Febrile infection-related epilepsy syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: AERRPS
FIRES
Fever-induced refractory epileptic encephalopathy in school-aged children
Acute non-herpetic encephalitis with severe refractory status epilepticus
Acute encephalitis with refractory repetitive partial seizures
Devastating epileptic encephalopathy in school-aged children
Idiopathic catastrophic epileptic encephalopathy
Severe refractory status epilepticus owing to presumed encephalitis
DESC syndrome
Number of Symptoms 12
OrphanetNr: 163703
OMIM Id:
ICD-10:
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Not applicable
[Orphanet]
Age of onset: All ages
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Acute encephalopathy with inflammation-mediated status epilepticus
 -Rare genetic disease
 -Rare neurologic disease
Childhood-onset epilepsy syndrome
 -Rare genetic disease
 -Rare neurologic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000246) Sinusitis Frequent [Orphanet] 73 / 7739
2
 (HPO:0000708) Behavioral abnormality Frequent [Orphanet] 212 / 7739
3
 (HPO:0002353) EEG abnormality Very frequent [Orphanet] 188 / 7739
4
 (HPO:0002315) Headache Frequent [Orphanet] 175 / 7739
5
 (HPO:0001250) Seizures Very frequent [Orphanet] 1245 / 7739
6
 (HPO:0004372) Reduced consciousness/confusion Very frequent [Orphanet] 73 / 7739
7
 (HPO:0100543) Cognitive impairment Very frequent [Orphanet] 230 / 7739
8
 (HPO:0001695) Cardiac arrest Occasional [Orphanet] 87 / 7739
9
 (HPO:0001945) Fever Frequent [Orphanet] 218 / 7739
10
 (HPO:0002960) Autoimmunity Occasional [Orphanet] 78 / 7739
11
 (HPO:0003326) Myalgia Frequent [Orphanet] 143 / 7739
12
 ([DEL]MedDRA:10011224) Cough Frequent [Orphanet] 70 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information: