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Síndrome epiléptico familiar, idiopático ou criptogênico, com locus/gene identificado
ORPHA:166475PCDT · SUSDOENÇA RARA

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.

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Introdução

O que você precisa saber de cara

Mantido pelo Disease Twin100% com fonte · atualizado 05/06/2026Revisão médica pendente
Informacoes curadas por IA — podem conter imprecisoes

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]

Fontes numeradas em Referências.

Conteúdo informativo gerado e mantido automaticamente a partir de fontes oficiais (Orphanet, HPO, OMIM, SUS). Não substitui avaliação médica.

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EM LINGUAGEM SIMPLES

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.

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Informacoes curadas por IA — podem conter imprecisoes

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.

Medicamentos
14 com registro
LAMOTRIGINA, LAMITOR CD, FORLUT

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LAMOTRIGINALAMITOR CDFORLUTLAMOSYN CDLAMEZNEPILL�PTICOLAMICTAL
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SUS: Cobertura parcialScore: 30%
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Sinais e sintomas

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

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Anos de pesquisa1
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Genética e causas

O que está alterado no DNA e como passa nas famílias

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Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

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Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

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

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Ensaios clínicos abertos e novidades científicas recentes

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Clinical predictors of relapse and severe disease phenotype in children with non-systemic juvenile idiopathic arthritis.

European journal of pediatrics2026 Mar 24

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.

🇧🇷 traduzido
#2

Genetically confirmed Dubin-Johnson syndrome presenting as long-standing isolated conjugated hyperbilirubinaemia.

BMJ case reports2026 Mar 23

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.

🇧🇷 traduzido
#3

Correction: Integrated bioinformatics-based identification of proliferative diabetic retinopathy and idiopathic pulmonary fibrosis: Focus on fibrosis and immune infiltration.

PloS one2026

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.

🇧🇷 traduzido
#4

GEN-KnowRD: Reframing AI for Rare Disease Recognition.

medRxiv : the preprint server for health sciences2026 Mar 03

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.

🇧🇷 traduzido
#5

Fronto-medial theta instability error signal correlates with postural sway in Parkinson's disease and progressive supranuclear palsy.

Journal of the neurological sciences2026 Mar 14

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.

🇧🇷 traduzido

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Clinical predictors of relapse and severe disease phenotype in children with non-systemic juvenile idiopathic arthritis.

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GEN-KnowRD: Reframing AI for Rare Disease Recognition.

medRxiv : the preprint server for health sciences
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Transcriptomic analysis reveals lipid metabolism and macrophage involvement associated with nintedanib treatment in a rat bleomycin model.

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Morel Lavallée Lesion Following Excessive Physiotherapy for Ankle Arthritis in a Child with Juvenile Idiopathic Arthritis: Correspondence.

Indian journal of pediatrics
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Improved quality of life, reduced quantitative lung fibrosis in a trial of inhaled pirfenidone for idiopathic pulmonary fibrosis.

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Consensus palliative care referral criteria for people with idiopathic pulmonary fibrosis: An international Delphi study.

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Idiopathic Mondor's Disease: A Rare Cause of Chest Pain.

The American journal of medicine
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Clinical characteristics and quality of life measures in children with glaucoma-suspect or glaucoma diagnoses in chronic, noninfectious uveitis.

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Delayed hemothorax in adolescent idiopathic scoliosis 5-year post-spinal fusion.

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Clinical and hemodynamic evaluation of schistosomiasis-associated pulmonary arterial hypertension from Egyptian pulmonary hypertension centers: epidemiology, risk factors, and survival determinants.

Scientific reports
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Hand clinics
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Co-exposure to polystyrene nanoplastics and 3, 3', 4, 4', 5-pentachlorobiphenyl induces synergistic toxicity in human sperm.

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Fronto-medial theta instability error signal correlates with postural sway in Parkinson's disease and progressive supranuclear palsy.

Journal of the neurological sciences
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The Auditory Manifestations of Autoimmune Rheumatologic Diseases: A Review of Current Evidence.

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Large Language Models for Interpreting Standardized Neuropsychological Summaries in Idiopathic Normal Pressure Hydrocephalus: A Pilot Comparative Study.

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Cardiac MRI differentiates classical idiopathic pulmonary arterial hypertension from lung phenotype and group 3 pulmonary hypertension.

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Cardiovascular research
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Impact of contralateral sensorineural hearing loss on prognosis in idiopathic sudden sensorineural hearing loss.

PloS one
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Recommended Medical Investigations in Pediatric Acute-Onset Neuropsychiatric Syndrome.

