Doença autoimune e inflamatória rara que causa convulsões epilépticas. O sistema imunológico ataca o cérebro, levando à inflamação e disfunção neurológica.
Introdução
O que você precisa saber de cara
Visão geral
A doença autoimune e inflamatória com epilepsia é uma condição rara na qual o sistema imunológico ataca o próprio sistema nervoso central, desencadeando inflamação e crises epilépticas recorrentes. Essa condição faz parte de um grupo de doenças neurológicas em que a epilepsia é um sintoma central, associada a processos autoimunes e inflamatórios. Ainda não há dados precisos sobre sua prevalência na população, e a forma de herança genética não foi estabelecida.[1]
Sinais e sintomas
Os principais sintomas são crises epilépticas de diferentes tipos, que podem variar em frequência e intensidade. A inflamação no sistema nervoso central pode causar também alterações cognitivas, comportamentais e neurológicas, como confusão, perda de memória e dificuldades de concentração. Como a doença é autoimune, os sintomas podem surgir de forma aguda ou progressiva, dependendo da atividade inflamatória.[1]
Causas genéticas
Até o momento, não foram identificados genes específicos associados a esta doença. As bases genéticas ainda são desconhecidas, e a condição não está ligada a uma herança mendeliana clara. Pesquisas em andamento podem, no futuro, revelar fatores genéticos envolvidos no desencadeamento da resposta autoimune e inflamatória que leva à epilepsia.[1][2]
Diagnóstico
O diagnóstico é clínico, baseado na presença de crises epilépticas associadas a evidências de inflamação ou autoimunidade no sistema nervoso central. Exames como ressonância magnética, análise do líquido cefalorraquidiano e testes sorológicos para anticorpos antineuronais podem auxiliar na confirmação. Não há testes genéticos validados para essa condição, e a Classificação Internacional de Doenças (CID-10) não possui um código específico para ela.[1]
Tratamento e manejo
O tratamento visa controlar as crises epilépticas e reduzir a inflamação autoimune. Medicamentos anticonvulsivantes são frequentemente utilizados, e a escolha depende do tipo de crise e da resposta individual. Em alguns casos, terapias imunomoduladoras (como corticosteroides ou imunoglobulina intravenosa) podem ser consideradas para diminuir a atividade inflamatória. O acompanhamento deve ser multidisciplinar, envolvendo neurologista, imunologista e outros especialistas conforme necessário.[1]
Tratamentos citados na literatura
A literatura científica, por meio de mineração de textos (PubTator3), associa os seguintes fármacos a esta doença, com base no número de publicações indicado entre parênteses. Importante: essas são associações observadas em estudos, e não recomendações de tratamento. Os fármacos listados são: aminohydroxybutyric-acid, diclofenamide, ethosuximide, felbamate, fosphenytoin, lamotrigine, metharbital, phenacemide, pyridoxal, stiripentol, topiramate, valproic-acid, valpromide e zonisamide.[1]
Prognóstico e qualidade de vida
O prognóstico varia conforme a gravidade da inflamação e a resposta ao tratamento. Com o controle adequado das crises e da atividade autoimune, muitos pacientes podem manter uma qualidade de vida satisfatória. No entanto, crises refratárias ou inflamação persistente podem levar a déficits neurológicos progressivos. O suporte psicológico e social é fundamental para lidar com os desafios diários da condição.[1]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
A doença autoimune e inflamatória com epilepsia é uma categoria clínica que reúne desordens em que o sistema de defesa e a inflamação afetam o cérebro, provocando crises epilépticas. Por se tratar de um grupo amplo de condições, os sintomas e a evolução podem variar entre as pessoas afetadas. No Brasil, existe um protocolo clínico geral do SUS para epilepsia, embora esta condição específica não conste na lista oficial de diretrizes para doenças raras. Medicamentos como a lamotrigina contam com registro regular na ANVISA para comercialização no território nacional.
Doença autoimune e inflamatória rara que causa convulsões epilépticas. O sistema imunológico ataca o cérebro, levando à inflamação e disfunção neurológica.
Tem tratamento?
Encontrou um erro ou informação desatualizada? Sugira uma correção →
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
Linha do tempo da pesquisa
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
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Doença autoimune e inflamatória com epilepsia
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
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Maternal Diabetes and Risk of Epilepsy in Offspring.
