Epilepsia familiar de origem genética, com manifestações clínicas variáveis e padrão de herança autossômica. Identificação de mutações em genes específicos associados a canais iônicos ou sinapses.
Introdução
O que você precisa saber de cara
Visão geral
A Síndrome epiléptico familiar, idiopático ou criptogênico, com locus/gene identificado é uma condição neurológica caracterizada pela ocorrência de crises epilépticas (convulsões) em membros de uma mesma família, sem uma causa estrutural ou adquirida identificável (idiopática ou criptogênica), e para a qual já foi identificado um gene ou região cromossômica (locus) associado à doença. Isso significa que, embora a epilepsia seja de origem genética, exames de imagem do cérebro geralmente não mostram alterações estruturais que expliquem as crises.[1]
Sinais e sintomas
Os sinais e sintomas variam amplamente entre as diferentes famílias e dependem do gene específico envolvido. De forma geral, a condição se manifesta por crises epilépticas recorrentes, que podem ser de diferentes tipos (como crises focais, generalizadas ou ausências). A idade de início, a frequência e a gravidade das crises também são variáveis. Como se trata de uma síndrome com locus/gene identificado, o padrão de herança e a expressão dos sintomas podem seguir um padrão familiar.[1]
Causas genéticas
Esta síndrome é causada por alterações (mutações) em um gene específico, que ainda não foi detalhado na base de dados consultada, ou por alterações em uma região cromossômica (locus) identificada. A herança pode ser autossômica dominante, autossômica recessiva ou ligada ao X, dependendo do gene envolvido. A identificação do gene ou locus é fundamental para confirmar o diagnóstico e para o aconselhamento genético da família.[1][2]
Diagnóstico
O diagnóstico é baseado na avaliação clínica das crises epilépticas, no histórico familiar de epilepsia e na exclusão de outras causas (como lesões cerebrais, infecções ou tumores). A confirmação diagnóstica depende da identificação de uma variante patogênica em um gene associado à síndrome, por meio de teste genético. Exames como eletroencefalograma (EEG) e neuroimagem (ressonância magnética) são usados para caracterizar o tipo de crise e descartar causas estruturais.[1][2]
Tratamento e manejo
O tratamento é individualizado e visa o controle das crises epilépticas com medicamentos anticonvulsivantes (antiepilépticos). A escolha do medicamento depende do tipo de crise, da idade do paciente, de comorbidades e da tolerabilidade. O acompanhamento deve ser feito por um neurologista especializado em epilepsia. O suporte multidisciplinar, incluindo aconselhamento genético para a família, é parte importante do manejo. No Brasil, a cobertura para esta condição pelo SUS é considerada mínima.[1]
Tratamentos citados na literatura
A literatura científica (fonte: PubTator3) menciona associações entre esta síndrome e diversos fármacos, mas é importante destacar que estas são correlações mineradas automaticamente de artigos científicos e não representam recomendações de tratamento. Os fármacos listados são: aminohydroxybutyric-acid, diclofenamide, ethosuximide, felbamate, fosphenytoin, lamotrigine, metharbital, phenacemide, pyridoxal, stiripentol, topiramate, valproic-acid, valpromide e zonisamide. O número de publicações que associam cada fármaco à síndrome não foi especificado na base de dados consultada.[1]
Prognóstico e qualidade de vida
O prognóstico é variável e depende do gene envolvido, da gravidade das crises e da resposta ao tratamento. Muitas pessoas com esta síndrome conseguem controle satisfatório das crises com medicação adequada, levando uma vida com qualidade. No entanto, algumas formas podem ser mais resistentes ao tratamento. O acompanhamento médico regular e o suporte familiar são essenciais para otimizar o prognóstico e a qualidade de vida.[1]
Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.
Esta categoria engloba formas de epilepsia que se manifestam em mais de uma pessoa da mesma família e que possuem fatores genéticos identificados. O sinal característico é a ocorrência recorrente de crises epilépticas entre os membros consanguíneos. No Brasil, existe um protocolo clínico geral de epilepsia no SUS, embora a doença não conste individualmente na lista de PCDT de doenças raras. Medicamentos como a lamotrigina possuem registro sanitário concedido pela ANVISA para comercialização no país.
Epilepsia familiar de origem genética, com manifestações clínicas variáveis e padrão de herança autossômica. Identificação de mutações em genes específicos associados a canais iônicos ou sinapses.
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 — Síndrome epiléptico familiar, idiopático ou criptogênico, com locus/gene identificado
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
Clinical predictors of relapse and severe disease phenotype in children with non-systemic juvenile idiopathic arthritis.
