A Síndrome de Epilepsia Generalizada e Discinesia Paroxística é uma condição caracterizada pela presença conjunta de discinesia paroxística (movimentos involuntários e repetitivos que surgem de repente e desaparecem) e epilepsia generalizada (crises que afetam todo o cérebro, geralmente crises de ausência — onde a pessoa parece "desligar" por um instante — ou crises tônico-clônicas generalizadas — que causam tremores e perda de consciência). Essas manifestações podem ocorrer na mesma pessoa ou em diferentes membros da mesma família. A prevalência (o número de casos na população) é desconhecida. A análise de uma das famílias afetadas levou à identificação de uma mutação (alteração) no gene KCNMA1 (localizado no cromossomo 10q22), que é responsável pela produção da subunidade alfa, uma parte essencial de um canal celular chamado BK. A transmissão é autossômica dominante, o que significa que basta herdar uma cópia alterada do gene de um dos pais para desenvolver a condição.
Introdução
O que você precisa saber de cara
A Síndrome de Epilepsia Generalizada e Discinesia Paroxística é uma condição caracterizada pela presença conjunta de discinesia paroxística (movimentos involuntários e repetitivos que surgem de repente e desaparecem) e epilepsia generalizada (crises que afetam todo o cérebro, geralmente crises de ausência — onde a pessoa parece "desligar" por um instante — ou crises tônico-clônicas generalizadas — que causam tremores e perda de consciência). Essas manifestações podem ocorrer na mesma pessoa ou em diferentes membros da mesma família. A prevalência (o número de casos na população) é desconhecida. A análise de uma das famílias afetadas levou à identificação de uma mutação (alteração) no gene KCNMA1 (localizado no cromossomo 10q22), que é responsável pela produção da subunidade alfa, uma parte essencial de um canal celular chamado BK. A transmissão é autossômica dominante, o que significa que basta herdar uma cópia alterada do gene de um dos pais para desenvolver a condição.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 9 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
Triagem neonatal (Teste do Pezinho)
A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Potassium channel activated by both membrane depolarization or increase in cytosolic Ca(2+) that mediates export of K(+) (PubMed:14523450, PubMed:29330545, PubMed:31152168). It is also activated by the concentration of cytosolic Mg(2+). Its activation dampens the excitatory events that elevate the cytosolic Ca(2+) concentration and/or depolarize the cell membrane. It therefore contributes to repolarization of the membrane potential. Plays a key role in controlling excitability in a number of sys
Cell membrane
Paroxysmal non-kinesigenic dyskinesia 3 with or without generalized epilepsy
An autosomal dominant neurologic disorder characterized by absence seizures, generalized tonic-clonic seizures, paroxysmal nonkinesigenic dyskinesia and involuntary dystonic or choreiform movements. Onset is usually in childhood. Patients may have seizures only, dyskinesia only, or both.
Variantes genéticas (ClinVar)
269 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 1,163 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
4 vias biológicas associadas aos genes desta condição.
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 — Epilepsia generalizada - discinesia paroxística
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
Ensaios em destaque
🟢 Recrutando agora
1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
Publicações mais relevantes
Clinical features of adolescent-onset functional motor disorders in tertiary movement disorders centers.
Os Transtornos Motores Funcionais (TMFs) em adolescentes representam um desafio diagnóstico e terapêutico, levando a um maior número de consultas médicas e atrasos antes de um diagnóstico preciso. Nestes pacientes, são mais frequentes as crises funcionais e infecções, em comparação com os adultos, que tendem a ter mais insônia e fadiga. Um diagnóstico precoce e preciso é crucial para evitar investigações desnecessárias e tratamentos inadequados, melhorando o cuidado e a experiência de pacientes e médicos.
🇧🇷 traduzidoBrain Age Estimation on T2-FLAIR Scans for Application to Multiple Sclerosis.
