Raras
Buscar doenças, sintomas, genes...
Síndrome epiléptico relacionado com infecção febril
ORPHA:163703CID-10 · G40.5CID-11 · 8A63.YPCDT · SUSDOENÇA RARA

É uma doença rara e potencialmente fatal, uma condição cerebral grave causada por epilepsia. Ela se caracteriza pelo início súbito e muito intenso de crises convulsivas tônico-clônicas (que afetam o corpo todo) que se repetem e atingem várias áreas e os dois lados do cérebro. Tudo isso acontece depois de uma doença com febre sem uma causa específica. A síndrome se desenvolve sem uma causa aguda e óbvia (como um problema na estrutura do cérebro, uma toxina ou uma alteração no metabolismo do corpo), em um paciente que nunca teve epilepsia antes. A FIRES é um subtipo do que chamamos de "estado de mal epiléptico refratário de novo início" (NORSE). Isso significa crises epilépticas prolongadas e difíceis de controlar, que aparecem pela primeira vez. Para ser considerada FIRES, é obrigatório que o paciente tenha tido uma infecção com febre antes.

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Introdução

O que você precisa saber de cara

📋

É uma doença rara e potencialmente fatal, uma condição cerebral grave causada por epilepsia. Ela se caracteriza pelo início súbito e muito intenso de crises convulsivas tônico-clônicas (que afetam o corpo todo) que se repetem e atingem várias áreas e os dois lados do cérebro. Tudo isso acontece depois de uma doença com febre sem uma causa específica. A síndrome se desenvolve sem uma causa aguda e óbvia (como um problema na estrutura do cérebro, uma toxina ou uma alteração no metabolismo do corpo), em um paciente que nunca teve epilepsia antes. A FIRES é um subtipo do que chamamos de "estado de mal epiléptico refratário de novo início" (NORSE). Isso significa crises epilépticas prolongadas e difíceis de controlar, que aparecem pela primeira vez. Para ser considerada FIRES, é obrigatório que o paciente tenha tido uma infecção com febre antes.

Pesquisas ativas
1 ensaio
1 total registrados no ClinicalTrials.gov
Publicações científicas
257 artigos
Último publicado: 2026 Mar 11

Escala de raridade

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Germany
Início
All ages
🏥
SUS: Cobertura parcialScore: 45%
PCDT disponívelCID-10: G40.5
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
3 sintomas
💪
Músculos
1 sintomas
🫁
Pulmão
1 sintomas
🛡️
Imunológico
1 sintomas

+ 6 sintomas em outras categorias

Características mais comuns

90%prev.
Regressão do desenvolvimento
Muito frequente (99-80%)
90%prev.
Crise de início focal
Muito frequente (99-80%)
90%prev.
Anormalidade no EEG
Muito frequente (99-80%)
90%prev.
Letargia
Muito frequente (99-80%)
55%prev.
Mialgia
Frequente (79-30%)
55%prev.
Tosse
Frequente (79-30%)
12sintomas
Muito frequente (4)
Frequente (6)
Ocasional (2)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 12 características clínicas mais associadas, ordenadas por frequência.

Regressão do desenvolvimentoDevelopmental regression
Muito frequente (99-80%)90%
Crise de início focalFocal-onset seizure
Muito frequente (99-80%)90%
Anormalidade no EEGEEG abnormality
Muito frequente (99-80%)90%
LetargiaLethargy
Muito frequente (99-80%)90%
MialgiaMyalgia
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico257PubMed
Últimos 10 anos200publicações
Pico202547 papers
Linha do tempo
2026Hoje · 2026📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 31
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Síndrome epiléptico relacionado com infecção febril

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Pesquisa e ensaios clínicos

1 ensaios clínicos encontrados, 1 ativos.

Distribuição por fase
Ver todos no ClinicalTrials.gov
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Publicações mais relevantes

Timeline de publicações
235 papers (10 anos)
#1

From clinical practice to mechanistic insights in ketogenic diets for epilepsy.

The Lancet. Neurology2026 Mar 11

Ketogenic diet therapies, including the classic ketogenic diet, modified Atkins diet, and low glycaemic index treatment, have shown effectiveness in controlling seizures, in part by shifting metabolism from glucose to ketone bodies. They improve mitochondrial function, reduce neuroinflammation, and modulate neurotransmitters. Ketogenic diet therapies also affect the gut microbiome, potentially impacting neurotransmitter balance in ways that contribute to seizure control. A classic ketogenic diet is effective yet restrictive, whereas the modified Atkins diet and low glycaemic index treatment offer greater flexibility, tolerability, and ease of implementation, particularly in resource-limited settings. Cochrane reviews and meta-analyses rank the certainty of randomised controlled trial evidence for ketogenic diet therapies as limited. Early initiation of ketogenic diet therapies, particularly in children or patients with metabolic epilepsies, improves seizure outcomes, potentially preventing further mitochondrial and neuronal damage and reducing the risk of developing resistance to antiseizure medications. Research using rigorous, large-scale comparative effectiveness study designs that accounts for differences in age, epilepsy type, dietary therapy modality, sociodemographic background, care delivery contexts, and that minimises performance and observation bias is needed to resolve remaining uncertainties regarding the efficacy and real-world challenges of ketogenic diet therapies in epilepsy.