Evidence on the association between maternal diabetes and neurodevelopmental disorders in offspring, particularly epilepsy, remains limited and heterogeneous. Moreover, most studies have not distinguished among diabetes subtypes-type 1 (T1DM), type 2 (T2DM), and gestational diabetes mellitus (GDM)-which have distinct etiologies. This study examines the association among these diabetes subtypes and epilepsy in offspring. In a retrospective birth cohort of all in-hospital live births between 2002 and 2018 in Ontario, Canada's most populous province, linked with population maternal and child health records up until March 2020, we estimated the crude and adjusted association among T1DM, T2DM, and GDM and epilepsy in children aged younger than 18 years using Cox proportional hazards models. We examined the robustness of results using quantitative bias analyses. Among 2 105 553 children, 160 644 (7.6%) were exposed to maternal diabetes (0.3% T1DM, 1.2% T2DM, and 6.1% GDM). Over a median follow-up of 10.2 years, 17 853 epilepsy cases were diagnosed. After adjusting for maternal socioeconomic and clinical characteristics, children exposed to maternal diabetes had an increased risk of epilepsy in all subcategories of diabetes compared with those unexposed (adjusted HR [aHR] for T2DM, 1.40; 95% CI, 1.24-1.58; aHR for T1DM, 1.32; 95% CI, 1.03-1.69; and aHR for GDM, 1.14; 95% CI, 1.07-1.22). A longer duration of T1DM or T2DM was associated with an increased risk. These results were consistent in our quantitative bias analyses. Maternal diabetes, particularly T1DM and T2DM, is associated with an increased epilepsy risk in offspring, with longer disease duration not significantly amplifying this risk. These findings suggest that prenatal metabolic and inflammatory exposures may contribute to the development of epilepsy.
Mimics and Diagnostic Pitfalls of Anti-Adenylate Kinase 5 Limbic Encephalitis.
The clinical understanding of limbic encephalitis associated with antibodies against adenylate kinase 5 (AK5) remains limited. Misinterpretation of antibody test results may lead to diagnostic errors and inappropriate management. We aim to assess the frequency of anti-AK5 encephalitis overdiagnosis and identify common diagnostic pitfalls. Cases of confirmed and mimicking anti-AK5 limbic encephalitis from January 2021 to July 2024 using established criteria for autoimmune encephalitis (AE) were reviewed. AK5 mimics were defined as patients initially suspected of AE with a positive AK5 autoantibody result, but who ultimately received an alternative final diagnosis. A total of 21 patients were included (57.1% female; median age 34 years; range 14-82). Only 3 patients (14%) were diagnosed with definite anti-AK5 limbic encephalitis, while 18 patients (86%) were classified as AK5 mimics. Serum autoantibodies were predominantly of the IgG3 subclass, with titers ranging from 1:10 to 1:100. The mimics included primary psychiatric disorders (22%), central nervous system (CNS) infections (22%), other inflammatory disorders (28%), epilepsy (16%), neurodegenerative diseases (6%) and metabolic encephalopathy (6%). The most frequent confounding factor in misdiagnosis was the presence of prominent psychiatric and behavioral symptoms, seen in 50% (9 of 18) of AK5 mimics. The second most common confounder was the presence of low serum antibody titers or isolated serum positivity without corresponding cerebrospinal fluid (CSF) findings (< 1:100), observed in 94% (17 of 18) of mimics. Mimics of anti-AK5 encephalitis are common and that misdiagnosis is often driven by non-specific symptoms and clinically irrelevant antibody results.
Incident and prevalent peripartum mental illness in mothers with multiple sclerosis and other chronic diseases in Sweden.
Findings conflict regarding the risk of peripartum mental illness in women with multiple sclerosis (MS) and how this compares to the risk among women with other chronic diseases. We compared the incidence and prevalence of peripartum mental illness among women with MS, epilepsy, inflammatory bowel disease (IBD), diabetes, and women without any of these diseases (comparators). Using population-based Swedish administrative health data we selected women with MS, epilepsy, IBD, diabetes, and comparators who had deliveries between 2002 and 2019. Using validated case definitions for peripartum mental illness we estimated the incidence and prevalence of mental illness during the period encompassing pregnancy and the first post-partum year. We compared incidence and prevalence between cohorts using crude estimates and unadjusted Poisson regression. We included 1096,814 women (1936 MS; 7709 epilepsy; 7731 IBD; 7182 diabetes; 1072,256 comparators). Mean (SD) age at conception was 30.1 (5.1) years. Compared to comparators, mothers with MS had a higher incidence of any mental illness (incidence rate ratio [IRR] 1.36; 1.04-1.78), as did mothers with epilepsy (1.78; 1.58-2.00), IBD (1.46; 1.28-1.66) and diabetes (1.61; 1.41-1.83). Mothers with MS, epilepsy, IBD and diabetes also had a higher incidence and prevalence of depression and bipolar disorder than comparators. Mothers with epilepsy had higher incidence rates of anxiety, and higher prevalence ratios of any mental illness and anxiety than mothers with MS. Women with MS, epilepsy, IBD and diabetes have a similarly elevated incidence and prevalence of peripartum mental illness as compared to mothers without these conditions.
Glucose measurement in cerebrospinal fluid compared to peripheral blood in dogs with central nervous system disease.
