Raras
Buscar doenças, sintomas, genes...
Epilepsia generalizada - discinesia paroxística
ORPHA:79137CID-10 · G40.3CID-11 · 8A61.2YOMIM 609446PCDT · SUSDOENÇA RARA

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.

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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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
Unknown
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Início
Childhood
🏥
SUS: Cobertura parcialScore: 50%
PCDT disponívelTriagem neonatal (Fase 5)CID-10: G40.3
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (2)
0202010694
Sequenciamento completo do exoma (WES)genetic_test
0301070040
Atendimento em reabilitação — doenças rarasrehabilitation
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Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

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

Partes do corpo afetadas

🧠
Neurológico
9 sintomas
🧬
Pele e cabelo
1 sintomas
👁️
Olhos
1 sintomas

+ 9 sintomas em outras categorias

Características mais comuns

100%prev.
Atraso global do desenvolvimento
Ocasional (29-5%)
100%prev.
Reflexos exaltados
Frequência: 2/2
93%prev.
Discinesia paroxística
Frequente (79-30%)
55%prev.
Crise de início generalizado
Frequente (79-30%)
54%prev.
Início na infância
Frequência: 7/13
50%prev.
Hipotonia
Muito frequente (~50%)
20sintomas
Muito frequente (3)
Frequente (6)
Ocasional (9)
Muito raro (1)
Sem dados (1)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 20 características clínicas mais associadas, ordenadas por frequência.

Atraso global do desenvolvimentoGlobal developmental delay
Ocasional (29-5%)100%
Reflexos exaltadosBrisk reflexes
Frequência: 2/2100%
Discinesia paroxísticaParoxysmal dyskinesia
Frequente (79-30%)93%
Crise de início generalizadoGeneralized-onset seizure
Frequente (79-30%)55%
Início na infânciaChildhood onset
Frequência: 7/1354%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Últimos 10 anos200publicações
Pico2026195 papers
Linha do tempo
2026Hoje · 2026🧪 2010Primeiro ensaio clínico
Publicações por ano (últimos 10 anos)

Triagem neonatal (Teste do Pezinho)

👶
Teste: qPCR para deleção de SMN1 em sangue seco
Fase 5 do PNTNpending
Incidência no Brasil: 1:10.000

A triagem neonatal permite diagnóstico precoce e início imediato do tratamento.

Encontrou um erro ou informação desatualizada? Sugira uma correção →

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.

KCNMA1Calcium-activated potassium channel subunit alpha-1Disease-causing germline mutation(s) inAltamente restrito
FUNÇÃO

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

LOCALIZAÇÃO

Cell membrane

VIAS BIOLÓGICAS (4)
cGMP effectsCa2+ activated K+ channelsAcetylcholine inhibits contraction of outer hair cellsSensory processing of sound by inner hair cells of the cochlea
MECANISMO DE DOENÇA

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.

EXPRESSÃO TECIDUAL(Ubíquo)
Útero
43.8 TPM
Cólon sigmoide
36.4 TPM
Artéria tibial
30.3 TPM
Esôfago - Muscular
29.5 TPM
Esôfago - Junção
29.3 TPM
OUTRAS DOENÇAS (4)
Liang-Wang syndromegeneralized epilepsy-paroxysmal dyskinesia syndromecerebellar atrophy, developmental delay, and seizuresepilepsy, idiopathic generalized, susceptibility to, 16
HGNC:6284UniProt:Q12791

Variantes genéticas (ClinVar)

269 variantes patogênicas registradas no ClinVar.

🧬 KCNMA1: NM_001161352.2(KCNMA1):c.2098dup (p.Met700fs) ()
🧬 KCNMA1: NM_001161352.2(KCNMA1):c.667G>T (p.Val223Leu) ()
🧬 KCNMA1: NM_001161352.2(KCNMA1):c.3342+1G>A ()
🧬 KCNMA1: NM_001161352.2(KCNMA1):c.2766G>A (p.Met922Ile) ()
🧬 KCNMA1: NM_001161352.2(KCNMA1):c.2267-4488C>T ()
Ver todas no ClinVar

Classificação de variantes (ClinVar)

Distribuição de 1,163 variantes classificadas pelo ClinVar.

523
640
VUS (45.0%)
Benigna (55.0%)
VARIANTES MAIS SIGNIFICATIVAS
KCNMA1: NM_001161352.2(KCNMA1):c.1499C>T (p.Ala500Val) [Uncertain significance]
KCNMA1: NM_001161352.2(KCNMA1):c.1072G>A (p.Val358Ile) [Uncertain significance]
KCNMA1: NM_001161352.2(KCNMA1):c.346A>G (p.Thr116Ala) [Uncertain significance]
KCNMA1: NM_001161352.2(KCNMA1):c.1334A>C (p.Asn445Thr) [Uncertain significance]
KCNMA1: NM_001161352.2(KCNMA1):c.2566G>A (p.Gly856Ser) [Uncertain significance]

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
·Pré-clínico1
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 1 ensaio
Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — 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

🟢 Recrutando agora

1 pesquisa recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

Outros ensaios clínicos

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Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Clinical features of adolescent-onset functional motor disorders in tertiary movement disorders centers.