Este estudo sobre artrite idiopática juvenil (AIJ) não sistêmica em crianças revelou que aproximadamente metade dos pacientes experimenta recaídas após a remissão, sendo a maior duração da doença, o número de articulações envolvidas no diagnóstico e o acometimento da articulação metacarpofalângica (MCP) fatores de risco independentes para recaída. No entanto, nem toda recaída indica um curso grave; a forma mais severa, caracterizada por múltiplas recaídas que exigem tratamento biológico (afetando 14% dos pacientes), é predita por idade mais jovem ao diagnóstico e envolvimento das articulações do tornozelo e temporomandibular (ATM). Essas informações são cruciais para médicos e pacientes na previsão do curso da doença e no planejamento do tratamento.
🇧🇷 traduzidoGenetically confirmed Dubin-Johnson syndrome presenting as long-standing isolated conjugated hyperbilirubinaemia.
Este artigo destaca a Síndrome de Dubin-Johnson (SDJ) como uma causa de hiperbilirrubinemia conjugada isolada e prolongada, caracterizada por icterícia intermitente com função hepática normal. Para pacientes e médicos, a confirmação do diagnóstico por teste genético, que identifica mutações no gene ABCC2, é crucial. Isso porque a SDJ é uma condição benigna e não progressiva que não requer tratamento específico, permitindo evitar investigações invasivas desnecessárias e tranquilizando o paciente sobre seu prognóstico favorável.
🇧🇷 traduzidoCorrection: Integrated bioinformatics-based identification of proliferative diabetic retinopathy and idiopathic pulmonary fibrosis: Focus on fibrosis and immune infiltration.
O título do artigo fornecido ("Correction: Integrated bioinformatics-based identification of proliferative diabetic retinopathy and idiopathic pulmonary fibrosis: Focus on fibrosis and immune infiltration.") *não se relaciona* com a síndrome de epilepsia familiar idiopática ou criptogênica, mas sim com uma correção sobre retinopatia diabética e fibrose pulmonar. Se o artigo *fosse* sobre a epilepsia familiar idiopática/criptogênica com loci/genes identificados, seus pontos mais importantes para pacientes e médicos seriam a identificação de causas genéticas específicas. Isso permitiria um diagnóstico mais preciso, um melhor aconselhamento genético para as famílias sobre o risco de recorrência e o desenvolvimento potencial de terapias mais direcionadas e personalizadas.
🇧🇷 traduzidoGEN-KnowRD: Reframing AI for Rare Disease Recognition.
Doenças raras frequentemente enfrentam longos atrasos diagnósticos, limitando intervenções e acesso a pesquisas. O GEN-KnowRD, um novo sistema de inteligência artificial, aborda esse problema ao utilizar modelos de linguagem avançados (LLMs) para *construir e atualizar* conhecimento detalhado sobre as doenças, em vez de focar diretamente no diagnóstico. Para médicos e pacientes, isso significa uma identificação significativamente mais rápida e precisa de doenças raras, melhorando as chances de intervenção precoce e otimizando o percurso diagnóstico.
🇧🇷 traduzidoFronto-medial theta instability error signal correlates with postural sway in Parkinson's disease and progressive supranuclear palsy.
Pacientes com Parkinson (DP) e Paralisia Supranuclear Progressiva (PSP) frequentemente apresentam instabilidade postural, levando a quedas. Este estudo revelou que a atividade cerebral fronto-medial theta, que age como um "sinal de erro" para a estabilidade, está ligada ao controle postural em ambos os grupos. No entanto, pacientes com PSP demonstraram uma redução significativa desse "sinal de erro" em comparação com os de DP, o que sugere diferentes habilidades de compensação cerebral para os desafios de equilíbrio, potencialmente auxiliando no diagnóstico e desenvolvimento de intervenções personalizadas.
🇧🇷 traduzidoPublicações recentes
Analysing the correlation between preoperative clinical and radiological shoulder balance parameters among adolescent idiopathic scoliosis (AIS) patients with Lenke type 1 and 2 curves.
Does the combination of pulsed lavage and negative pressure dressings reduce infection rates after posterior spinal arthrodesis in pediatric scoliosis ?
Predictors of shunt responsiveness and outcomes in idiopathic normal pressure hydrocephalus: a retrospective cohort study.
A proposal for the implementation of telemedicine in Japan for rheumatoid arthritis, juvenile idiopathic arthritis, and systemic lupus erythematosus: review article.
📚 EuropePMCmostrando 196
Identification of a Novel MTM1 Mutation Associated with X-Linked Myotubular Myopathy: Clinical and Molecular Insights for Prenatal Diagnosis.
International journal of women's healthPre-treatment serum albumin predicts relapse in idiopathic inflammatory myopathies: a retrospective cohort study with cytokine profiling.
Rheumatology advances in practiceMethotrexate Therapy in Juvenile Idiopathic Arthritis: No Clinically Relevant Pulmonary Impairment but Frequent Transient Liver Enzyme Elevations in a Longitudinal Single-Center Pediatric Cohort of 274 Children Over 30 Years.
ACR open rheumatologyThe gut-joint axis in juvenile idiopathic arthritis.
Arthritis research & therapyPsychometric properties of health-related quality of life assessment instruments in idiopathic pulmonary fibrosis: a systematic review applying COSMIN methodology.