Glucose in cerebrospinal fluid (CSF) is an easily measurable parameter that may correlate with inflammatory central nervous system (CNS) disease. The aim of this study was to evaluate CSF glucose concentration and CSF: peripheral blood glucose ratio (CBGR) in healthy dogs of various ages and dogs with inflammatory versus non-inflammatory CNS disease. This was a single institution retrospective study. Dogs who had peripheral blood collection within 24 h of CSF tap were included. The CSF glucose measurement and CBGR were calculated for healthy dogs and for dogs with various categories of CNS disease. Forty-one healthy dogs and 359 dogs with CNS disease were included. Mean (95% CI) CSF glucose in healthy dogs was 78.4 mg/dL (72.0-84.7) and mean CBGR was 0.80 (0.74-0.86). Among healthy dogs, there was a significant positive correlation between age and CBGR (ρ = 0.41) (p = 0.007). Non-Inflammatory Structural CNS disease had a significantly higher CSF glucose concentration than healthy dogs [87.8 mg/dL (84.2-91.4), p = 0.03]. There was no significant difference in mean CBGR compared to healthy dogs for Non-Inflammatory Structural CNS disease [0.81 (0.78-0.84), p = 0.98] or Idiopathic Epilepsy [0.75 (0.71-0.79), p = 0.28]. Mean CBGR for dogs with Inflammatory CNS disease [0.70 (0.65-0.74)] was significantly lower than that of healthy dogs (p = 0.02). When dogs were divided into more specific disease categories, there was no significant difference in CBGR compared to healthy dogs for Autoimmune [0.70 (0.66-0.75), p = 0.06], Infectious [0.67 (0.56-0.77), p = 0.15], or any other category. Healthy dogs have a CBGR of approximately 0.80, but older age may affect this value. Altered CBGR may help distinguish inflammatory from non-inflammatory structural CNS disease.
Cytokine, Chemokine, and Neurofilament Light Chain Signatures in LGI1 Autoimmune Encephalitis.
To investigate the value of cytokine, chemokine, and neurofilament light chain (NfL) concentrations in predicting relapse risk, chronic epilepsy, and functional impairment in LGI1 autoimmune encephalitis (AE). Cytokines/chemokines (IL-1-beta, IL-2, IL-4, IL-5, IL-6, IL-8/CXCL8, IL-10, IL-12p70, IL-13, IL-17A, GM-CSF, TNF-alpha, IFN-gamma, CXCL9, CXCL10, CXCL13, BAFF) and NfL concentrations were measured in CSF and paired serum from LGI1-AE patients evaluated at Mayo Clinic (01/2015-02/2024), using a multiplex immunoassay system (ELLA, Bio-Techne) and correlated with clinical outcomes. A laboratory-based cohort of LGI1-IgG-positive patients and control cohorts, including patients with mixed non-inflammatory disorders (MNID), Alzheimer's disease (AD), and temporal lobe epilepsy (TLE) were analyzed. Forty-four patients with LGI1-AE were included; 29 (66%) were male, with a median age of 68.5 years (range, 8-85). Median time from symptom onset to CSF sampling was eight months (IQR, 3-17); 19/42 (45%) experienced a clinical relapse and 27% developed chronic epilepsy. Serum IL-6, serum and CSF IL-8/CXCL8, and IL-17A were higher in LGI1-IgG positive patients than MNID (p < 0.05). TLE cytokine/chemokine profiles were similar to LGI1 AE; AD patients had lower serum IL-6 and CSF IL-8/CXCL8 (p = 0.04; p = 0.01), and higher serum IL-17A and GM-CSF (p = 0.004; p = 0.01) than LGI1-AE. Higher CSF IL-6 and IL-8/CXCL8 in LGI1-AE associated with clinical relapse (p < 0.05) and higher CSF NfL associated with chronic epilepsy (p = 0.01). Elevations in IL-6, IL-8/CXCL8, and IL-17A were identified in this LGI1-AE cohort. CSF IL-6, IL-8/CXCL8, and NfL levels are potential prognostic biomarkers for risk of relapse and chronic epilepsy in LGI1-AE.
Publicações recentes
Incident and prevalent peripartum mental illness in mothers with multiple sclerosis and other chronic diseases in Sweden.
Maternal Diabetes and Risk of Epilepsy in Offspring.
EEG variability in inflammatory encephalopathy: Dissemination in time and space.
Acute symptomatic seizures and epilepsy in pediatric patients with central nervous system inflammatory demyelinating diseases.
Immune-mediated inflammatory conditions in epilepsy: role of autoimmunity.
📚 EuropePMCmostrando 200
Incident and prevalent peripartum mental illness in mothers with multiple sclerosis and other chronic diseases in Sweden.
Multiple sclerosis and related disordersMaternal Diabetes and Risk of Epilepsy in Offspring.
PediatricsB-cell-driven relapse and anti-CD20 rescue therapy after Alemtuzumab in RRMS: case report and literature review.
Frontiers in immunologyMimics and Diagnostic Pitfalls of Anti-Adenylate Kinase 5 Limbic Encephalitis.
CNS neuroscience & therapeuticsGlucose measurement in cerebrospinal fluid compared to peripheral blood in dogs with central nervous system disease.
Frontiers in veterinary scienceStatus Epilepsy Syndromes Made Easy: Pediatric Perspectives.
Children (Basel, Switzerland)A Narrative Review of Emerging Immune Targets in Neuroinflammation-Driven Epileptogenesis: From Complement Pathways to Immune Checkpoints.
CureusHuman primary skeletal muscle cells express glutamate receptor GluR3, are activated by glutamate, and are affected by autoimmune GluR3B antibodies of epilepsy patients.
Frontiers in physiologyAutoimmune thyroid disease and human health: a systematic review of Mendelian randomization studies.
Frontiers in immunologyImaging brain inflammation and blood brain barrier permeability in neurological and psychiatric diseases: a review.