#2

[Febrile infection-related epilepsy syndrome (FIRES) with the claustrum sign in a 55-year-old woman: a case report].

Rinsho shinkeigaku = Clinical neurology2026 Mar 11

A 55-year-old woman presented to our clinic with refractory status epilepticus, which developed after her symptoms of influenza had initially improved. Despite various tests, the definite cause could not be identified; however, her clinical presentation preceded by a febrile infection was consistent with that of febrile infection-related epilepsy syndrome (FIRES), a subtype of new-onset refractory status epilepticus (NORSE). Because the brain MRI on day seven revealed a claustrum sign, we administered aggressive immunotherapy. Thereafter, the patient recovered from status epilepticus, and the claustrum sign disappeared on brain MRI. Although the retrograde amnesia and chronic epilepsy persisted, the patient recovered and was able to live at home upon discharge. In patients with refractory status epilepticus that develops after a preceding infection, FIRES should be considered in the differential diagnosis regardless of age at onset, and early aggressive immunotherapy should be considered, especially in patients with a claustrum sign.

#3

An increase in cerebrospinal fluid macrophage migration inhibitory factor levels in pediatric patients with acute neuroinflammatory diseases: A preliminary study.

Brain &amp; development2026 Apr

Macrophage migration inhibitory factor (MIF) is a multifaceted cytokine involved in both the innate and adaptive immune systems. The roles of MIF in neuroinflammatory diseases have been described in adults, but remain unclear in the pediatric population. We herein retrospectively investigated the cerebrospinal fluid (CSF) levels of MIF and 19 types of related cytokines in pediatric patients with acute neuroinflammatory diseases, i.e., bacterial meningitis (n = 6), aseptic meningitis/encephalitis (n = 8), and febrile infection-related epilepsy syndrome (FIRES) (n = 5), and in patients with febrile seizure (n = 15). CSF MIF levels were significantly higher in the three neuroinflammatory disease groups, particularly in the bacterial meningitis group, than in the febrile seizure group. CSF MIF levels were significantly higher in the bacterial meningitis group than in the FIRES group. CSF MIF levels were higher in the FIRES group than in the febrile seizure group, and this result was independent of age. CSF MIF levels correlated more strongly with interleukin-10, an M2 promoter, than with interferon-γ, an M1 promoter. CSF MIF levels were elevated in pediatric patients with acute neuroinflammatory diseases. This is the first study to compare differences in CSF MIF levels among neuroinflammatory diseases and to show relationships between MIF and related cytokines.

#4

[Expert consensus on the diagnosis and treatment of pediatric febrile infection-related epilepsy syndrome (2026)].

Zhonghua er ke za zhi = Chinese journal of pediatrics2026 Mar 02

热性感染相关性癫痫综合征属于感染诱发性脑病综合征相关范畴,以儿童多见,急性期以发热性感染后迅速进展的超难治性癫痫持续状态为特征,慢性期常表现为药物难治性癫痫伴高级皮质功能障碍。在临床工作中,儿科医生对该疾病的认识不足,国内尚缺乏规范统一的诊疗方案。中华医学会儿科学分会神经学组、中华医学会儿科学分会急救学组和中华儿科杂志编辑委员会联合制订了“儿童热性感染相关性癫痫综合征诊疗专家共识(2026)”,提出17条推荐意见,旨在进一步规范该疾病的临床诊治。.

#5

Status Epilepticus in Children With Hemophagocytic Lymphohistiocytosis: Literature Review.

Journal of child neurology2026 Feb 05

Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disorder involving systemic inflammation and multi-organ damage, which often affects the central nervous system (CNS). Familial HLH, which is caused by mutations in genes such as PRF1 and UNC13D, impairs the function of cytotoxic cells, leading to uncontrolled immune activation. CNS involvement occurs in 30% to 73% of cases and manifests as seizures, encephalopathy or status epilepticus, which often mimics other neurologic conditions. This article presents the case of a 28-month-old boy with PRF1-related HLH who developed super-refractory status epilepticus during CNS relapse, despite having undergone a prior hematopoietic stem cell transplantation (HSCT). An initial MRI scan revealed diffuse cortical and cerebellar abnormalities, whereas systemic HLH findings emerged later. Treatment included antiseizure medications, immunotherapy and etoposide, but severe neurologic deficits persisted. A review of the literature on 20 pediatric HLH cases presenting with status epilepticus revealed a variety of presentations, including focal, generalized and febrile infection-related epilepsy syndrome (FIRES). Neuroimaging showed white matter lesions, atrophy or diffusion abnormalities, whereas CSF findings ranged from normal to elevated protein and neopterin levels. Mortality was high (45%), with survivors often experiencing cognitive or motor impairments. HLH relapse can initially present with isolated CNS involvement, emphasizing the need for early neuroimaging and cerebrospinal fluid (CSF) analysis in suspected cases. Despite aggressive treatment, outcomes remain poor, highlighting the need for further research into optimal management strategies.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC148 artigos no totalmostrando 197

2026

From clinical practice to mechanistic insights in ketogenic diets for epilepsy.