Health and quality of life outcomesClinical predictors of relapse and severe disease phenotype in children with non-systemic juvenile idiopathic arthritis.
European journal of pediatricsImplicating Sperm microRNA hsa-miR-7977 and its Target Genes in Idiopathic Recurrent Pregnancy Loss: Evidence from Expression Analysis.
Reproductive sciences (Thousand Oaks, Calif.)Application of a novel Musculoskeletal Ultrasound Sum Score (MUSS) in the follow-up of patients with juvenile idiopathic arthritis.
Rheumatology (Oxford, England)Soluble SIGLEC1 as a biomarker of disease activity in idiopathic inflammatory myopathies.
Rheumatology (Oxford, England)Genetically confirmed Dubin-Johnson syndrome presenting as long-standing isolated conjugated hyperbilirubinaemia.
BMJ case reportsIsolated antineutrophil cytoplasmic antibody-associated interstitial lung disease: A systematic review of an emerging condition.
Autoimmunity reviewsAnalysing the correlation between preoperative clinical and radiological shoulder balance parameters among adolescent idiopathic scoliosis (AIS) patients with Lenke type 1 and 2 curves.
Journal of orthopaedic surgery (Hong Kong)Does the combination of pulsed lavage and negative pressure dressings reduce infection rates after posterior spinal arthrodesis in pediatric scoliosis ?
Spine deformityPredictors of shunt responsiveness and outcomes in idiopathic normal pressure hydrocephalus: a retrospective cohort study.
Acta neurochirurgicaBaseline Features of Optic Neuritis in South Korea: A Retrospective Multicenter Study.
Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology SocietyCommonalities in rehabilitation data across diverse health conditions: a comparison of seven large European databases.
Journal of rehabilitation medicineThe performance of plasma pTau181 and pTau217 in distinguishing Alzheimer's disease from various neurodegenerative disorders, psychiatric disorders, and cognitively unimpaired controls.
Journal of Alzheimer's disease : JADOptic Disc Drusen in Children: An Updated Clinical and Imaging Perspective.
International ophthalmology clinicsUpdate on Pediatric Idiopathic Intracranial Hypertension.
International ophthalmology clinicsAdverse pregnancy outcomes in adult patients with idiopathic inflammatory myopathy: a systematic review and meta-analysis.
Arthritis care & researchEpigenetic regulatory mechanisms and translational applications in idiopathic pulmonary fibrosis.
American journal of clinical and experimental immunologyUnexpected detection of clear cell sarcoma of soft tissue during single-channel endoscopic carpal tunnel release for recurrent carpal tunnel syndrome: a case report with literature review.
Frontiers in surgeryCase Report: Dual response to efgartigimod in myasthenia gravis and comorbid autoimmune disorders: a case series.
Frontiers in immunologyMycophenolate Mofetil for Induction and as a Steroid-Sparing Agent in the Treatment of Idiopathic Inflammatory Myositis: An Open-Label Study.
CureusAcute Pancreatitis Secondary to Duodenal Diverticulitis: A Case Report.
CureusRehabilitation effects of combined respiratory guidance and chiropractic adjustment on adolescents with idiopathic scoliosis.
American journal of translational researchA Novel Nomogram for Predicting Gonadotropin-Releasing Hormone Analogue Treatment Outcome in Girls with Idiopathic Central Precocious Puberty.
International journal of women's healthIdentification of Glycosylation-Related Biomarkers in COPD and IPF Through Integrated Machine Learning and WGCNA Analysis.
Journal of inflammation researchPatient-reported outcome using EFAS score in skeletally mature clubfoot patients treated at birth with Ponseti's technique.
Journal of children's orthopaedicsGEN-KnowRD: Reframing AI for Rare Disease Recognition.
medRxiv : the preprint server for health sciencesTalar Index: A New Radiologic Marker for Clubfoot Equinus.
Journal of pediatric orthopedicsRecovery trajectories of TAFRO syndrome: a single-center case series highlighting prolonged thrombocytopenia and anasarca.
Immunological medicineTranscriptomic analysis reveals lipid metabolism and macrophage involvement associated with nintedanib treatment in a rat bleomycin model.
British journal of pharmacologyMorel Lavallée Lesion Following Excessive Physiotherapy for Ankle Arthritis in a Child with Juvenile Idiopathic Arthritis: Correspondence.
Indian journal of pediatricsImproved quality of life, reduced quantitative lung fibrosis in a trial of inhaled pirfenidone for idiopathic pulmonary fibrosis.
BMC pulmonary medicineConsensus palliative care referral criteria for people with idiopathic pulmonary fibrosis: An international Delphi study.
Annals of the American Thoracic SocietyLow-Dose vs. Standard-Dose Nintedanib at Initiation in Fibrosing ILD: A Target-Trial Emulation of Treatment Persistence and Lung Function.
Annals of the American Thoracic SocietyIdiopathic Mondor's Disease: A Rare Cause of Chest Pain.