Journal of neurology2026 Mar 22

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.

🇧🇷 traduzido
#2

Brain Age Estimation on T2-FLAIR Scans for Application to Multiple Sclerosis.

Human brain mapping2026 Apr 01

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.

🇧🇷 traduzido
#3

Lowering the HTT1a transcript as an effective therapy for Huntington's disease in a knockin mouse model.

Science translational medicine2026 Mar 18

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.

🇧🇷 traduzido
#4

Selective targeting of mutant huntingtin intron 1 improves rescue provided by antisense oligonucleotides in Huntington's disease mice.

Science translational medicine2026 Mar 18

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.

🇧🇷 traduzido
#5

Effect of rhythmic auditory stimulation (RAS)® with and without melody on Parkinson's disease (PD) patients with deep brain stimulation (DBS): A study protocol.

PloS one2026

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.

🇧🇷 traduzido

Publicações recentes

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Clinical features of adolescent-onset functional motor disorders in tertiary movement disorders centers.

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Brain Age Estimation on T2-FLAIR Scans for Application to Multiple Sclerosis.

Human brain mapping
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Lowering the HTT1a transcript as an effective therapy for Huntington's disease in a knockin mouse model.

Science translational medicine
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Selective targeting of mutant huntingtin intron 1 improves rescue provided by antisense oligonucleotides in Huntington's disease mice.

Science translational medicine
2026

Effect of rhythmic auditory stimulation (RAS)® with and without melody on Parkinson's disease (PD) patients with deep brain stimulation (DBS): A study protocol.

PloS one
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Childhood-Onset Huntington's Disease-Like Presentation of SCA17 with Intermediate Repeats, A Case Report.

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medRxiv : the preprint server for health sciences
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Molecular mechanisms underlying the ferroptosis-induced epileptiform activity in mouse cortical slices.

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Wearable sensors for monitoring drug pharmacokinetics in patients with Parkinson's disease.

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Emerging Role of Liquid Chromatography-Mass Spectrometry in the Clinical Laboratory Evaluation of Chronic Autonomic Failure.

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Early clinical characteristics of pathologically confirmed progressive supranuclear palsy and corticobasal degeneration.

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Anesthesia for patients with movement disorders.

Current opinion in anaesthesiology
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medRxiv : the preprint server for health sciences
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Clinical Guidance and Practical Recommendations for Probiotic Use in Patients With Irritable Bowel Syndrome, Functional Constipation, and Clostridium difficile Infection Considering Sex-based Differences.

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Polygenic risk scores and Parkinson's disease in South Africa advancing ancestry informed disease prediction.

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Neurocysticercosis in transition: expanding clinical spectrum, evolving diagnostics, and emerging therapies.

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Real-world data of opicapone in patients with Parkinson's disease experiencing motor fluctuations: the OPTIMO study.

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Embracing Pluralism: Rethinking Western Psychiatric Models for Equitable Global Mental Health.

Culture, medicine and psychiatry
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Effectiveness of a Novel Mono-Block Splint Versus a Twin-Block Splint for Anterior Disc Displacement With Reduction: A Randomised Controlled Trial.

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Plasma tau-species positive neuron-derived extracellular vesicles in progressive supranuclear palsy.

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Incidence and spatial variation of Parkinson's disease in the Netherlands (2017-2022): a population-based study.

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Advanced Parkinson's disease treatment patterns in Italy: results from a multicenter observational study.

Annals of medicine
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Patients with symmetric Parkinson's disease do poorly with subthalamic stimulation.

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A meta-analysis of smoking and fracture risk to update the FRAX® tool.

Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA
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Budget impact of xanomeline and trospium chloride for the treatment of adults with schizophrenia in the United States.

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Autophagy
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Association of mitochondrial genetic background with pS65-Ub in Lewy body disease.

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Cognition and metacognition in functional motor symptoms and functional seizures: a case-control study.

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Anxiety and depression as prodromes of Parkinson's disease: prospective findings from the Moli-sani study.

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Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion.

Proceedings of the National Academy of Sciences of the United States of America
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Daytime dysfunction and SUDEP risk: Exploring the role of sleep and heart rate variability in epilepsy.

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Bilateral pallidal deep brain stimulation versus bilateral pallidotomy in the management of post anoxic generalized dystonia.

Clinical neurology and neurosurgery
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Lifestyle factors and DNA methylation-based aging clocks: cross-sectional and longitudinal associations in the Singapore diet and healthy aging cohort.