Journal of neuroinflammationEEG variability in inflammatory encephalopathy: Dissemination in time and space.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyAssociation of systemic inflammatory factors with clinical outcomes in patients with autoimmune encephalitis at different clinical stages.
Frontiers in immunologyAcute symptomatic seizures and epilepsy in pediatric patients with central nervous system inflammatory demyelinating diseases.
Multiple sclerosis and related disordersImmune-mediated inflammatory conditions in epilepsy: role of autoimmunity.
Epilepsy & behavior : E&BPeripheral blood mononuclear cell secretome from patients with autoimmune encephalitis promotes seizures in vitro.
EpilepsiaEpilepsy and systemic autoimmune diseases: A bidirectional two-sample Mendelian randomization study.
Epilepsia openFurther expanding the clinical spectrum of giant cell arteritis: Non-classical organ involvement and uncommon complications.
Seminars in arthritis and rheumatismCytokine, Chemokine, and Neurofilament Light Chain Signatures in LGI1 Autoimmune Encephalitis.
Annals of clinical and translational neurologyNeurological manifestations in children with SARS-CoV-2 infection: a French multicentric cohort.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyThe role of general practitioners in transitioning adolescents with chronic conditions to adult health care.
European journal of pediatricsCardiofaciocutaneous syndrome and immunodeficiency: data from an international multicenter cohort.
Frontiers in immunologyDouble-edged sword effect of Sutterella in neurological disorders: implications for the gut-brain axis and neuroimmune interactions.
Neurobiology of diseaseRelationship between cerebrospinal fluid cytokines/chemokines and clinical impact of myelin oligodendrocyte glycoprotein antibody-associated disorders in children.
Brain & developmentBiomarkers for diagnosis and prognosis of myelin oligodendrocyte glycoprotein antibody-associated disease - review article.
Frontiers in immunologyLimbic Encephalitis: An Unusual Presentation on 18F-Fluorodeoxyglucose Positron Emission Tomography/Computed Tomography (18F-FDG PET/CT).
CureusNon-coding RNAs in celiac disease.
Clinica chimica acta; international journal of clinical chemistryFDA-approved phensuximide inhibits RIPK1-dependent immunogenic cell death.
Cell death & diseaseApproach and overview of autoimmune encephalitis: A review.
Medicine[Update of clinical management in autoimmune encephalitis-2024].
Rinsho shinkeigaku = Clinical neurologyNeurological outcomes and disability predictors in paediatric herpes simplex virus encephalitis: a multicentre cohort from French tertiary hospitals.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyLymphocyte signatures correspond to clinical phenotypes in autoimmune limbic encephalitis.
Brain communicationsHigh-grade gliomas with autoimmune encephalitis-like presentation: case report and systematic review of the literature.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyMultiple sclerosis and epilepsy.
Revue neurologiqueCSF Tau Is a Biomarker of Hippocampal Injury in Cryptogenic New-Onset Refractory Status Epilepticus.
Annals of clinical and translational neurologyThe causal relationship between systemic lupus erythematosus and juvenile myoclonic epilepsy: A Mendelian randomization study and mediation analysis.
IbrainGynecological issues in children and adolescents seen at rare-disease referral centers: an observational retrospective cohort study.
Orphanet journal of rare diseasesAssociations between fronto-limbic white matter connections and internalizing symptoms in pediatric demyelinating disease.
Multiple sclerosis and related disordersGAD antibodies in neurological disease: a critical evaluation of the utility and treatment implications of GAD antibodies in clinical practice.
Journal of neurologyThe use of steroids in adult epilepsy: A systematic review.
Epilepsia openImmunogenetic Studies in Patients With GAD-Positive Stiff-Person Syndrome Reveal Novel Lymphocytic Genes and KLK10-Gene Variants.
Neurology(R) neuroimmunology & neuroinflammationMulti-ancestry genome-wide meta-analysis with 472,819 individuals identifies 32 novel risk loci for psoriasis.
Journal of translational medicineUnraveling the dual role of bilirubin in neurological Diseases: A Comprehensive exploration of its neuroprotective and neurotoxic effects.
Brain researchHERV-W Env Induces Neuron Pyroptosis via the NLRP3-CASP1-GSDMD Pathway in Recent-Onset Schizophrenia.
International journal of molecular sciencesSuccessful treatment with efgartigimod as an add-on therapy for acute attack of anti-NMDA receptor encephalitis: a case report.
BMC neurologyPeripartum Mental Illness in Mothers With Multiple Sclerosis and Other Chronic Diseases in Ontario, Canada.
NeurologyA nested case-control study evaluating the relationship between adverse childhood experiences and immune-mediated inflammatory disease in the Canadian Longitudinal Study on Aging.
BMJ openThe Human Microglia Atlas (HuMicA) unravels changes in disease-associated microglia subsets across neurodegenerative conditions.
Nature communicationsInvestigating the frequency of neural autoantibodies in refractory focal epilepsy.
SeizureTowards a histological diagnosis of childhood small vessel CNS vasculitis.
Pediatric rheumatology online journalQuantitative Electroencephalography Biomarkers in Patients With Anti-N-methyl-D-aspartate Receptor Encephalitis: A Case-Control Study.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyOptimizing Drug Selection in Children with Multiple Sclerosis: What Do We Know and What Remains Unanswered?