The Lancet. Neurology
2026

[Febrile infection-related epilepsy syndrome (FIRES) with the claustrum sign in a 55-year-old woman: a case report].

Rinsho shinkeigaku = Clinical neurology
2026

Metabolism-corrected propofol exposure intensity and long-term intelligence quotient in pediatric febrile infection-related epilepsy syndrome: a retrospective cohort study.

Frontiers in medicine
2026

An increase in cerebrospinal fluid macrophage migration inhibitory factor levels in pediatric patients with acute neuroinflammatory diseases: A preliminary study.

Brain &amp; development
2026

Extreme cryptogenic new onset refractory status epilepticus/febrile infection-related epilepsy syndrome: Evidence of profound neuroinflammation and neuronal injury.

Epilepsia
2026

Pediatric new-onset super refractory status epilepticus: Potential of timely immunotherapy in a resource-limited PICU.

Seizure
2026

[Expert consensus on the diagnosis and treatment of pediatric febrile infection-related epilepsy syndrome (2026)].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2026

Status Epilepticus in Children With Hemophagocytic Lymphohistiocytosis: Literature Review.

Journal of child neurology
2026

Secondary hemophagocytic lymphohistiocytosis concurrent with febrile infection-related epilepsy syndrome in a child.

Seizure
2026

Efficacy differences between tocilizumab and ketogenic diet during acute phase of febrile Infection-Related epilepsy syndrome in children: A retrospective cohort study.

Epilepsy &amp; behavior : E&amp;B
2026

Febrile infection-related epilepsy syndrome (FIRES) in adults: a case report and review of factors associated with survival.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

Lidocaine as a potential anti-seizure therapy for pediatric FIRES: a promising therapeutic approach.

Frontiers in pediatrics
2025

Ketogenic Diet Therapy for Adult Febrile Infection-Related Epilepsy Syndrome (FIRES): A Case Series of Five Patients and Clinical Efficacy Analysis.

Infection and drug resistance
2025

Status Epilepsy Syndromes Made Easy: Pediatric Perspectives.

Children (Basel, Switzerland)
2025

The symmetrical claustrum sign in pediatric febrile infection-related epilepsy syndrome: Diagnostic value and clinical implications.

Epilepsia
2026

Tocilizumab for super-refractory status epilepticus in children with FIRES: A case series.

Seizure
2025

Case Report: Successful multimodal management of FIRES in a pediatric patient using anakinra, ketogenic diet, and induced hypothermia.

Frontiers in pediatrics
2026

Beyond Anakinra and Tocilizumab: Additional Adjunctive Therapies in Pediatric New Onset Refractory Status Epilepticus and Febrile Infection-Related Epilepsy Syndrome - A Narrative Review.

Pediatric neurology
2025

The spectrum of pediatric acute leukoencephalopathy with restricted diffusion presenting as febrile infection-related refractory epilepsy syndrome.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2025

A Case Report of Bartonella henselae-Related New-Onset Refractory Status Epilepticus / Febrile Infection-Related Epilepsy Syndrome Complicated With Stimulus-Induced Rhythmic, Periodic, or Ictal Discharges.

Journal of child neurology
2025

Rediscovering parainfectious encephalopathy in the post-COVID-19 era.

Frontiers in immunology
2025

Febrile Infection-Related Epilepsy Syndrome (FIRES) in a Young Adult: A Case Report Highlighting Advanced Neuroimaging.

Clinical neuroradiology
2025

Vagus nerve stimulation combined with ketogenic diet versus ketogenic diet alone in the treatment of febrile infection-related epilepsy syndrome in children: efficacy and long-term prognosis study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

De novo pathogenic CSF1R variant implicates microglial dysfunction in pathogenesis of febrile infection-related epilepsy syndrome.

Epilepsia
2026

Quality of life over time after new onset refractory status epilepticus.

Epilepsia
2025

Human herpes virus-7-related severe encephalitis diagnosed using mNGS in immunocompetent pediatric patients.

Virology journal
2025

Standard complete blood count to predict long-term outcomes in febrile infection-related epilepsy syndrome (FIRES): A multicenter study.

Epilepsia
2025

Gastrointestinal symptoms are common in patients with new-onset refractory status epilepticus (NORSE).

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

Update in new-onset refractory status epilepticus and febrile infection-related epilepsy syndrome.

Current opinion in pediatrics
2025

[Febrile infection-related epilepsy syndrome].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2025

CSF IL-6 in children with neuroinflammatory conditions.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2025

Immune dysregulation in new-onset refractory status epilepticus (NORSE): current insights and therapeutic perspectives.

Brain &amp; development
2025

[Febrile infection-related epilepsy syndrome caused by hemophagocytic lymphohistiocytosis: a case report].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2024

Clinical characteristics of 27 children with febrile infection-related epilepsy syndrome in a single center.

Pediatric discovery
2025

Retrospective multicenter study on cryptogenic NORSE/FIRES patients treated with anakinra.

Seizure
2025

Adult-Onset Febrile Infection-Related Epilepsy Syndrome Treated with Short-Term Anakinra.