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Frontiers in endocrinology
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Investigation of adolescent cases diagnosed with idiopathic/genetic generalized epilepsy in terms of self-esteem, aggression, body perception, and alexithymia.

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Task-specific compensatory joint control strategies in adolescent idiopathic scoliosis during dynamic balance tasks.

Scientific reports
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Rheumatic diseases in childhood: Clinical and immunological characteristics of a pediatric cohort at a tertiary hospital.

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Single-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 ophthalmology
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Towards causal validation and clinical translation of the PAK2-fibroblast axis in idiopathic pulmonary fibrosis.

The European respiratory journal
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Identifying prioritization of potential targets for idiopathic pulmonary fibrosis: Proteome-wide Mendelian randomization and colocalization analyses.

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Gene expression and metadata based identification of key genes for lung cancer, COPD, and IPF using machine learning and statistical models.

PloS one
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Paradoxical Expression of Ionotropic Glutamate Receptors in Leucocytes.

Clinical reviews in allergy & immunology
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Semi-quantitative analyses of muscle magnetic resonance imaging for pattern recognition in early idiopathic inflammatory myopathies.

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Associations between physical fitness and idiopathic scoliosis in Chinese adolescents: A case-control study.

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Idiopathic male infertility revisited: can redox endophenotypes reframe the 'idiopathic' label?

Frontiers in endocrinology
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Current opinion in rheumatology
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Idiopathic nodular glomerulosclerosis and diabetic nephropathy: a histological and prognostic comparison highlighting the impact of smoking.

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Deep-learning-based de novo discovery and design of therapeutics that reverse disease-associated transcriptional phenotypes.

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ACS medicinal chemistry letters
2026

Dual knockdown of Alox15 and TGF-β1 by lipid nanoparticle-delivered siRNA in bleomycin-induced pulmonary fibrosis.

Biochemistry and biophysics reports
2026

Clinical Features and Management of Optic Neuritis in a Cohort of Patients with Combined Central and Peripheral Demyelination.

Neuro-ophthalmology (Aeolus Press)
2026

Choroidal Neovascular Membrane Formation in Idiopathic Intracranial Hypertension: A Scoping Review.

Neuro-ophthalmology (Aeolus Press)
2026

Spontaneous renal artery dissection with renal artery stenting: A case report.

Urology case reports
2026

Pharmacological mechanism of active components in Polygonatum odoratum for idiopathic pulmonary fibrosis: a study integrating bioinformatics and experimental validation.

Frontiers in pharmacology
2026

Vps35 p. D620N causes Lrrk2 kinase hyperactivity, chronic microglial activation and inflammation.

bioRxiv : the preprint server for biology
2026

Deep-learning networks accurately detect pulmonary hypertension in patients with idiopathic pulmonary fibrosis.

ERJ open research
2026

The COCOS-IPF core outcome set for idiopathic pulmonary fibrosis/progressive pulmonary fibrosis care: a mixed-method multi-perspective approach.

ERJ open research
2026

Keratin-5-positive basal-like epithelial cells associate with forced vital capacity in idiopathic pulmonary fibrosis; a cross-sectional analysis.

ERJ open research
2026

Design of a phase II randomised, double-blind, placebo-controlled, dose-finding trial of BI 1819479 in patients with idiopathic pulmonary fibrosis.

ERJ open research
2026

A phase 1 pharmacokinetics study of deupirfenidone (LYT-100) in healthy older adults.

ERJ open research
2026

Retroperitoneal Fibrosis Presenting With Duodenal Obstruction: A Fatal Case of Corticosteroid-Resistant Disease.

Cureus
2026

Personalized Treatment Outcomes in Idiopathic Granulomatous Mastitis: A Retrospective Study of Ninety-Two Patients.

European journal of breast health
2026

PHB2 acts as a braker of progressive pulmonary fibrosis via intervention of DDR2-elicited signaling.

Acta biochimica et biophysica Sinica
2026

Hydroxychloroquine for recurrent pericarditis: A multicentre observational study.

European journal of internal medicine
2026

Serum concentration of Surfactant protein D at diagnosis is associated with malnutrition in patients with idiopathic pulmonary fibrosis.

Respiratory medicine and research
2026

Severe Occupational Hypersensitivity Pneumonitis: A Case Series of Four Patients Requiring Lung Transplantation.

American journal of industrial medicine
2026

Artificial Intelligence Enabled Noninvasive Mapping of Cardiac Arrhythmia Origins Using the 12-Lead Electrocardiogram.