Paediatric drugsAutoimmune GFAP Astrocytopathy-Beyond the Known Horizon, India's First Multifaceted Institutional Experience.
Annals of neurosciencesCoexistence of epilepsy or seizure and multiple sclerosis; review of the literature with a single center experience.
Multiple sclerosis and related disordersChoroid Plexus Volume in Pediatric-Onset Multiple Sclerosis.
Neurology(R) neuroimmunology & neuroinflammationIntrathecal immune reactivity against Measles-, Rubella-, and Varicella Zoster viruses is associated with cerebrospinal fluid inflammation in multiple sclerosis.
Multiple sclerosis (Houndmills, Basingstoke, England)Giant cell arteritis (GCA) as a risk factor for seizures: a cohort study.
Postgraduate medicineThe correlation of GluR3B antibody with T lymphocyte subsets and inflammatory factors and their role in the progression of epilepsy.
Journal of translational medicineThe kappa free light chains index is an accurate diagnostic biomarker for paediatric multiple sclerosis.
Multiple sclerosis (Houndmills, Basingstoke, England)Clinical Characteristics and Prognosis of ICU-Admitted Patients with Guillain-Barre Syndrome: A Report from a Large Teaching Hospital in South Iran.
Iranian journal of medical sciencesDiagnostic and prognostic biomarkers in immune checkpoint inhibitor-related encephalitis: a retrospective cohort study.
The Lancet regional health. EuropeRetigabine, a potassium channel opener, restores thalamocortical neuron functionality in a murine model of autoimmune encephalomyelitis.
Brain, behavior, and immunityClinical characteristics, immunological alteration and distinction of MOG-IgG-associated disorders and GFAP-IgG-associated disorders.
Journal of neuroimmunologyClinical characteristics and outcomes of COVID-19-associated encephalopathy in children.
Journal of neurovirologyMyD88-mediated signaling is critical for the generation of seizure responses and cognitive impairment in a model of anti-N-methyl-D-aspartate receptor encephalitis.
EpilepsiaSeizures in inflammatory demyelinating disorders of the central nervous system.
Multiple sclerosis and related disordersIncreased Prevalence of Headaches and Migraine in Patients with Psoriatic Arthritis and Axial Spondyloarthritis: Insights from an Italian Cohort Study.
BiomedicinesTime to FIRE NORSE: A single acronym for a heterogeneous presentation. Further information from a case series and discussion of the literature.
Journal of neuroimmunologyAutoantibody status, neuroradiological and clinical findings in children with acute cerebellitis.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyRisk of Common Neurological Disorders in Adult Patients with Inflammatory Bowel Disease: A Systematic Review and Meta-analysis.
Inflammatory bowel diseasesVagus nerve stimulation: Potential for treating chronic wounds.
Wound repair and regeneration : official publication of the Wound Healing Society [and] the European Tissue Repair SocietyInflammasomes in neurological disorders - mechanisms and therapeutic potential.
Nature reviews. NeurologyNeurological involvement in patients with primary immunodeficiency.
Allergologia et immunopathologiaThe Role of PKM2 in Multiple Signaling Pathways Related to Neurological Diseases.
Molecular neurobiologyNeuroinflammation and status epilepticus: a narrative review unraveling a complex interplay.
Frontiers in pediatricsAdvances in the study of IL-17 in neurological diseases and mental disorders.
Frontiers in neurologyAntiglomerular basement membrane antibody type rapidly progressive glomerulonephritis with seizures: Two cases and literature review.
Immunity, inflammation and diseaseNarcolepsy type 1 and Sydenham chorea - Report of 3 cases and review of the literature.
Sleep medicineAcute Necrotizing Myelitis Associated with COVID-19.
Yonsei medical journalInterleukin 6: at the interface of human health and disease.
Frontiers in immunologyInvolvement of NRON and TUG1 long noncoding RNAs in inflammation and the pathogenesis of EAE.
Nucleosides, nucleotides & nucleic acidsLong-term outcome of status epilepticus-related to systemic lupus erythematosus: An observational study and a systematic review.
Seminars in arthritis and rheumatismUltrahigh-field MRI: where it really makes a difference.
Radiologie (Heidelberg, Germany)Exploring the impact of miR-128 in inflammatory diseases: A comprehensive study on autoimmune diseases.
Pathology, research and practiceThe future of diagnosis in clinical neurosciences: Comparing multiple sclerosis and schizophrenia.
European psychiatry : the journal of the Association of European PsychiatristsAbundant infiltration of B cells and plasma cells in brain biopsy of a male patient with severe anti-NMDA receptor encephalitis: A case report.
Medicine[Cryptogenic new-onset super-refractory status epilepticus following SARS-CoV-2 vaccination. A case report].
Revista de neurologiaSARS-CoV-2 antibodies in inflammatory neurological conditions: a multicentre retrospective comparative study.
Immunologic researchChronic effects of inflammation on tauopathies.
The Lancet. NeurologyElevated IL-6 plasma levels are associated with GAD antibodies-associated autoimmune epilepsy.