Journal of epilepsy research
2025

Observational Study of Tocilizumab in Children With Febrile Infection-Related Epilepsy Syndrome.

Annals of clinical and translational neurology
2025

Clinical and neuroimaging features of patients with claustrum sign.

Frontiers in neurology
2025

Minocycline in chronic management of febrile infection-related epilepsy syndrome (FIRES): a case series and literature review of treatment strategies.

Acta epileptologica
2025

Comparative clinical outcomes in children with Febrile Infection-Related Epilepsy Syndrome (FIRES).

Epilepsy &amp; behavior : E&amp;B
2025

Secondary sclerosing cholangitis in critically ill patients with febrile infection-related epilepsy syndrome (FIRES): a case series.

Frontiers in neurology
2025

Pediatric new-onset super-refractory status epilepticus (NOSRSE): a case-series.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2025

Performance of cryptogenic new onset refractory status epilepticus score in a Brazilian cohort after testing for antineuronal antibodies with tissue-based and cell-based assays.

Epilepsia
2025

A Case Series and Review of Febrile-Infection Related Epilepsy Syndrome (FIRES).

Children (Basel, Switzerland)
2025

Intrathecal Dexamethasone as a FIRES Extinguisher: A 12-Patient Clinical Experience with Usage of Intrathecal Dexamethasone for Febrile Infection-Related Epilepsy Syndrome.

Neurocritical care
2025

Comparative analysis of new-onset refractory status epilepticus in adult and pediatric patients: immunotherapy timing and functional outcomes.

Journal of neurology
2025

Adult-onset epilepsy with startle-induced seizure after febrile infection-related epilepsy syndrome: A case report.

Epileptic disorders : international epilepsy journal with videotape
2025

Potential inflammatory mechanisms of the ketogenic diet against febrile infection-related epilepsy syndrome.

Acta epileptologica
2025

Diagnosing late-onset PKU in the shadow of refractory seizures.

Radiology case reports
2025

Clinical outcomes of cryptogenic new onset refractory status epilepticus (NORSE) in a tertiary hospital in Singapore: a case series.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2025

Vagus nerve stimulation and fast parameter programming protocol in children with febrile infection-related epilepsy syndrome in ICU.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics
2025

Febrile Infection-Related Epilepsy Syndrome (FIRES) in children: a retrospective cohort study.

European journal of pediatrics
2025

Potential Role of Perampanel in Reducing Barbiturate Dependency in Febrile Infection-Related Epilepsy Syndrome: A Case Report.

Cureus
2025

Combined Systemic Immunotherapy and Intrathecal Dexamethasone in Febrile Infection Related Epilepsy Syndrome.

Annals of clinical and translational neurology
2025

Challenges in Management of Febrile Infection-Related Epilepsy Syndrome: Real-World Experience From a Large Cohort of Pediatric Patients.

Pediatric neurology
2025

Early intrathecal dexamethasone (IT-Dexa) associated with faster recovery and good outcome in an adolescent with febrile infection-related epilepsy syndrome (FIRES).

BMJ case reports
2025

New-Onset Refractory Status Epilepticus and Febrile Infection-Related Epilepsy Syndrome Cases in Children: A Retrospective Cohort Study in South of Iran.

Iranian journal of child neurology
2025

Age-associated differences in FIRES: Characterizing prodromal presentation and long-term outcomes via the web-based NORSE/FIRES Family Registry.

Epilepsia
2025

Navigating life after New-onset refractory status epilepticus (NORSE) and Febrile infection-related epilepsy syndrome (FIRES): Insights from caregiver and patient interviews.

Epilepsy &amp; behavior : E&amp;B
2025

Favorable outcomes and FDG-PET changes following tocilizumab treatment for febrile infection-related epilepsy syndrome in a child.

International immunopharmacology
2024

Corrigendum: A practical approach to in-hospital management of new-onset refractory status epilepticus/febrile infection related epilepsy syndrome.

Frontiers in neurology
2025

Complex Febrile Seizures: Usual and the Unusual.

Indian journal of pediatrics
2024

Myelin oligodendrocyte glycoprotein antibody-associated cerebral cortical encephalitis with super-refractory status epilepticus.

Brain &amp; development
2024

Communication trends over time in new-onset refractory status epilepticus (NORSE): Interim analysis from the NORSE/FIRES Family Registry.

Epilepsy &amp; behavior : E&amp;B
2024

Successful Management of Febrile Infection-Related Epilepsy Syndrome Using Cytokine-Directed Therapy.

Journal of child neurology
2024

NORSE/FIRES: how can we advance our understanding of this devastating condition?

Frontiers in neurology
2024

Hemophagocytic lymphohistiocytosis in an adult patient with super-refractory status epilepticus.

Epilepsia open
2025

International consensus definitions for infection-triggered encephalopathy syndromes.

Developmental medicine and child neurology
2024

The Efficacy of a Ketogenic Diet in a Case With Febrile Infection-Related Epilepsy Syndrome in the Chronic Phase: A Case Report.

Cureus
2024

Use of ketamine in Super Refractory Status Epilepticus: a systematic review.