Este estudo desenvolveu um modelo para estimar a idade cerebral usando exames de ressonância magnética T2-FLAIR, que são rotineiramente utilizados na prática clínica da Esclerose Múltipla (EM), ao contrário dos modelos anteriores baseados em T1. O novo modelo demonstrou ser tão preciso quanto os de T1, e a diferença de idade cerebral prevista (brain-PAD) se correlacionou significativamente com a gravidade e a progressão da EM. Isso oferece a médicos e pacientes um biomarcador facilmente acessível para monitorar a doença e guiar decisões clínicas na EM.
🇧🇷 traduzidoLowering the HTT1a transcript as an effective therapy for Huntington's disease in a knockin mouse model.
Este estudo sobre a doença de Huntington (DH) revela que a condição é impulsionada pela produção da proteína tóxica HTT1a, cuja quantidade aumenta com a expansão da repetição genética CAG. Pesquisadores testaram em camundongos a redução do RNA mensageiro da proteína HTT completa versus a redução específica do RNA da HTT1a. Os resultados indicaram que, apesar de ambas as estratégias trazerem benefícios, focar na HTT1a foi significativamente mais eficaz para atrasar a agregação da proteína e a disfunção celular. Para pacientes e médicos, isso sugere que futuras terapias para a DH podem ser otimizadas ao mirar diretamente na redução da transcriptase HTT1a, potencializando o combate à progressão da doença.
🇧🇷 traduzidoSelective targeting of mutant huntingtin intron 1 improves rescue provided by antisense oligonucleotides in Huntington's disease mice.
Para a Doença de Huntington (DH), pesquisadores desenvolveram um novo tipo de terapia com oligonucleotídeos antissenso (ASOs) que visa seletivamente a forma mutante da proteína (mHTT) e, crucialmente, uma de suas variantes mais tóxicas e impactantes, a HTT1a. Esta abordagem se mostrou superior às anteriores em camundongos, pois foi capaz de eliminar a formação de agregados de proteína no cérebro e proteger contra danos genéticos. Os achados sugerem que focar na redução da HTT1a pode ser uma estratégia terapêutica fundamental para os pacientes, oferecendo um benefício significativamente maior.
🇧🇷 traduzidoEffect of rhythmic auditory stimulation (RAS)® with and without melody on Parkinson's disease (PD) patients with deep brain stimulation (DBS): A study protocol.
Por favor, note que o artigo científico fornecido é sobre a Doença de Parkinson, e não sobre a síndrome de discinesia paroxística da epilepsia generalizada, como solicitado inicialmente. O resumo abaixo foca nos pontos relevantes para pacientes e médicos sobre a Doença de Parkinson: A Doença de Parkinson (DP) causa problemas de marcha e quedas, e embora a Estimulação Cerebral Profunda (DBS) melhore tremores e rigidez, sua eficácia na marcha é limitada. Este estudo investigará como a Estimulação Auditiva Rítmica (RAS), tanto com ritmo puro (metrônomo) quanto com música, pode melhorar a marcha em pacientes com DP que já possuem DBS. Serão avaliadas as respostas comportamentais (marcha) e neurofisiológicas (sinais cerebrais via DBS), buscando entender os mecanismos da RAS para desenvolver terapias mais eficazes para a marcha no futuro.
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Frontiers in public healthBudget impact analysis of deep brain stimulation devices with different longevity in Parkinson's disease: insights from real-world data.
Frontiers in public healthRisk Factors for Postoperative Complications After Splenectomy in Wilson's Disease: A 986-Patient Single-Center Cohort Study.
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Scandinavian journal of immunologyTaurine modulates gut microbiota and attenuates inflammation in a rotenone-induced mouse model of Parkinson's disease.
NeurotoxicologyTreatment modifiers of interpersonal functioning in psychotherapy for people with borderline personality disorder: Systematic review with meta-analyses of individual participant data.
Clinical psychology reviewPerformance of machine learning algorithms in diffusion tensor imaging of movement disorders: an exploratory meta-analysis.