Journal of cardiovascular electrophysiology
2026

Uveitis of undifferentiated etiology: insights into diagnosis and evolution from a cohort of 338 patients.

BMC ophthalmology
2026

Preoperative pain experience and distribution in relation to mental health in Lenke type 1 and 2 adolescent idiopathic scoliosis: a prospective cross-sectional study.

Spine deformity
2026

Surgical outcomes in adult scheuermann's kyphosis: a matched-cohort comparison with adult idiopathic scoliosis as a clinical benchmark.

Spine deformity
2026

Effects of very early arthritis on pain, behavior, and hippocampal TNF/BDNF in rats.

Pediatric research
2026

Endoscopic 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 neurochirurgica
2026

Endothelial C-type natriuretic peptide/guanylyl cyclase-B signaling prevents pulmonary arterial hypertension.

Nature communications
2026

Efficacy and safety of TPO-RA combined with sirolimus in the treatment of relapsed immune thrombocytopenia.

Hematology (Amsterdam, Netherlands)
2026

Sagittal Spinal Alignment 2 Years After Vertebral Body Tethering.

Spine
2026

Extent of alveolar collapse in expiratory CT as a prognostic marker in idiopathic pulmonary fibrosis.

PloS one
2026

Reliability 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 Society
2026

Effects 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 Society
2026

The prevalence of autoimmune diseases in antibody negative type 1 diabetes mellitus.

Journal of pediatric endocrinology & metabolism : JPEM
2026

Idiopathic Musical Ear Syndrome in a Young Adult: A Case Report and Therapeutic Response.

American journal of audiology
2026

Long-term comorbidity patterns in juvenile idiopathic arthritis.

Clinical and experimental rheumatology
2026

Vitreous 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 Therapeutics
2026

Prevalence of antisynthetase antibodies in a multicentre early rheumatoid arthritis cohort.

Acta clinica Belgica
2026

Carrington's Disease: A Case Report.

Cureus
2026

Overview of elbow arthritis, a rare involvement in patients with juvenile idiopathic arthritis.

Advances in rheumatology (London, England)
2026

Comparative efficacy and safety of rituximab versus cyclophosphamide with steroids in primary membranous nephropathy: a systematic review and meta-analysis.

BMC nephrology
2026

Interfollicular Plasmacytosis and Hyperplastic Germinal Centers in Idiopathic Multicentric Castleman Disease, Idiopathic Plasmacytic Lymphadenopathy Subtype.

American journal of hematology
2026

The Interphase Gap Effect in Cochlear Implant Users: Biological Basis, Parameter Selection, Analytical Methods, and Quantitative Scales.

Journal of the Association for Research in Otolaryngology : JARO
2026

Idiopathic intracranial hypertension patients can be effectively managed using an OCT-based telemedicine model.

Eye (London, England)
2026

[Bleeding characteristics in pregnant patients with immune thrombocytopenia and severe thrombocytopenia].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2026

[Construction and evaluation of a thrombosis risk prediction model in patients with primary immune thrombocytopenia].

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi
2026

[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
2026

[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...
2026

Future directions in infertility research: the role of generative AI and large language models.

Systems biology in reproductive medicine
2026

Correlating symptoms and skin α-synuclein seeding parameters in olfactory dysfunction and Lewy body dementia.

Journal of neurology
2026

[Basal ganglia and movement disorders : Part 1: the parkinsonian spectrum-Neuroradiological patterns and diagnostic considerations].

Radiologie (Heidelberg, Germany)
2026

Chagas Heart Disease: Social Determinants and Delayed Diagnosis.

JACC. Case reports
2026

Pregnancy outcomes in juvenile idiopathic arthritis: systematic review and meta-analysis.

Proceedings (Baylor University. Medical Center)
2026

Juvenile idiopathic arthritis and pregnancy.

Proceedings (Baylor University. Medical Center)
2026

Outcome of tibialis anterior tendon transfer in recurrent relapsed clubfoot deformity with concomitant peroneal nerve dysfunction.

Pakistan journal of medical sciences
2026

AI-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 health
2026

Pathomechanism of LYPD6 enhancing abnormal hyperostosis via Wnt/β-catenin signaling pathway in diffuse idiopathic skeletal hyperostosis.

Journal of orthopaedic translation
2026

Asymmetrical paravertebral muscles fibrosis causes progression of adolescent idiopathic scoliosis via myostatin signalling in fibro-adipogenic progenitors.

Journal of orthopaedic translation
2026

Causal neurodevelopmental origins of scoliosis: Multi-omics Mendelian randomization reveals brain-region-specific pathways and protein mediators.