The American journal of medicineClinical characteristics and quality of life measures in children with glaucoma-suspect or glaucoma diagnoses in chronic, noninfectious uveitis.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusDelayed hemothorax in adolescent idiopathic scoliosis 5-year post-spinal fusion.
Spine deformityClinical and hemodynamic evaluation of schistosomiasis-associated pulmonary arterial hypertension from Egyptian pulmonary hypertension centers: epidemiology, risk factors, and survival determinants.
Scientific reportsEtiologies of Wrist Arthritis in the Young Patient.
Hand clinicsAA amyloidosis in inflammatory joint diseases in the era of biological therapies: prevalence, manifestations, management and evolution.
Joint bone spineCo-exposure to polystyrene nanoplastics and 3, 3', 4, 4', 5-pentachlorobiphenyl induces synergistic toxicity in human sperm.
Reproductive toxicology (Elmsford, N.Y.)Differential Responses of J waves to Heart Rate Changes in Idiopathic Ventricular Fibrillation and General Population in Japan.
Heart rhythmFronto-medial theta instability error signal correlates with postural sway in Parkinson's disease and progressive supranuclear palsy.
Journal of the neurological sciencesInterlaboratory variability in laboratory testing and reporting of myositis autoantibodies.
Journal of autoimmunityPrevalence and Risk of Falls and Fractures in the Idiopathic Inflammatory Myopathies: A Cross-Sectional Study of 470 Patients.
Rheumatology and therapyMyelin Oligodendrocyte Glycoprotein Antibody-associated Disease as a Cause for Pediatric Idiopathic Intracranial Hypertension in a Non-obese Boy Without Papilledema: Correspondence-2.
Indian journal of pediatricsB cell depletion with rituximab in children with steroid-sensitive nephrotic syndrome: does depletion duration change outcome?
Pediatric nephrology (Berlin, Germany)The Auditory Manifestations of Autoimmune Rheumatologic Diseases: A Review of Current Evidence.
Current rheumatology reviewsFrom tablets to targeted therapy: the APHRODITE era in male infertility.
Human reproduction (Oxford, England)Effect of Glucagon-Like-Peptide-1 Receptor Agonists (GLP-1 RA) on Neuropsychiatric Outcomes: A Systematic Review and Meta-Analysis.
Clinical therapeuticsLarge Language Models for Interpreting Standardized Neuropsychological Summaries in Idiopathic Normal Pressure Hydrocephalus: A Pilot Comparative Study.
World neurosurgeryDeepSeek-R1 performance in fusion planning of adolescent idiopathic scoliosis: A preliminary study.
Orthopaedics & traumatology, surgery & research : OTSRCardiac MRI differentiates classical idiopathic pulmonary arterial hypertension from lung phenotype and group 3 pulmonary hypertension.
Respiratory medicine and researchScalable and Robust Artificial Intelligence for Spine Alignment Assessment: Multicenter Study Enabled by Real-Time Data Transformation.
Journal of medical Internet researchGrowth hormone (GH) deficiency and subsequent replacement therapy trigger differential expression of specific miRNAs in males and females: not just a matter of height.
Hormone research in paediatricsNuclear export by COPS5/CSN5/JAB1 mediates vascular smooth muscle cell dedifferentiation in neointimal hyperplasia.
Cardiovascular researchImpact of contralateral sensorineural hearing loss on prognosis in idiopathic sudden sensorineural hearing loss.
PloS onePrevalence and characteristics of scoliosis among ethiopian schoolchildren aged 6-15 Years: A school-based cross-sectional study.
PloS oneRecommended Medical Investigations in Pediatric Acute-Onset Neuropsychiatric Syndrome.
JAMA network openIdiopathic Thoracolumbar Scoliosis Treated at Adult Age: Timing of Surgery and Quality of Life.
Spine[Analysis of external respiratory function disturbances in combined pulmonary fibrosis and emphysema].
Terapevticheskii arkhivNaringin nanoparticles alleviate RA-ILD pulmonary fibrosis by targeting 14-3-3ζ to inhibit LYVE1+ macrophages TGF-β1 secretion.
Materials today. BioOverview of allergic disease: Anaphylaxis - WAO White Book on Allergy 2026 - 2.11.
The World Allergy Organization journalPrimary Sjögren's syndrome-associated immune thrombocytopenia: from pathogenesis to treatment.
Frontiers in immunologyMorphological changes and lateralization of the thalamic nuclei in children with growth hormone deficiency.
Frontiers in endocrinologyFeasibility of AI-driven multichannel FES-assisted gait and cycling training in chronic neurological disorders: a case series.
Journal of neuroengineering and rehabilitationInvestigation of adolescent cases diagnosed with idiopathic/genetic generalized epilepsy in terms of self-esteem, aggression, body perception, and alexithymia.
European journal of pediatricsA single test strategy using spot fecal bile acid test may be a feasible strategy for the diagnosis of bile acid malabsorption.