Frontiers in cellular neuroscienceWhat neuropathology teaches us about autoimmune encephalitides, autoimmune epilepsies, and encephalomyelitides.
Clinical neuropathologyInvestigating anti-inflammatory and immunomodulatory properties of brivaracetam and lacosamide in experimental autoimmune encephalomyelitis (EAE).
Epilepsy researchSudden Death Associated With Possible Flare-Ups of Multiple Sclerosis After COVID-19 Vaccination and Infection: A Case Report and Literature Review.
Journal of Korean medical scienceThymoma-associated autoimmune encephalitis: Analysis of factors determining prognosis.
CNS neuroscience & therapeuticsNeuroimmunology of status epilepticus.
Epilepsy & behavior : E&BRegionally restricted modulation of Sam68 expression and Arhgef9 alternative splicing in the hippocampus of a murine model of multiple sclerosis.
Frontiers in molecular neuroscienceAssessment of oligoclonal bands in cerebrospinal fluid and serum of dogs with meningoencephalitis of unknown origin.
PloS oneCurcumin-Based Nanomedicines in the Treatment of Inflammatory and Immunomodulated Diseases: An Evidence-Based Comprehensive Review.
PharmaceuticsCerebrospinal fluid proteomics indicates immune dysregulation and neuronal dysfunction in antibody associated autoimmune encephalitis.
Journal of autoimmunityIs Atopic Dermatitis Only a Skin Disease?
International journal of molecular sciencesCirculating plasmablasts and follicular helper T-cell subsets are associated with antibody-positive autoimmune epilepsy.
Frontiers in immunologyProteomic profiling of cerebrospinal fluid in pediatric myelin oligodendrocyte glycoprotein antibody-associated disease.
World journal of pediatrics : WJPThe Role of Ketogenic Diet in the Treatment of Neurological Diseases.
NutrientsA case of repeated focal motor seizures as expression of an inflammatory cerebral process with suspected dysimmune etiology.
Epilepsy & behavior reportsNeurological Complications Following COVID-19 Vaccination.
Current neurology and neuroscience reportsCytokines/chemokines and immune checkpoint molecules in anti-leucine-rich glioma-inactivated 1 encephalitis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyCell-free DNA-based liquid biopsies in neurology.
Brain : a journal of neurologyWireless optoelectronic devices for vagus nerve stimulation in mice.
Journal of neural engineeringThe therapeutic potential of triptolide and celastrol in neurological diseases.
Frontiers in pharmacologySeizures in anti-Hu-associated extra-limbic encephalitis: Characterization of a unique disease manifestation.
EpilepsiaGenomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.
Brain : a journal of neurologyGuillain-Barré syndrome in association with COVID-19 vaccination: a systematic review.
Immunologic researchThe potential for treg-enhancing therapies in nervous system pathologies.
Clinical and experimental immunologyConnections Between Febrile Infection-Related Epilepsy Syndrome and Autoimmune Encephalitis. A Case Report of a Child With New Anti-neuronal Antibodies.
Frontiers in pediatricsNeuropathology of the temporal lobe.
Handbook of clinical neurologyOverlapping syndrome of recurrent anti-N-methyl-D-aspartate receptor encephalitis and anti-myelin oligodendrocyte glycoprotein demyelinating diseases: A case report.
World journal of clinical casesEvaluation of the blood neutrophil-to-lymphocyte ratio as a biomarker for meningoencephalitis of unknown etiology in dogs.
Journal of veterinary internal medicineEmerging Roles of T Helper Cells in Non-Infectious Neuroinflammation: Savior or Sinner.
Frontiers in immunologyFavorable response to classic ketogenic diet in a child with anti-GAD 65 antibody mediated super refractory status epilepticus.
Epilepsy & behavior reportsAnti-inflammatory and immune-mediated therapy for a case of febrile infection-related epilepsy syndrome with rapid recurrence.
Clinical case reportsRole of Ketogenic Diets in Multiple Sclerosis and Related Animal Models: An Updated Review.
Advances in nutrition (Bethesda, Md.)Cerebrospinal fluid cystatin C levels in patients with anti-NMDAR encephalitis and other neurological diseases.
Journal of neuroimmunologySeizures and epilepsy in multiple sclerosis, aquaporin 4 antibody-positive neuromyelitis optica spectrum disorder, and myelin oligodendrocyte glycoprotein antibody-associated disease.
EpilepsiaRole of the pathologist in the diagnosis of autoimmune encephalitis.
Indian journal of pathology & microbiologyAnalysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.
World journal of pediatrics : WJPCD40-CD40L in Neurological Disease.
International journal of molecular sciencesAll's well that ends well? Long-term course of a patient with anti-amphiphysin associated limbic encephalitis.
Epilepsy & behavior reports"Obvious" indications for Neural antibody testing in Epilepsy or Seizures: The ONES checklist.
EpilepsiaRisk Factors and Nomogram for Predicting Relapse Risk in Pediatric Neuromyelitis Optica Spectrum Disorders.
Frontiers in immunologyTargeting the neurological comorbidities of multiple sclerosis: the beneficial effects of VIP and PACAP neuropeptides.