Biomedical engineering onlineDeep neurobehavioral phenotyping uncovers neural fingerprints of locomotor deficits in Parkinson's disease.
NPJ Parkinson's diseaseWhen is pharmacotherapy necessary for Tourette syndrome? The risks vs reward.
Expert opinion on pharmacotherapyComplementarity of Long-Reads and Optical Mapping in Parkinson's Disease for Structural Variants.
Annals of clinical and translational neurologyDeep learning-based one-stop 11C-CFT and 18F-FDG dual-tracer brain PET imaging protocol for Parkinson's disease.
Brain research bulletinProbabilistic mapping and automated segmentation of human brainstem white matter bundles.
Proceedings of the National Academy of Sciences of the United States of AmericaEpidemiological and comorbidity burden in transfusion-dependent patients with thalassemia and sickle cell disease in Greece.
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Journal of the American Chemical SocietySaccadic eye movements based classification of patients with obsessive-compulsive disorder, patients with schizophrenia and healthy controls using artificial neural networks.
Cognitive neurodynamicsThe deep brain stimulation response network in Parkinson's disease operates in the high beta band.
Brain : a journal of neurology[Analysis of DNAH11 gene variants and clinical characteristics of a Chinese pedigree affected with Primary ciliary dyskinesia].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsThe efficacy and safety of high-frequency SMA-rTMS on freezing of gait in patients with Parkinson's disease: a study protocol for a randomized controlled trial.
BMC complementary medicine and therapiesA patient with anti-IgLON5 disease associated with cerebral hemorrhage, multiple ischemic strokes, and kidney failure: case report.
Journal of neurologyAccelerating Medicines Partnership® Parkinson's Disease Proteomics: A Comprehensive Resource for Advancing Parkinson's Disease Research.
Movement disorders : official journal of the Movement Disorder SocietyDiagnostic yield of genome sequencing in children with progressive movement disorders.
Brain : a journal of neurologyRelationship between adjustability of grasping force and upper limb/hand function in individuals with cerebrovascular disorders.
Scientific reportsAn ensemble machine learning classifier for Parkinson's disease diagnosis using optical coherence tomography angiography.
Scientific reportsFeasibility and potential effectiveness of an exergame program for people with moderate to advanced Parkinson's disease: A pilot randomized controlled trial.
Journal of Parkinson's diseaseDouble-Duty Drugs: Repositioning Antipsychotics to Combat Bacterial Infections.
CNS neuroscience & therapeuticsExplosive outbursts in Tourette syndrome and chronic tic disorders.
Handbook of clinical neurologyFunctional tics and tic-like behaviors.
Handbook of clinical neurologyOverview of support associations and other useful resources.
Handbook of clinical neurologyNeuroimaging of tic disorders.
Handbook of clinical neurologyMinimal Clinically Important Difference on Cognitive Measures for Huntington's Disease Using Function as an Anchor.
Movement disorders : official journal of the Movement Disorder SocietyAtrophin-1 antisense oligonucleotide provides robust protection from pathology in a fully humanized DRPLA model.
Molecular therapy. Nucleic acidsAltered Cerebrospinal Fluid Tryptophan-Kynurenine Pathway Metabolism in Multiple System Atrophy.
Movement disorders : official journal of the Movement Disorder SocietyFibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.
Annals of neurologyThe interplay between GBA1 status and age of onset on cognitive, motor and non-motor outcomes in Parkinson's disease: multicenter cross-sectional study.
Journal of neurologyEffects of Mind-body Movement Interventions for Managing Symptoms in People with Multiple Sclerosis: An Overview of Reviews.
Current neurology and neuroscience reportsTelemedicine in epilepsy care: A Nationwide survey by the Italian Chapter of the International League Against Epilepsy (LICE) on adoption, barriers, and perceived value.
Epilepsia openMolecular features of human pathological tau distinguish tauopathy-associated dementias.
CellIndependent directional tuning of the human triceps surae muscles during standing postural control.