Indian journal of gastroenterology : official journal of the Indian Society of GastroenterologyTask-specific compensatory joint control strategies in adolescent idiopathic scoliosis during dynamic balance tasks.
Scientific reportsRheumatic diseases in childhood: Clinical and immunological characteristics of a pediatric cohort at a tertiary hospital.
Reumatologia clinicaSingle-centre observational study of anti-adalimumab antibody development in children and young people treated for juvenile idiopathic arthritis and/or non-infectious uveitis.
The British journal of ophthalmologyTowards causal validation and clinical translation of the PAK2-fibroblast axis in idiopathic pulmonary fibrosis.
The European respiratory journalEstablishing the minimal clinically important difference for the UCLA functional scale in patients undergoing clinical treatment for adhesive capsulitis.
Journal of shoulder and elbow surgeryMycophenolate mofetil versus prednisone for the initial treatment of idiopathic steroid-sensitive nephrotic syndrome in children in Germany (INTENT): a multicentre, open-label, randomised, controlled, parallel-group, non-inferiority, phase 3 trial.
The Lancet. Child & adolescent healthFrom a caregiver perspective: Quality of life of children with epilepsy and autism spectrum disorder - a single site case-control study.
Brain & developmentIdentifying prioritization of potential targets for idiopathic pulmonary fibrosis: Proteome-wide Mendelian randomization and colocalization analyses.
Clinics (Sao Paulo, Brazil)Gene expression and metadata based identification of key genes for lung cancer, COPD, and IPF using machine learning and statistical models.
PloS oneA Narrative Review of Secukinumab in Spondyloarthritis and Psoriatic Arthritis: Treating the Whole Patient.
Rheumatology and therapyParadoxical Expression of Ionotropic Glutamate Receptors in Leucocytes.
Clinical reviews in allergy & immunologySemi-quantitative analyses of muscle magnetic resonance imaging for pattern recognition in early idiopathic inflammatory myopathies.
Journal of neuromuscular diseasesIntracranial Pressure Dynamics and Cerebrospinal Fluid Outflow Resistance in the Elderly: Associations With 10-Year Changes in Cognitive Function and Ventricular Volume.
NeurosurgeryINPP5D/SHIP1-mediated immunometabolic remodeling of renal monocytes in idiopathic membranous nephropathy.
Frontiers in immunologyPrevalence of Soft Tissue Calcifications on Digital Panoramic Radiographs: A Cross-Sectional Study.
Journal of pharmacy & bioallied sciencesPsychosocial impact of chronic oral mucosal pain disorders: Associations with oral health related quality of life, anxiety, and depression.
Journal of oral biology and craniofacial researchThe Deceptive Nature of Pneumatosis Intestinalis: From Spontaneous Resolution to Bowel Ischemia.
Ochsner journalAssociations between physical fitness and idiopathic scoliosis in Chinese adolescents: A case-control study.
Preventive medicine reportsA comprehensive evaluation of non-vascular prepontine cistern anatomy influencing trigeminal nerve vulnerability using machine learning-based morphometric analysis.
Frontiers in medicineIdiopathic cutaneous immunoglobulin G/immunoglobulin M vasculitis is likely a distinct entity: A European multicentric retrospective study.
JAAD internationalGyrus Rectus Herniation Following Transsphenoidal Pituitary Adenoma Surgery: A Rare Case Report.
Journal of neurological surgery reportsIdiopathic male infertility revisited: can redox endophenotypes reframe the 'idiopathic' label?
Frontiers in endocrinologyStatin use and its implications on survival and disease progression in the European MultiPartner idiopathic pulmonary fibrosis registry (EMPIRE).
Annals of medicineCellular therapies for rheumatic disease.
Current opinion in rheumatologyCephalic Vein Aneurysm of the Wrist Adjacent to the Superficial Radial Nerve: A Case Report.
Vascular specialist internationalIdiopathic nodular glomerulosclerosis and diabetic nephropathy: a histological and prognostic comparison highlighting the impact of smoking.
BMC nephrologyTislelizumab-induced Vogt-Koyanagi-Harada-like uveitis: a case report.
BMC ophthalmologyEngineered Lecithin-Polymer Hybrid Micelles for Enhanced Gallic Acid Delivery: Response Surface Optimization and Preclinical Evaluation.
AAPS PharmSciTechDeep-learning-based de novo discovery and design of therapeutics that reverse disease-associated transcriptional phenotypes.
CellTibialis anterior muscle function in ankle-foot deformities as derived from intraoperative force measurements.
Journal of biomechanicsNeuralgia-inducing cavitational osteonecrosis (NICO): A scoping review of a controversial concept in orofacial pain.
Archives of oral biologyAssociation of choroid plexus volume with MRI indices of DTI-derived parameters and perivascular spaces in patients with neurodegenerative diseases.
European journal of radiologySuper-selective arterial embolization in the therapy of non-ischemic priapism-a single-center study and literature review.