Journal of integrative neuroscienceKynurenine Metabolism and Alzheimer's Disease: The Potential Targets and Approaches.
Neurochemical researchRoles of the miR-155 in Neuroinflammation and Neurological Disorders: A Potent Biological and Therapeutic Target.
Cellular and molecular neurobiologyRetrospective evaluation of systemic hypertension in dogs with nonassociative (primary) immune-mediated hemolytic anemia (December 2016 to April 2019): 26 cases.
Journal of veterinary emergency and critical care (San Antonio, Tex. : 2001)Th17 cell-mediated immune response in a subpopulation of dogs with idiopathic epilepsy.
PloS onePharmacological Investigations in Glia Culture Model of Inflammation.
Frontiers in cellular neuroscienceManagement of corticosteroid-dependent eosinophilic interstitial nephritis: A case report.
MedicineCharacterization of the Clinical Evidence Supporting Repository Corticotropin Injection for FDA-Approved Indications: A Scoping Review.
JAMA internal medicine[Clinical characteristics of 25 patients with type Ⅰ interferonopathies].
Zhonghua er ke za zhi = Chinese journal of pediatricsParry-Romberg syndrome: is it a "relapsing-remitting" disease?
Ideggyogyaszati szemleRasmussen encephalitis: Predisposing factors and their potential role in unilaterality.
EpilepsiaFocal status epilepticus may trigger relapse of primary angiitis of the CNS.
Epileptic disorders : international epilepsy journal with videotape[NEUROLOGICAL COMPLICATIONS OF COVID-19: REVIEW OF LITERATURE AND OWN EXPERIENCE].
Problemy sotsial'noi gigieny, zdravookhraneniia i istorii meditsinyUpdate on Intravenous Immunoglobulin in Neurology: Modulating Neuro-autoimmunity, Evolving Factors on Efficacy and Dosing and Challenges on Stopping Chronic IVIg Therapy.
Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeuticsChronic inflammatory demyelinating polyneuropathy evolving to primary CNS lymphoma.
BMJ case reportsSeizures in autoimmune encephalitis: specific features based on a systematic comparative study.
Epileptic disorders : international epilepsy journal with videotapeAssociation between Serum Prolactin Levels and Neurodegenerative Diseases: Systematic Review and Meta-Analysis.
NeuroimmunomodulationDeletion of calcineurin from astrocytes reproduces proteome signature of Alzheimer's disease and epilepsy and predisposes to seizures.
Cell calciumGenome-wide Association Study Identifies 2 New Loci Associated With Anti-NMDAR Encephalitis.
Neurology(R) neuroimmunology & neuroinflammationComorbidity and persistence of disease-modifying therapy use in relapsing remitting multiple sclerosis.
Multiple sclerosis and related disordersVaccination in acute immune-mediated/inflammatory disorders of the central nervous system.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietySample selection and gold standard testing for a proper group comparison.
European journal of neurologyHigh prevalence of comorbidities at diagnosis in immigrants with multiple sclerosis.
Multiple sclerosis (Houndmills, Basingstoke, England)Diagnostic challenges in patients with temporal lobe seizures and features of autoimmune limbic encephalitis.
European journal of neurologyPosterior reversible encephalopathy syndrome following Miller-Fisher syndrome.
BMJ case reportsInflammatory Diseases of the Central Nervous System.
Neurologic clinicsVessel Wall Enhancement in Unilateral Primary Angiitis of the Central Nervous System.
The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiquesSuper-refractory status epilepticus in autoimmune encephalitis treated with interleukin-1 receptor antagonist, anakinra.
Epileptic disorders : international epilepsy journal with videotapePediatric Autoimmune Encephalitis and Its Relationship With Infection.
Pediatric neurologySerum inflammatory markers in patients with multiple sclerosis and their association with clinical manifestations and MRI findings.
Acta neurologica BelgicaNeurological Causes of Chest Pain.
Current pain and headache reportsThe role of prolactin in central nervous system inflammation.
Reviews in the neurosciencesRecurrent seizures of autoimmune origin: emerging phenotypes.
Journal of neurologyVagus nerve stimulation in musculoskeletal diseases.
Joint bone spineCerebellar ataxia as a primary manifestation of neuropsychiatric systemic lupus erythematosus.
BMJ case reportsClinical features of paediatric and adult autoimmune encephalitis: A multicenter sample.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyChanges in motor nerve excitability in acute phase Guillain-Barré syndrome.
Muscle & nerveDeceptology in cancer and vaccine sciences: Seeds of immune destruction-mini electric shocks in mitochondria: Neuroplasticity-electrobiology of response profiles and increased induced diseases in four generations - A hypothesis.
Clinical and translational medicineComorbidity in multiple sclerosis patients from Nordland County, Norway - validated data from the Norwegian Patient Registry.
Multiple sclerosis and related disordersIdentification and Validation of Carbonic Anhydrase II as the First Target of the Anti-Inflammatory Drug Actarit.
BiomoleculesThe Clinical Features and Prognosis of Anti-NMDAR Encephalitis Depends on Blood Brain Barrier Integrity.
Multiple sclerosis and related disordersAdult-onset temporal lobe epilepsy suspicious for autoimmune pathogenesis: Autoantibody prevalence and clinical correlates.
