MCID: FBR064
MIFTS: 30

Febrile Infection-Related Epilepsy Syndrome

Categories: Rare diseases, Neuronal diseases

Aliases & Classifications for Febrile Infection-Related Epilepsy Syndrome

MalaCards integrated aliases for Febrile Infection-Related Epilepsy Syndrome:

Name: Febrile Infection-Related Epilepsy Syndrome 53 59
Acute Encephalitis with Refractory Repetitive Partial Seizures 53 59 37
Acute Non-Herpetic Encephalitis with Severe Refractory Status Epilepticus 53 59
Fever-Induced Refractory Epileptic Encephalopathy in School-Aged Children 53 59
Severe Refractory Status Epilepticus Owing to Presumed Encephalitis 53 59
Devastating Epileptic Encephalopathy in School-Aged Children 53 59
Idiopathic Catastrophic Epileptic Encephalopathy 53 59
Desc Syndrome 53 59
Aerrps 53 59
Fires 53 59
Status Epilepticus Owing to Presumed Encephalitis 53

Characteristics:

Orphanet epidemiological data:

59
febrile infection-related epilepsy syndrome
Inheritance: Not applicable; Prevalence: 1-9/1000000 (Germany),1-9/100000 (Europe); Age of onset: All ages; Age of death: normal life expectancy;

HPO:

32
febrile infection-related epilepsy syndrome:
Mortality/Aging sudden death


Classifications:

Orphanet: 59  
Rare neurological diseases


Summaries for Febrile Infection-Related Epilepsy Syndrome

NIH Rare Diseases : 53 Febrile infection-related epilepsysyndrome (FIRES) is a severe brain disorder that develops in previously healthy children after a fever. This syndrome causes a very sudden (acute) onset of nearly continuous seizures (status epilepticus) which do not respond to seizure medications (medications to stop seizures). When seizures cannot be controlled by medication, they are called refractory seizures or refractory epilepsy. Sadly many children with FIRES do not live past the acute phase. The acute phase of FIRES is followed by a chronic phase in which the number of seizures decreases, developing into chronic, refractory focal epilepsy.  The seizures continue to be hard to control with medications. During the chronic phase, memory and intellectual ability often decline. FIRES can also cause psychiatric disorders or problems with motor skills. The cause of FIRES is unknown, but may be related to infection, genetic susceptibility, an autoimmune disorder, or a problem with metabolism. FIRES affects children between the ages of 3-15 years old. Although seizure medications are not able to completely control the epilepsy, some children do respond to a ketogenic diet, especially if begun early after the initial acute phase. Therapies such as behavioral, physical and occupational therapy as well as other treatments may be recommended depending on the symptoms which develop during the chronic phase. There have been rare cases of FIRES in which the children have fully recovered.

MalaCards based summary : Febrile Infection-Related Epilepsy Syndrome, also known as acute encephalitis with refractory repetitive partial seizures, is related to epilepsy and status epilepticus. An important gene associated with Febrile Infection-Related Epilepsy Syndrome is PCDH19 (Protocadherin 19). Affiliated tissues include brain and testes, and related phenotypes are sinusitis and behavioral abnormality

Wikipedia : 76 Febrile infection-related epilepsy syndrome (FIRES) is a form of epilepsy that affects children three to... more...

Related Diseases for Febrile Infection-Related Epilepsy Syndrome

Graphical network of the top 20 diseases related to Febrile Infection-Related Epilepsy Syndrome:



Diseases related to Febrile Infection-Related Epilepsy Syndrome

Symptoms & Phenotypes for Febrile Infection-Related Epilepsy Syndrome

Human phenotypes related to Febrile Infection-Related Epilepsy Syndrome:

59 32 (show all 12)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 sinusitis 59 32 frequent (33%) Frequent (79-30%) HP:0000246
2 behavioral abnormality 59 32 frequent (33%) Frequent (79-30%) HP:0000708
3 lethargy 59 32 hallmark (90%) Very frequent (99-80%) HP:0001254
4 fever 59 32 frequent (33%) Frequent (79-30%) HP:0001945
5 headache 59 32 frequent (33%) Frequent (79-30%) HP:0002315
6 eeg abnormality 59 32 hallmark (90%) Very frequent (99-80%) HP:0002353
7 developmental regression 59 32 hallmark (90%) Very frequent (99-80%) HP:0002376
8 autoimmunity 59 32 occasional (7.5%) Occasional (29-5%) HP:0002960
9 myalgia 59 32 frequent (33%) Frequent (79-30%) HP:0003326
10 focal seizures 59 32 hallmark (90%) Very frequent (99-80%) HP:0007359
11 cough 59 32 frequent (33%) Frequent (79-30%) HP:0012735
12 sudden death 59 Occasional (29-5%)

Drugs & Therapeutics for Febrile Infection-Related Epilepsy Syndrome

Search Clinical Trials , NIH Clinical Center for Febrile Infection-Related Epilepsy Syndrome

Genetic Tests for Febrile Infection-Related Epilepsy Syndrome

Anatomical Context for Febrile Infection-Related Epilepsy Syndrome

MalaCards organs/tissues related to Febrile Infection-Related Epilepsy Syndrome:

41
Brain, Testes

Publications for Febrile Infection-Related Epilepsy Syndrome

Articles related to Febrile Infection-Related Epilepsy Syndrome:

(show all 32)
# Title Authors Year
1
New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES): State of the art and perspectives. ( 29476535 )
2018
2
Febrile infection-related epilepsy syndrome (FIRES): therapeutic complications, long-term neurological and neuroimaging follow-up. ( 29453111 )
2018
3
Proposed consensus definitions for new-onset refractory status epilepticus (NORSE), febrile infection-related epilepsy syndrome (FIRES), and related conditions. ( 29399791 )
2018
4
Febrile Infection-Related Epilepsy Syndrome (FIRES) with Multifocal Subcortical Infarcts, A New Imaging Phenotype. ( 29980149 )
2018
5
Febrile infection-related epilepsy syndrome (FIRES) with super-refractory status epilepticus revealing autoimmune encephalitis due to GABA<sub>A</sub>R antibodies. ( 29203057 )
2018
6
Febrile Infection-Related Epilepsy Syndrome (FIRES): An Overview of Treatment and Recent Patents. ( 29745347 )
2018
7
Febrile infection-related epilepsy syndrome (FIRES) treated with immunomodulation in an 8-year-old boy and review of the literature. ( 29624228 )
2017
8
Febrile Infection-Related Epilepsy Syndrome (FIRES): A Literature Review and Case Study. ( 28898171 )
2017
9
Febrile Infection-Related Epilepsy Syndrome: Clinical Review and Hypotheses of Epileptogenesis. ( 27919115 )
2016
10
Clinical profile and treatment outcome of febrile infection-related epilepsy syndrome in South Indian children. ( 27293328 )
2016
11
Febrile infection-related epilepsy syndrome treated with anakinra. ( 27770579 )
2016
12
Effectiveness of Electroconvulsive Therapy for Refractory Status Epilepticus in Febrile Infection-Related Epilepsy Syndrome. ( 27434885 )
2016
13
Marked improvement in febrile infection-related epilepsy syndrome after lidocaine plus MgSO4 treatment in a 12-year-old girl. ( 27358770 )
2016
14
Cannabidiol as a Potential Treatment for Febrile Infection-Related Epilepsy Syndrome (FIRES) in the Acute and Chronic Phases. ( 27655472 )
2016
15
Hippocampal Changes in Febrile Infection-Related Epilepsy Syndrome (FIRES). ( 26379807 )
2015
16
Mechanisms of epileptogenesis in pediatric epileptic syndromes: Rasmussen encephalitis, infantile spasms, and febrile infection-related epilepsy syndrome (FIRES). ( 24639375 )
2014
17
Cognitive outcomes in febrile infection-related epilepsy syndrome treated with the ketogenic diet. ( 25332495 )
2014
18
Lidocaine Treatment in Refractory Status Epilepticus Resulting from Febrile Infection-Related Epilepsy Syndrome: A Case Report and Follow-Up. ( 25343330 )
2014
19
Reversible splenic lesion in a patient with Febrile Infection-Related Epilepsy Syndrome (FIRES). ( 23794447 )
2013
20
The expanding spectrum of febrile infection-related epilepsy syndrome (FIRES). ( 23237766 )
2013
21
Febrile infection-related epilepsy syndrome: a study of 12 patients. ( 23643626 )
2013
22
Rapid Onset of Hippocampal Atrophy in Febrile-Infection Related Epilepsy Syndrome (FIRES). ( 23400244 )
2013
23
Febrile infection-related epilepsy syndrome without detectable autoantibodies and response to immunotherapy: a case series and discussion of epileptogenesis in FIRES. ( 22911482 )
2012
24
Long-term follow-up of febrile infection-related epilepsy syndrome. ( 22191582 )
2012
25
Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations. ( 23066759 )
2012
26
Therapeutic hypothermia for febrile infection-related epilepsy syndrome in two patients. ( 23127267 )
2012
27
Febrile infection-related epilepsy syndrome is not caused by SCN1A mutations. ( 22386634 )
2012
28
Febrile infection-related epilepsy syndrome (FIRES): pathogenesis, treatment, and outcome: a multicenter study on 77 children. ( 21883180 )
2011
29
Febrile infection-related epilepsy syndrome (FIRES): does duration of anesthesia affect outcome? ( 21967356 )
2011
30
Acute-onset epilepsy triggered by fever mimicking FIRES (febrile infection-related epilepsy syndrome): the role of protocadherin 19 (PCDH19) gene mutation. ( 21777234 )
2011
31
Febrile infection-related epilepsy syndrome (FIRES): a nonencephalitic encephalopathy in childhood. ( 20345937 )
2010
32
A case of acute encephalitis with refractory, repetitive partial seizures, presenting autoantibody to glutamate receptor Gluepsilon2. ( 16198211 )
2005

Variations for Febrile Infection-Related Epilepsy Syndrome

Expression for Febrile Infection-Related Epilepsy Syndrome

Search GEO for disease gene expression data for Febrile Infection-Related Epilepsy Syndrome.

Pathways for Febrile Infection-Related Epilepsy Syndrome

GO Terms for Febrile Infection-Related Epilepsy Syndrome

Sources for Febrile Infection-Related Epilepsy Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 ExPASy
19 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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