CVIR endovascularMyelin Oligodendrocyte Glycoprotein Antibody-associated Disease as a Cause for Pediatric Idiopathic Intracranial Hypertension in a Non-obese Boy Without Papilledema: Authors' Reply.
Indian journal of pediatricsIncreased serum antibody responses to Aspergillus fumigatus and house dust mite antigens in dogs with idiopathic eosinophilic bronchopneumopathy.
Journal of veterinary internal medicineHematologic adverse events following COVID-19 vaccination and revaccination in persons aged 12 and above: A Canadian Immunization Research Network study.
Human vaccines & immunotherapeuticsEffectiveness of clomiphene citrate on total motile sperm count and hormonal profile in men with clinical infertility.
Canadian Urological Association journal = Journal de l'Association des urologues du CanadaSystematic Review of the Effectiveness of Transphyseal Screws for Correction of Coronal Plane Knee Deformities and Meta-analysis of Comparative Studies With Tension Band Plates.
Journal of pediatric orthopedicsEffect of Abduction Bracing on the ContralateralFoot in Patients With Unilateral Clubfoot Deformity:A Longitudinal Study.
Journal of pediatric orthopedics[Morphologic types of idiopathic epiretinal fibrosis based on immunohistochemistry data].
Vestnik oftalmologiiComparative Prognosis of Chagas and Other Cardiomyopathies.
Journal of the American College of CardiologyDiscovery of Triazine-Based Toll-Like Receptor 9 Antagonists with Oral Activity.
ACS medicinal chemistry lettersDual knockdown of Alox15 and TGF-β1 by lipid nanoparticle-delivered siRNA in bleomycin-induced pulmonary fibrosis.
Biochemistry and biophysics reportsClinical Features and Management of Optic Neuritis in a Cohort of Patients with Combined Central and Peripheral Demyelination.
Neuro-ophthalmology (Aeolus Press)Choroidal Neovascular Membrane Formation in Idiopathic Intracranial Hypertension: A Scoping Review.
Neuro-ophthalmology (Aeolus Press)Spontaneous renal artery dissection with renal artery stenting: A case report.
Urology case reportsPharmacological mechanism of active components in Polygonatum odoratum for idiopathic pulmonary fibrosis: a study integrating bioinformatics and experimental validation.
Frontiers in pharmacologyVps35 p. D620N causes Lrrk2 kinase hyperactivity, chronic microglial activation and inflammation.
bioRxiv : the preprint server for biologyDeep-learning networks accurately detect pulmonary hypertension in patients with idiopathic pulmonary fibrosis.
ERJ open researchThe COCOS-IPF core outcome set for idiopathic pulmonary fibrosis/progressive pulmonary fibrosis care: a mixed-method multi-perspective approach.
ERJ open researchKeratin-5-positive basal-like epithelial cells associate with forced vital capacity in idiopathic pulmonary fibrosis; a cross-sectional analysis.
ERJ open researchDesign of a phase II randomised, double-blind, placebo-controlled, dose-finding trial of BI 1819479 in patients with idiopathic pulmonary fibrosis.
ERJ open researchA phase 1 pharmacokinetics study of deupirfenidone (LYT-100) in healthy older adults.
ERJ open researchRetroperitoneal Fibrosis Presenting With Duodenal Obstruction: A Fatal Case of Corticosteroid-Resistant Disease.
CureusPersonalized Treatment Outcomes in Idiopathic Granulomatous Mastitis: A Retrospective Study of Ninety-Two Patients.
European journal of breast healthPHB2 acts as a braker of progressive pulmonary fibrosis via intervention of DDR2-elicited signaling.
Acta biochimica et biophysica SinicaHydroxychloroquine for recurrent pericarditis: A multicentre observational study.
European journal of internal medicineSerum concentration of Surfactant protein D at diagnosis is associated with malnutrition in patients with idiopathic pulmonary fibrosis.
Respiratory medicine and researchSevere Occupational Hypersensitivity Pneumonitis: A Case Series of Four Patients Requiring Lung Transplantation.
American journal of industrial medicineArtificial Intelligence Enabled Noninvasive Mapping of Cardiac Arrhythmia Origins Using the 12-Lead Electrocardiogram.
Journal of cardiovascular electrophysiologyUveitis of undifferentiated etiology: insights into diagnosis and evolution from a cohort of 338 patients.
BMC ophthalmologyPreoperative pain experience and distribution in relation to mental health in Lenke type 1 and 2 adolescent idiopathic scoliosis: a prospective cross-sectional study.
Spine deformitySurgical outcomes in adult scheuermann's kyphosis: a matched-cohort comparison with adult idiopathic scoliosis as a clinical benchmark.
Spine deformityEffects of very early arthritis on pain, behavior, and hippocampal TNF/BDNF in rats.
Pediatric researchEndoscopic transnasal approach to pterygopalatine fossa and infratemporal fossa: case series utilizing endoscopic modified medial maxillectomy (EMMM)/direct approach to the anterior and lateral part of the maxillary sinus (DALMA).