Neurological research and practice
2024

Serial MRI Changes in Febrile Infection-Related Epilepsy Syndrome (FIRES): A Clinical and Radiologic Exploration.

Annals of Indian Academy of Neurology
2024

Identification of etiologies according to baseline clinical features of pediatric new-onset refractory status epilepticus in single center retrospective study.

Seizure
2024

Steroid-Responsive Involuntary Movements as a Remote Symptom of Febrile Infection-Related Epilepsy Syndrome.

Cureus
2024

Autoimmune-associated seizure disorders.

Epileptic disorders : international epilepsy journal with videotape
2024

FADD gene pathogenic variants causing recurrent febrile infection-related epilepsy syndrome: Case report and literature review.

Epilepsia
2024

NORSE seasonality may vary geographically in adults.

Epilepsia open
2024

Comparative analysis of patients with new onset refractory status epilepticus preceded by fever (febrile infection-related epilepsy syndrome) versus without prior fever: An interim analysis.

Epilepsia
2024

Case report: Febrile infection-related epilepsy syndrome in a 14-year-old girl with multiple organ failure and lethal outcome.

Frontiers in neuroscience
2024

Efficacy and safety of ketamine for pediatric and adolescent super-refractory status epilepticus and the effect of cerebral inflammatory conditions.

Journal of the neurological sciences
2024

Status epilepticus: what's new for the intensivist.

Current opinion in critical care
2024

Second-line immunotherapy in new onset refractory status epilepticus.

Epilepsia
2024

Febrile infection-related epilepsy syndrome with claustrum lesion: an underdiagnosed inflammatory encephalopathy.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2023

The Beneficial Outcome of Subsequent Treatment with Anakinra during the Chronic Phase of Febrile Infection-Related Epilepsy Syndrome (FIRES): A Case Report.

Neurology international
2023

Neuroinflammation and status epilepticus: a narrative review unraveling a complex interplay.

Frontiers in pediatrics
2023

Refractory Status Epilepticus Associated With a Pathogenic Variant in TNFRSF13B.

Cureus
2024

Severe, Refractory Seizures: New-Onset Refractory Status Epilepticus and Febrile Infection-Related Epilepsy Syndrome.

The Medical clinics of North America
2024

Rasmussen's syndrome treated with anakinra.

Journal of neurology
2024

Spectrum, Evolution, and Clinical Relationship of Magnetic Resonance Imaging in 31 Children with Febrile Infection-Related Epilepsy Syndrome.

Neuropediatrics
2023

Multimodal Management of Febrile Infection-Related Epilepsy Syndrome in a 17-Year-Old Male.

Cureus
2023

[Electroencephalogram characteristics of 26 children with febrile infection-related epilepsy syndrome].

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics
2023

Febrile infection-related epilepsy syndrome in childhood: A clinical review and practical approach.

Seizure
2023

Timing of therapeutic interventions against infection-triggered encephalopathy syndrome: a scoping review of the pediatric literature.

Frontiers in neuroscience
2023

Severe and rare neurological manifestations following COVID-19 infection in children: A Malaysian tertiary centre experience.

Brain &amp; development
2023

No evidence of neuronal/glial autoantibodies in febrile infection-related epilepsy syndrome (FIRES): a prospective clinic-serologic analysis.

Frontiers in neuroscience
2023

Real-world experience with cannabidiol as add-on treatment in drug-resistant epilepsy.

Seizure
2023

The Claustrum Sign in Febrile Infection-Related Epilepsy Syndrome (FIRES).

Journal of the Belgian Society of Radiology
2023

Neuromodulation in new-onset refractory status epilepticus.

Frontiers in neurology
2023

Coronavirus Disease 2019-Associated Neurological Manifestations in Children: A Large Single-Center Experience With Rare Cases.

Pediatric neurology
2023

CSF neopterin and quinolinic acid are biomarkers of neuroinflammation and neurotoxicity in FIRES and other infection-triggered encephalopathy syndromes.

Annals of clinical and translational neurology
2023

Claustrum sign in febrile infection-related epilepsy syndrome (FIRES).

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2023

A practical approach to in-hospital management of new-onset refractory status epilepticus/febrile infection related epilepsy syndrome.

Frontiers in neurology
2023

Claustrum sparing sign in seronegative limbic encephalitis.

eNeurologicalSci
2023

Intrathecal Dexamethasone in Febrile Infection-Related Epilepsy Syndrome: A Case Report.

Neurology. Clinical practice
2023

Perspective: Vagal nerve stimulation in the treatment of new-onset refractory status epilepticus.

Frontiers in neurology
2023

Ketogenic diet for super-refractory status epilepticus (SRSE) with NORSE and FIRES: Single tertiary center experience and literature data.

Frontiers in neurology
2023

Early identification of NORSE and transfer to care setting with appropriate supports: A proposed algorithm.

Frontiers in neurology
2023

Neuropathology of New-Onset Refractory Status Epilepticus (NORSE).

Journal of neurology
2023

Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus.

Frontiers in neurology
2023

Cannabidiol in the acute phase of febrile infection-related epilepsy syndrome (FIRES).

Epilepsia open
2023

Review and standard operating procedures for collection of biospecimens and analysis of biomarkers in new onset refractory status epilepticus.