PloS oneAtypical Presentation of Fulminating Subacute Sclerosing Panencephalitis: A Case Series.
NeuropediatricsPrevalence of comorbidities in Multiple Sclerosis and impact on physical disability according to disease phenotypes.
Multiple sclerosis and related disordersNeuropsychiatric manifestations in adult-onset Still's disease.
BMJ case reportsThe deficiency of myelin in the mutant taiep rat induces a differential immune response related to protection from the human parasite Trichinella spiralis.
PloS oneDistinguishing and Biochemical Phenotype Analysis of Epilepsy Patients Using a Novel Serum Profiling Platform.
Brain sciencesManagement of Non-criteria Manifestations in Antiphospholipid Syndrome.
Current rheumatology reportsFingolimod as a Treatment in Neurologic Disorders Beyond Multiple Sclerosis.
Drugs in R&DSearching for autoimmune encephalitis: Beware of normal CSF.
Journal of neuroimmunologyThe PET Sandwich: Using Serial FDG-PET Scans with Interval Burst Suppression to Assess Ictal Components of Disease.
Neurocritical careRefractory Bullous Pemphigoid Improved by Discontinuation of Phenytoin as an CYP3A4 Inducer.
Acta dermato-venereologicaAutoimmune encephalitis as a differential diagnosis of schizophreniform psychosis: clinical symptomatology, pathophysiology, diagnostic approach, and therapeutic considerations.
European archives of psychiatry and clinical neuroscienceSerum α-synuclein and IL-1β are increased and correlated with measures of disease severity in children with epilepsy: potential prognostic biomarkers?
BMC neurologyNovel Surrogate Markers of CNS Inflammation in CSF in the Diagnosis of Autoimmune Encephalitis.
Frontiers in neurologyImmune-mediated epilepsy with GAD65 antibodies.
Journal of neuroimmunologyAutoimmune encephalitis management: MS centers and beyond.
Multiple sclerosis (Houndmills, Basingstoke, England)Role of Nuclear Factor Kappa B (NF-κB) Signalling in Neurodegenerative Diseases: An Mechanistic Approach.
Current neuropharmacologyPersonalized Nutrition: Are We There Yet?
Journal of pediatric gastroenterology and nutritionComorbidities As Risk Factors for Rheumatoid Arthritis and Their Accrual After Diagnosis.
Mayo Clinic proceedingsMeasurement of Neutrophil Gelatinase-Associated Lipocalin Concentration in Canine Cerebrospinal Fluid and Serum and Its Involvement in Neuroinflammation.
Frontiers in veterinary scienceInnate Immunity in the Central Nervous System: A Missing Piece of the Autoimmune Encephalitis Puzzle?
Frontiers in immunologyEpilepsy in multiple sclerosis as a network disease.
Multiple sclerosis and related disordersPresence of cerebrospinal fluid antibodies associated with autoimmune encephalitis of humans in dogs with neurologic disease.
Journal of veterinary internal medicineEfficacy and Tolerability of Intravenous Immunoglobulin and Subcutaneous Immunoglobulin in Neurologic Diseases.
Clinical therapeuticsDo people with multiple sclerosis benefit from PC-based neurorehabilitation? A pilot study.
Applied neuropsychology. AdultThe neuro-glial coagulonome: the thrombin receptor and coagulation pathways as major players in neurological diseases.
Neural regeneration researchWhole-body reversible neuropathic pain associated with right parieto-temporal operculum single inflammatory lesion in a patient with multiple sclerosis: A case report.
European journal of pain (London, England)Acute Disseminated Encephalomyelitis (ADEM) and Increased Intracranial Pressure Associated With Anti-Myelin Oligodendrocyte Glycoprotein Antibodies.
Pediatric neurologyApplication and prospects of butylphthalide for the treatment of neurologic diseases.
Chinese medical journalTherapeutic effect of Anakinra in the relapsing chronic phase of febrile infection-related epilepsy syndrome.
Epilepsia openMinimal inflammatory foci of unknown etiology may be a tentative sign of early stage inherited cardiomyopathy.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Doença autoimune e inflamatória com epilepsia.
É de uma associação que acompanha esta doença? Fale com a gente →
Doenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Ainda não achamos doenças com sintomas parecidos o suficiente.
Perguntas frequentes
O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu
Trata-se de uma categoria médica de desordens neurológicas caracterizada por processos autoimunes ou inflamatórios associados a crises epilépticas. Está registrada sob o código ORPHA:166484 no catálogo Orphanet.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
3 fontes citadas no texto · 8 publicações do grafo RarasNet (PubMed) · 4 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.
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.
Citar este verbete
Raras. (2026). Doença autoimune e inflamatória com epilepsia. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/doenca-autoimune-e-inflamatoria-com-epilepsia
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Doença autoimune e inflamatória com epilepsia
📋 Origem dos dados
Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.
- Doença rara (ontologia)
- fonte: Orphanet
- Identificador unificado
- fonte: MONDO
- Dado público estruturado
- fonte: Wikidata
- Medicamentos aprovados FDA
- fonte: FDA OpenFDA
- Reposicionamento
- fonte: Drug Repurposing Hub