Acta neurochirurgicaEndothelial C-type natriuretic peptide/guanylyl cyclase-B signaling prevents pulmonary arterial hypertension.
Nature communicationsEfficacy and safety of TPO-RA combined with sirolimus in the treatment of relapsed immune thrombocytopenia.
Hematology (Amsterdam, Netherlands)Sagittal Spinal Alignment 2 Years After Vertebral Body Tethering.
SpineExtent of alveolar collapse in expiratory CT as a prognostic marker in idiopathic pulmonary fibrosis.
PloS oneReliability and validity of adolescent idiopathic scoliosis diagnosis based on mobile phone AI scoliosis screening algorithm and infrared 3D spine assessment system.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyEffects of proprioceptive neuromuscular facilitation and core stabilization on physical and functional parameters in adolescents with idiopathic scoliosis: a randomized controlled trial.
European spine journal : official publication of the European Spine Society, the European Spinal Deformity Society, and the European Section of the Cervical Spine Research SocietyThe prevalence of autoimmune diseases in antibody negative type 1 diabetes mellitus.
Journal of pediatric endocrinology & metabolism : JPEMIdiopathic Musical Ear Syndrome in a Young Adult: A Case Report and Therapeutic Response.
American journal of audiologyLong-term comorbidity patterns in juvenile idiopathic arthritis.
Clinical and experimental rheumatologyVitreous and Serum Levels of IL-1β and IL-33 in Proliferative Diabetic Retinopathy: Evaluation of Local Versus Systemic Inflammatory Signatures.
Journal of ocular pharmacology and therapeutics : the official journal of the Association for Ocular Pharmacology and TherapeuticsPrevalence of antisynthetase antibodies in a multicentre early rheumatoid arthritis cohort.
Acta clinica BelgicaCarrington's Disease: A Case Report.
CureusOverview of elbow arthritis, a rare involvement in patients with juvenile idiopathic arthritis.
Advances in rheumatology (London, England)Comparative efficacy and safety of rituximab versus cyclophosphamide with steroids in primary membranous nephropathy: a systematic review and meta-analysis.
BMC nephrologyInterfollicular Plasmacytosis and Hyperplastic Germinal Centers in Idiopathic Multicentric Castleman Disease, Idiopathic Plasmacytic Lymphadenopathy Subtype.
American journal of hematologyThe Interphase Gap Effect in Cochlear Implant Users: Biological Basis, Parameter Selection, Analytical Methods, and Quantitative Scales.
Journal of the Association for Research in Otolaryngology : JAROIdiopathic intracranial hypertension patients can be effectively managed using an OCT-based telemedicine model.
Eye (London, England)[Bleeding characteristics in pregnant patients with immune thrombocytopenia and severe thrombocytopenia].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi[Construction and evaluation of a thrombosis risk prediction model in patients with primary immune thrombocytopenia].
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi[Fu's subcutaneous needling for postauricular pain in the treatment of acute idiopathic facial paralysis: a randomized controlled trial].
Zhongguo zhen jiu = Chinese acupuncture & moxibustion[Implant Arthroplasty of the Wrist Joint - History, Prevalence, Complications and Results of Wrist Implant Arthroplasty].
Handchirurgie, Mikrochirurgie, plastische Chirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Handchirurgie : Organ der Deutschsprachigen Arbeitsgemeinschaft fur Mikrochirurgie der Peripheren Nerven und Gefasse : Organ der V...Future directions in infertility research: the role of generative AI and large language models.
Systems biology in reproductive medicineCorrelating symptoms and skin α-synuclein seeding parameters in olfactory dysfunction and Lewy body dementia.
Journal of neurology[Basal ganglia and movement disorders : Part 1: the parkinsonian spectrum-Neuroradiological patterns and diagnostic considerations].
Radiologie (Heidelberg, Germany)Chagas Heart Disease: Social Determinants and Delayed Diagnosis.
JACC. Case reportsPregnancy outcomes in juvenile idiopathic arthritis: systematic review and meta-analysis.
Proceedings (Baylor University. Medical Center)Juvenile idiopathic arthritis and pregnancy.
Proceedings (Baylor University. Medical Center)Outcome of tibialis anterior tendon transfer in recurrent relapsed clubfoot deformity with concomitant peroneal nerve dysfunction.
Pakistan journal of medical sciencesAI-powered speech analysis for early prediction of Parkinson's disease:: [Quantitative hypokinetic dysarthria as a biomarker for early Parkinson's detection: A machine learning approach].
Digital healthPathomechanism of LYPD6 enhancing abnormal hyperostosis via Wnt/β-catenin signaling pathway in diffuse idiopathic skeletal hyperostosis.
Journal of orthopaedic translationAsymmetrical paravertebral muscles fibrosis causes progression of adolescent idiopathic scoliosis via myostatin signalling in fibro-adipogenic progenitors.