Epilepsia
2023

An in vitro model of drug-resistant seizures for selecting clinically effective antiseizure medications in Febrile Infection-Related Epilepsy Syndrome.

Frontiers in neurology
2023

The seasonality of new-onset refractory status epilepticus (NORSE).

Epilepsia
2023

Long-term neuropsychological outcomes in children with febrile infection-related epilepsy syndrome (FIRES) treated with anakinra.

Frontiers in neurology
2023

Treatment of new onset refractory status epilepticus/febrile infection-related epilepsy syndrome with tocilizumab in a child and a young adult.

Epilepsia
2023

Drug-resistant seizures associated with hyperinflammatory monocytes in FIRES.

Annals of clinical and translational neurology
2023

Cytokines in New-Onset Refractory Status Epilepticus Predict Outcomes.

Annals of neurology
2023

Bridging the Gap: Tailoring an Approach to Treatment in Febrile Infection-Related Epilepsy Syndrome.

Neurology
2023

New-onset refractory status epilepticus and febrile infection-related epilepsy syndrome.

Current opinion in neurology
2023

Myoclonic super-refractory status epilepticus with favourable evolution in a teenager with FIRES: Is the association of vagus nerve stimulation and cannabidiol effective?

Brain &amp; development
2023

Inflammatory epilepsy (FIRES) and haemophagocytic lymphohistiocytosis (HLH): an adult case.

BMJ case reports
2022

Long-term outcomes of adult cryptogenic febrile infection-related epilepsy syndrome (FIRES).

Frontiers in neurology
2022

Febrile Seizures in Children: A Review.

Cureus
2022

Early clinical features of new-onset refractory status epilepticus (NORSE) in adults.

BMC neurology
2022

Febrile infection-related Epilepsy Syndrome (FIRES): a severe encephalopathy with status epilepticus. Literature review and presentation of two new cases.

Italian journal of pediatrics
2023

Surviving status epilepticus: The patient and family perspective.

Epilepsy &amp; behavior : E&amp;B
2022

Cannabidiol in refractory status epilepticus: A review of clinical experiences.

Seizure
2022

Connections Between Febrile Infection-Related Epilepsy Syndrome and Autoimmune Encephalitis. A Case Report of a Child With New Anti-neuronal Antibodies.

Frontiers in pediatrics
2022

International consensus recommendations for management of New Onset Refractory Status Epilepticus (NORSE) incl. Febrile Infection-Related Epilepsy Syndrome (FIRES): Statements and Supporting Evidence.

Epilepsia
2022

International consensus recommendations for management of New Onset Refractory Status Epilepticus (NORSE) including Febrile Infection-Related Epilepsy Syndrome (FIRES): Summary and Clinical Tools.

Epilepsia
2022

DNM1L mutation presenting as progressive myoclonic epilepsy associated with acute febrile infection-related epilepsy syndrome.

Epileptic disorders : international epilepsy journal with videotape
2022

Combined immunoglobulin and plasmapheresis treatment for Febrile Infection-Related Epilepsy Syndrome (FIRES).

Transfusion and apheresis science : official journal of the World Apheresis Association : official journal of the European Society for Haemapheresis
2022

Enteral lorazepam is a promising weaning strategy for midazolam-responsive febrile infection-related epilepsy syndrome (FIRES): a case series.

Epileptic disorders : international epilepsy journal with videotape
2022

Anakinra and tocilizumab in the chronic phase of febrile infection-related epilepsy syndrome (FIRES): Effectiveness and safety from a case-series.

Seizure
2022

Anti-inflammatory and immune-mediated therapy for a case of febrile infection-related epilepsy syndrome with rapid recurrence.

Clinical case reports
2022

Fever-Associated Seizures or Epilepsy: An Overview of Old and Recent Literature Acquisitions.

Frontiers in pediatrics
2022

A case of febrile infection-related epilepsy syndrome (FIRES) in young adult: still a diagnostic and therapeutic challenge.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
2022

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.

Epilepsia
2022

Multifocal multilobar focal cortical dysplasia type IIa in Febrile Infection Related Epilepsy Syndrome (FIRES).

Clinical neurology and neurosurgery
2022

An ultra-long new onset refractory status epilepticus: Winning the battle but losing the war?

Epilepsy &amp; behavior reports
2022

Zebras Seize the Day: Rare Causes of Status Epilepticus Across the Continuum of Critical Care.

Critical care clinics
2022

Targeting Inflammatory Mediators in Epilepsy: A Systematic Review of Its Molecular Basis and Clinical Applications.

Frontiers in neurology
2022

Fighting autoinflammation in FIRES: The role of interleukins and early immunomodulation.

Epilepsy &amp; behavior reports
2022

Ketogenic Diet for a Young Adult Patient With Chronic-Phase Febrile Infection-Related Epilepsy Syndrome.

Cureus
2022

[A case of febrile infection-related epilepsy syndrome requiring prolonged intensive care management: a trial of intravenous ketamine and intrathecal dexamethasone therapy].

Rinsho shinkeigaku = Clinical neurology
2022

Specific characteristics and current diagnostic and treatment modalities performance of super refractory status epilepticus in children: A comparative study.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2022

New-onset refractory status epilepticus (NORSE) and febrile infection-related epilepsy syndrome (FIRES) of unknown aetiology: A comparison of the incomparable?

Seizure
2022

Teaching NeuroImage: Claustrum Sign in Febrile Infection-Related Epilepsy Syndrome.

Neurology
2022

Deep brain stimulation of the centromedian thalamic nucleus for the treatment of FIRES.

Epilepsia open
2021

Utility and Safety of Perampanel in Pediatric FIRES and Other Drug-Resistant Epilepsies.

Child neurology open
2021

A retrospective study of 92 children with new-onset refractory status epilepticus.

Epilepsy &amp; behavior : E&amp;B
2022

Vagus nerve stimulation for super-refractory status epilepticus in febrile infection-related epilepsy syndrome: a pediatric case report and literature review.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2021

Ketogenic diet (KD) therapy in the acute phase of febrile infection-related epilepsy syndrome (FIRES): a case report.

Translational pediatrics
2022

Unraveling the enigma of new-onset refractory status epilepticus: a systematic review of aetiologies.

European journal of neurology
2021

Sevoflurane as bridge therapy for plasma exchange and Anakinra in febrile infection-related epilepsy syndrome.

Epilepsia open
2021

Vaccination in acute immune-mediated/inflammatory disorders of the central nervous system.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2021

Dramatic Course of Paediatric Cryptogenic Febrile Infection-Related Epilepsy Syndrome with Unusual Chronic Phase Presentation-A Case Report with Literature Study.

Brain sciences
2021

Therapeutic plasma exchange in clinical pediatric neurology practice: Experience from a tertiary referral hospital.

Clinical neurology and neurosurgery
2021

Report of a Child With Febrile Status Epilepticus and Post-COVID Multi-System Inflammatory Syndrome.

Child neurology open
2021

Considering safety and patient tolerance in the use of ketogenic diet in the management of refractory and super-refractory status epilepticus: a systematic review.

Expert review of neurotherapeutics
2021

Towards a Treatment for Neuroinflammation in Epilepsy: Interleukin-1 Receptor Antagonist, Anakinra, as a Potential Treatment in Intractable Epilepsy.

International journal of molecular sciences
2021

Seizure control after late introduction of anakinra in a patient with adult onset Rasmussen's encephalitis.

Epilepsy &amp; behavior reports
2021

Hypothesis: Febrile infection-related epilepsy syndrome is a microglial NLRP3 inflammasome/IL-1 axis-driven autoinflammatory syndrome.

Clinical &amp; translational immunology
2021

Parental perception of FIRES outcomes, emotional states, and social media usage.

Epilepsia open
2021

Permanent loss of independence in adult febrile-infection-related epilepsy syndrome survivors: an underestimated and unsolved challenge.

European journal of neurology
2021

Clinical presentation of new onset refractory status epilepticus in children (the pSERG cohort).

Epilepsia
2021

Super-refractory status epilepticus in autoimmune encephalitis treated with interleukin-1 receptor antagonist, anakinra.

Epileptic disorders : international epilepsy journal with videotape
2021

Dietary Management of Children With Super-Refractory Status Epilepticus: A Systematic Review and Experience in a Single UK Tertiary Centre.

Frontiers in neurology
2021

How to Help Your Patients Enroll in the New-Onset Refractory Status Epilepticus (NORSE) and Febrile Infection-Related Epilepsy Syndrome (FIRES) Family Registry, and Other Rare Epilepsy Registries.

Epilepsy currents
2021

Proposal to optimize evaluation and treatment of Febrile infection-related epilepsy syndrome (FIRES): A Report from FIRES workshop.

Epilepsia open
2021

Super refractory status in a case of Febrile Infection-Related Epilepsy Syndrome due to hemophagocytic lymphocytic histiocytosis.

Epilepsia open
2021

New-onset refractory status epilepticus (NORSE).

Practical neurology
2020

Diagnosis and Treatment of Status Epilepticus.

Journal of epilepsy research
2021

Intrathecal dexamethasone therapy for febrile infection-related epilepsy syndrome.

Annals of clinical and translational neurology
2020

Anakinra usage in febrile infection related epilepsy syndrome: an international cohort.

Annals of clinical and translational neurology
2021

Claustrum hyperintensity: a rare radiological correlate in Niemann-Pick disease.

BMJ case reports
2020

Interleukin-6 Blockade With Tocilizumab in Anakinra-Refractory Febrile Infection-Related Epilepsy Syndrome (FIRES).

Child neurology open
2020

Improved seizure burden and cognitive performance in a child treated with responsive neurostimulation (RNS) following febrile infection related epilepsy syndrome (FIRES).

Epileptic disorders : international epilepsy journal with videotape
2021

Inflammation, ictogenesis, and epileptogenesis: An exploration through human disease.

Epilepsia
2021

Possible Role of High-Dose Barbiturates and Early Administration of Parenteral Ketogenic Diet for Reducing Development of Chronic Epilepsy in Febrile Infection-Related Epilepsy Syndrome: A Case Report.