Journal of orthopaedic translation
2026

Case Report: Endothelial-targeted bridging therapy for a TTP-like phenotype in fulminant iMCD-TAFRO.

Frontiers in immunology
2026

CAR T cell therapy for fighting IPF: perspectives on a living drug.

Frontiers in immunology
2026

The Impact of Muscle Fatigue on McArdle Disease: A Case Report.

Cureus
2026

Mechanistic Insights and Emerging Therapeutic Strategies in Recurrent Pericarditis.

Methodist DeBakey cardiovascular journal
2026

Constrictive Pericarditis and Effusive Constrictive Pericarditis: Is There a Role for Medical Therapy?

Methodist DeBakey cardiovascular journal
2026

Can 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
2026

[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 edition
2026

Effects 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 neuroscience
2026

Lived Experiences of Vertebral Body Tethering: A Qualitative Study of the Patient Journey.

Pediatric health, medicine and therapeutics
2026

Trajectories and Predictors of Activity Participation Among People with Parkinson Disease: A 3-Year Longitudinal Study.

Archives of rehabilitation research and clinical translation
2026

Biallelic XPR1 Variants Are Linked to Brain Calcifications, Developmental Delay, Hypophosphatemia, and Cardiopulmonary Phenotype.

Clinical genetics
2026

[Idiopathic granulomatous mastitis - a rare inflammatory condition].

Lakartidningen
2026

Fatal Cardiomyopathy Secondary to Seronegative Immune-Mediated Necrotizing Myopathy: A Case Report.

The American journal of case reports
2026

[Progress on the diagnosis and treatment of juvenile idiopathic inflammatory myopathies].

Zhonghua er ke za zhi = Chinese journal of pediatrics
2026

Comparison 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 rehabilitation
2026

Predominant Symptom in Gastroparesis: Relationships to Quality of Life, Treatments, and Outcome.

Neurogastroenterology and motility
2026

Clinical Presentation and Epidemiology of Spontaneous Cerebrospinal Fluid Leaks.

Otolaryngologic clinics of North America
2026

Validation of pre-flight algorithms in predicting hypoxic challenge testing (HCT) outcomes in interstitial lung disease (ILD).

Therapeutic advances in respiratory disease
2026

Redefining Hematology Referral Thresholds for Eosinophilia.

European journal of haematology
2026

Deletion of STIM1 in Treg cells protects against lung fibrosis and associated cardiovascular complications in a pre-clinical mouse model.

Redox biology
2026

Sinominine alleviates pulmonary fibrosis by suppressing macrophage-to-myofibroblast transition via inhibition of the Frem1/NF-κB/IL-1β axis.

International immunopharmacology
2026

Idiopathic inflammatory ascites after laparoscopic cholecystectomy: A case report.

Medicina clinica
2026

Glucagon-like peptide-1 receptor agonists and the risk of surgical intervention in idiopathic intracranial hypertension: A propensity-matched cohort study.

Clinical neurology and neurosurgery
2026

Muscle MR Radiomics for Evaluation of Idiopathic Inflammatory Myopathies.

Current medical imaging
2026

Organizing 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 Immunology
2026

Role of impulse oscillometry in understanding the changes in physiomechanics of respiratory system in diffuse parenchymal lung diseases.

The Indian journal of tuberculosis
2026

Performance of omalizumab in patients with mast cell-mediated angioedema with and without wheals.

The journal of allergy and clinical immunology. In practice
2026

A Practical Phenotyping Framework for Male LUTS Using Remote Multi-Day Urinary Diagnostics.

Urology

Associações

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.

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Vai consultar um especialista? Confirme o registro dele no conselho.
Conselhos e sociedades

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

Respostas geradas por IA a partir das fontes citadas

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.

  1. MONDO
    purl.obolibrary.org
  2. GEN-KnowRD: Reframing AI for Rare Disease Recognition.
    medRxiv : the preprint server for health sciences2026PMID 41867212
  3. Epilepsia
    PCDT · Ministério da Saúde
  4. Q55785629
    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.

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

Compêndio · Raras BR

Síndrome epiléptico familiar, idiopático ou criptogênico, com locus/gene identificado

ORPHA:166475 · MONDO:0015654
🇧🇷 Brasil SUS
Geral
MedGen
UMLS
C5680431
Repurposing
14 candidatos
aminohydroxybutyric-acid — carbonic anhydrase inhibitor
diclofenamide — succinimide antiepileptic
ethosuximide — glutamate receptor antagonist
+11 outros
Wikidata

📋 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
Rara