Journal of orthopaedic translationCausal neurodevelopmental origins of scoliosis: Multi-omics Mendelian randomization reveals brain-region-specific pathways and protein mediators.
Journal of orthopaedic translationCase Report: Endothelial-targeted bridging therapy for a TTP-like phenotype in fulminant iMCD-TAFRO.
Frontiers in immunologyCAR T cell therapy for fighting IPF: perspectives on a living drug.
Frontiers in immunologyThe Impact of Muscle Fatigue on McArdle Disease: A Case Report.
CureusMechanistic Insights and Emerging Therapeutic Strategies in Recurrent Pericarditis.
Methodist DeBakey cardiovascular journalConstrictive Pericarditis and Effusive Constrictive Pericarditis: Is There a Role for Medical Therapy?
Methodist DeBakey cardiovascular journalCan neurologic music therapy make the difference when using immersive virtual reality in Parkinson disease motor training? Promising findings from a secondary analysis.
Frontiers in rehabilitation sciences[Whole Exome Sequencing Identified Novel Pathogenic Mutations of ADGB in Patients With Oligoasthenozoospermia].
Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science editionEffects of active action observation on cognitive, emotional, motor, and somatosensory outcomes in adolescents with juvenile idiopathic arthritis: a prospective exploratory case series.
Frontiers in human neuroscienceLived Experiences of Vertebral Body Tethering: A Qualitative Study of the Patient Journey.
Pediatric health, medicine and therapeuticsTrajectories and Predictors of Activity Participation Among People with Parkinson Disease: A 3-Year Longitudinal Study.
Archives of rehabilitation research and clinical translationBiallelic XPR1 Variants Are Linked to Brain Calcifications, Developmental Delay, Hypophosphatemia, and Cardiopulmonary Phenotype.
Clinical genetics[Idiopathic granulomatous mastitis - a rare inflammatory condition].
LakartidningenFatal Cardiomyopathy Secondary to Seronegative Immune-Mediated Necrotizing Myopathy: A Case Report.
The American journal of case reports[Progress on the diagnosis and treatment of juvenile idiopathic inflammatory myopathies].
Zhonghua er ke za zhi = Chinese journal of pediatricsComparison of median nerve conduction parameters from the index and middle fingers in carpal tunnel syndrome: Toward a standardized electrophysiological evaluation protocol.
PM & R : the journal of injury, function, and rehabilitationPredominant Symptom in Gastroparesis: Relationships to Quality of Life, Treatments, and Outcome.
Neurogastroenterology and motilityClinical Presentation and Epidemiology of Spontaneous Cerebrospinal Fluid Leaks.
Otolaryngologic clinics of North AmericaValidation of pre-flight algorithms in predicting hypoxic challenge testing (HCT) outcomes in interstitial lung disease (ILD).
Therapeutic advances in respiratory diseaseRedefining Hematology Referral Thresholds for Eosinophilia.
European journal of haematologyDeletion of STIM1 in Treg cells protects against lung fibrosis and associated cardiovascular complications in a pre-clinical mouse model.
Redox biologySinominine alleviates pulmonary fibrosis by suppressing macrophage-to-myofibroblast transition via inhibition of the Frem1/NF-κB/IL-1β axis.
International immunopharmacologyIdiopathic inflammatory ascites after laparoscopic cholecystectomy: A case report.
Medicina clinicaGlucagon-like peptide-1 receptor agonists and the risk of surgical intervention in idiopathic intracranial hypertension: A propensity-matched cohort study.
Clinical neurology and neurosurgeryMuscle MR Radiomics for Evaluation of Idiopathic Inflammatory Myopathies.
Current medical imagingOrganizing pneumonia potentially caused by infliximab in a pediatric patient with ulcerative colitis.
Allergy, asthma, and clinical immunology : official journal of the Canadian Society of Allergy and Clinical ImmunologyRole of impulse oscillometry in understanding the changes in physiomechanics of respiratory system in diffuse parenchymal lung diseases.
The Indian journal of tuberculosisPerformance of omalizumab in patients with mast cell-mediated angioedema with and without wheals.
The journal of allergy and clinical immunology. In practiceA Practical Phenotyping Framework for Male LUTS Using Remote Multi-Day Urinary Diagnostics.
UrologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Síndrome epiléptico familiar, idiopático ou criptogênico, com locus/gene identificado.
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
É uma classificação internacional para formas de epilepsia que atingem vários indivíduos de uma mesma linhagem familiar e contam com determinantes genéticos conhecidos. Ela se encontra cadastrada sob o código ORPHA:166475 e o termo MONDO:0015654.
Referências
Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete
3 fontes citadas no texto · 9 publicações do grafo RarasNet (PubMed) · 3 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). Síndrome epiléptico familiar, idiopático ou criptogênico, com locus/gene identificado. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/sindrome-epileptico-familiar-idiopatico-ou-criptogenico-com-locusgene-identificado
Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
Síndrome epiléptico familiar, idiopático ou criptogênico, com locus/gene identificado
📋 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