Journal of applied physiology (Bethesda, Md. : 1985)Identifying Drugs Associated With Parkinson's Disease Risk Using Machine Learning.
Basic & clinical pharmacology & toxicologyBeta burst characteristics predict instantaneous hand movements in Parkinson's disease.
Neurobiology of diseaseLoss of serotonergic function in carriers of PRKN mutations: a [11C]DASB PET study.
European journal of nuclear medicine and molecular imagingDiagnostic Performance of the α-Synuclein Seed Amplification Assay for Dementia With Lewy Bodies: A Comparison Across 4 Laboratories.
NeurologyLong-Term Effectiveness and Persistence Factors of Anti-CGRP Monoclonal Antibodies in Migraine: 2-Year Results From the EUREkA Cohort.
NeurologyHEAD-WINd®: A nationwide cohort study of headache disorders in danish adults using survey, smartphone and registry data.
Cephalalgia : an international journal of headacheInsights into the translation and adaptation of an instrument for measuring time processing abilities among individuals with visual and intellectual disabilities.
Acta psychologicaBAP31 Modulates Mitochondrial Homeostasis Through PINK1/Parkin Pathway in MPTP Parkinsonism Mouse Models.
CellsHereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.
International journal of molecular sciencesPrevalence of Functional Constipation in Children with Down Syndrome: A Study Conducted at a General Pediatrics Service.
BiomedicinesEvaluation of idiopathic olfactory dysfunction as a warning marker for early parkinson's disease: a population-based cross-sectional study.
Scientific reportsStructural MRI Biomarkers of Intracranial Pressure in IIH: Linking Optic Nerve Sheath, Pituitary Morphology, and Hormonal Changes.
Clinical neuroradiologyPeriodic and Aperiodic Electroencephalographic Rhythms During Vigilance Transitions in Alzheimer's Disease Mild Cognitive Impairment.
Annals of the New York Academy of SciencesDeterminants of Qi Gong, Tai Chi, and Yoga Use for Health Conditions: A Systematic Review Protocol.
Global advances in integrative medicine and healthNatural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.
Journal of neurologyLingual Dyskinesia Developing after the First Dose of Methylphenidate Treatment in a Child with Neurodevelopmental Disorders: Genetic Predispositions.
Clinical psychopharmacology and neuroscience : the official scientific journal of the Korean College of NeuropsychopharmacologyMechanisms and therapeutic potential of migrasomes in neurological disorders.
Cellular signallingSexual dysfunction in Parkinson's disease: what about women?
Journal of the neurological sciencesPotential role of MRI to optimize clinical trial design for progressive supranuclear palsy and corticobasal degeneration.
The journal of prevention of Alzheimer's diseaseAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Clinical features of adolescent-onset functional motor disorders in tertiary movement disorders centers.
- Brain Age Estimation on T2-FLAIR Scans for Application to Multiple Sclerosis.
- Lowering the HTT1a transcript as an effective therapy for Huntington's disease in a knockin mouse model.
- Selective targeting of mutant huntingtin intron 1 improves rescue provided by antisense oligonucleotides in Huntington's disease mice.
- Effect of rhythmic auditory stimulation (RAS)® with and without melody on Parkinson's disease (PD) patients with deep brain stimulation (DBS): A study protocol.
- Compensatory and Dynamic Cerebellar Responses to Striatal Lesions in Experimental Parkinsonism.
- All-Cause and Cause-Specific Mortality in Drug-Induced Dystonia and Dyskinesia: Evidence from a Population-Based Cohort.
- Patent Ductus Arteriosus Persistence and Neurodevelopmental Outcomes: A Restrictive Treatment Approach Does Not Compromise Neurological Development.
- Transanal Irrigation in patients with Parkinson's Disease and chronic constipation: rebalancing the Gut Microbiota?
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:79137(Orphanet)
- OMIM OMIM:609446(OMIM)
- MONDO:0012276(MONDO)
- Epilepsia(PCDT · Ministério da Saúde)
- GARD:16704(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55783675(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar