over a disease’s associated genes (resolved via GWAS / GenCC / ClinVar / CIViC), and none resolved here. This is expected for antibody-mediated, autoimmune, or otherwise non-gene-defined conditions; the curated evidence for this disease is its clinical features, GWAS susceptibility, and clinical trials (above).
Function
No pathway enrichment — requires an associated-gene cohort.
Therapeutics
No druggable-target or therapeutic data for this disease’s cohort.
Clinical trials & evidence
Clinical trials
Clinical trials: 1.
Phase distribution (across all retrieved trials)
| Phase | Trials |
|---|---|
| PHASE3 | 1 |
Top trials by phase / activity
| NCT | Phase | Status | Title |
|---|---|---|---|
| NCT07281027 | PHASE3 | NOT_YET_RECRUITING | COMparison Between Anakinra and Tocilizumab in NORSE - COMBAT-NORSE |
Drugs tested across these trials (top 30)
| Molecule | Max phase | Trials referencing |
|---|---|---|
| ANAKINRA | 4 | 1 |
| CHEMBL5220618 | 0 | 1 |
Related Atlas pages
- Drugs: Anakinra