Neuropediatrics
2020

Ketogenic diet and Neuroinflammation.

Epilepsy research
2020

An atypical case of febrile infection-related epilepsy syndrome following acute encephalitis: impact of physiotherapy in regaining locomotor abilities in a patient with neuroregression.

The Pan African medical journal
2020

Whole-exome and HLA sequencing in Febrile infection-related epilepsy syndrome.

Annals of clinical and translational neurology
2020

Diminished toll-like receptor response in febrile infection-related epilepsy syndrome (FIRES).

Biomedical journal
2020

Application of ketogenic diets for pediatric neurocritical care.

Biomedical journal
2020

Protecting the blossoming brain - Neurocritical care in children.

Biomedical journal
2020

Efficacy of different treatment modalities for acute and chronic phases of the febrile infection-related epilepsy syndrome: A systematic review.

Seizure
2020

Neurocritical care and target immunotherapy for febrile infection-related epilepsy syndrome.

Biomedical journal
2020

Therapeutic hypothermia for pediatric refractory status epilepticus May Ameliorate post-status epilepticus epilepsy.

Biomedical journal
2020

Extinguishing Febrile Infection-Related Epilepsy Syndrome: Pipe Dream or Reality?

Seminars in neurology
2020

Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort.

Epilepsia
2019

Febrile Infection-Related Epilepsy Syndrome Treated Successfully With Anakinra in a 21-Year-Old Woman.

WMJ : official publication of the State Medical Society of Wisconsin
2019

Centromedian thalamic nuclei deep brain stimulation and Anakinra treatment for FIRES - Two different outcomes.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society
2019

Febrile infection-related epilepsy syndrome (FIRES): prevalence, impact and management strategies.

Neuropsychiatric disease and treatment
2019

Etiology is the key determinant of neuroinflammation in epilepsy: Elevation of cerebrospinal fluid cytokines and chemokines in febrile infection-related epilepsy syndrome and febrile status epilepticus.

Epilepsia
2019

Inflammation and reactive oxygen species in status epilepticus: Biomarkers and implications for therapy.

Epilepsy &amp; behavior : E&amp;B
2019

Therapeutic effect of Anakinra in the relapsing chronic phase of febrile infection-related epilepsy syndrome.

Epilepsia open
2019

Ketogenic Diet as a Treatment for Super-Refractory Status Epilepticus in Febrile Infection-Related Epilepsy Syndrome.

Frontiers in neurology

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Doenças relacionadas

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Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.

  1. From clinical practice to mechanistic insights in ketogenic diets for epilepsy.
    The Lancet. Neurology· 2026· PMID 41831475mais citado
  2. [Febrile infection-related epilepsy syndrome (FIRES) with the claustrum sign in a 55-year-old woman: a case report].
    Rinsho shinkeigaku = Clinical neurology· 2026· PMID 41813187mais citado
  3. An increase in cerebrospinal fluid macrophage migration inhibitory factor levels in pediatric patients with acute neuroinflammatory diseases: A preliminary study.
    Brain &amp; development· 2026· PMID 41707435mais citado
  4. [Expert consensus on the diagnosis and treatment of pediatric febrile infection-related epilepsy syndrome (2026)].
    Zhonghua er ke za zhi = Chinese journal of pediatrics· 2026· PMID 41674414mais citado
  5. Status Epilepticus in Children With Hemophagocytic Lymphohistiocytosis: Literature Review.
    Journal of child neurology· 2026· PMID 41642868mais citado
  6. Metabolism-corrected propofol exposure intensity and long-term intelligence quotient in pediatric febrile infection-related epilepsy syndrome: a retrospective cohort study.
    Front Med (Lausanne)· 2026· PMID 41767518recente
  7. Extreme cryptogenic new onset refractory status epilepticus/febrile infection-related epilepsy syndrome: Evidence of profound neuroinflammation and neuronal injury.
    Epilepsia· 2026· PMID 41697173recente
  8. Pediatric new-onset super refractory status epilepticus: Potential of timely immunotherapy in a resource-limited PICU.
    Seizure· 2026· PMID 41679100recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:163703(Orphanet)
  2. MONDO:0015584(MONDO)
  3. Epilepsia(PCDT · Ministério da Saúde)
  4. GARD:11005(GARD (NIH))
  5. Busca completa no PubMed(PubMed)
  6. Artigo Wikipedia(Wikipedia)
  7. Q17143712(Wikidata)

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Síndrome epiléptico relacionado com infecção febril
Compêndio · Raras BR

Síndrome epiléptico relacionado com infecção febril

ORPHA:163703 · MONDO:0015584
🇧🇷 Brasil SUS
Geral
Prevalência
Unknown
Herança
Not applicable
CID-10
G40.5 · Síndromes epilépticas especiais
CID-11
Ensaios
1 ativos
Início
All ages
Prevalência
0.0 (Germany)
MedGen
UMLS
C4049262
Repurposing
14 candidatos
aminohydroxybutyric-acidcarbonic anhydrase inhibitor
diclofenamidesuccinimide antiepileptic
ethosuximideglutamate receptor antagonist
+11 outros
EuropePMC
Wikidata
Wikipedia
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