The journal of prevention of Alzheimer's disease
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Sex differences in obstructive sleep apnea: a population-based study from northeastern Germany.

Sleep &amp; breathing = Schlaf &amp; Atmung
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Analyses of ATP7B mRNA in Nasopharyngeal Swab Samples Increase Yields of Wilson Disease Molecular Genetic Diagnostics.

Human mutation
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Predictors of Quality of Life in Parkinson's Disease: The Role of Mental Health and Internalized Stigma.

Actas espanolas de psiquiatria
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From RGB-D to RGB-Only: Reliability and Clinical Relevance of Markerless Skeletal Tracking for Postural Assessment in Parkinson's Disease.

Sensors (Basel, Switzerland)
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Symptom-Oriented, Connectome-Informed Deep Brain Stimulation for Asymmetric Dystonic Tremor: Unilateral Ventral Intermediate Nucleus (VIM) DBS Targeting a Tremor-Dominant Network.

Journal of clinical medicine
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Video and Wearable Sensor Technologies for Early Detection of Cerebral Palsy in Infants: A Scoping Review.

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Progressive Smartphone Restriction Combined with Psychoeducational Guidance and Pre-Sleep Autonomic Regulation Improves Sleep Efficiency and Time-of-Day Cognitive Performance in Physically Active Students with Nomophobia: A Randomized Controlled Trial.

Life (Basel, Switzerland)
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Mitoepigenetic Alterations in Early-Onset Parkinson's Disease.

International journal of molecular sciences
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Annurca Apple By-Products at Different Ripening Stages Inhibit AGE Formation and Protect Against AGE-Induced Cytotoxicity Through Antioxidant Activity.

Antioxidants (Basel, Switzerland)
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Perioperative Inflammatory Cytokines in Parkinson's Disease.

Biomolecules
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Differential Effects of Art Therapy and Dance/Movement Therapy on Emotional and Somatic Regulation in Early Psychopathology: First-Episode Psychosis and Eating Disorders.

Brain sciences
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Seeing without eyes: Relation between visual mental imagery and visual hallucinations.

Neuroscience and biobehavioral reviews
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Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant.

European journal of medical genetics
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Beyond Improvement of Motor Symptoms: Central Effects of Botulinum Toxin on Anxiety and Depression in Focal Dystonia, Hemifacial Spasm, and Blepharospasm.

Toxins
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The Effects of a Sport-Based Training Program on Reaction Time and Fine Motor Coordination in Children with Autism Spectrum Disorder: A Pilot Study.

Sports (Basel, Switzerland)
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Fenfluramine in SCN1A-related GEFS+: A multicenter observational study on efficacy, EEG improvement, and tolerability.

Epilepsia open
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KMT2B-related disorders in Austria: clinical features and long-term outcome after deep brain stimulation.

Frontiers in neurology
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High-amplitude short infraslow activity (SISA) with burst suppression: A potential marker of ictogenicity in critical care patients.

Epileptic disorders : international epilepsy journal with videotape
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The structure of personality in Parkinson's disease and the effects of age, years since diagnosis, and impulsivity.

PeerJ
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Exploring neural correlates of automated speech-based cognitive markers through resting-state functional connectivity in aging and at-risk Alzheimer's disease.

Alzheimer's research &amp; therapy
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In-person when necessary and available, remotely when possible - How telemedicine can support palliative care for persons with Parkinson's disease: a qualitative study.

BMC palliative care
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Increased Serum Neurofilament Light Chain Levels in Parkinson's Disease Patients Carrying the p.A53T SNCA Mutation: Data from the Parkinson's Progression Markers Initiative Study.

Movement disorders : official journal of the Movement Disorder Society
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How cytochrome P450 enzymes in humans are involved in Parkinson's disease: a literature review.

Neuroscience
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Gene therapy targeting synaptopathy linked with Alzheimer's and Parkinson's disease.

Neuroscience
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The North American Prodromal Synucleinopathy study: protocol for a multi-site, longitudinal, observational study of idiopathic/isolated rapid eye movement sleep behavior disorder.

Sleep advances : a journal of the Sleep Research Society
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Novel Variants in DCTN1 Associated with Perry Disease: A Case Series from a Chinese Parkinsonism Cohort.

Movement disorders : official journal of the Movement Disorder Society
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Generation of two isogenic control iPSC lines (LCSBi001-A-2 and LCSBi001-A-3) from a Parkinson's disease patient line (LCSBi001-A) carrying the pathogenic VPS35 p.D620N mutation.

Stem cell research
2026

Association of reduced REM sleep with mortality in adults with coronary artery disease and obstructive sleep apnea in the RICCADSA cohort.

Sleep &amp; breathing = Schlaf &amp; Atmung
2026

Under-Recognition of Rapid Eye Movement Sleep Behavior Disorder in Younger Populations.

Sleep medicine clinics
2026

The Neurology Fellowship Recruitment Timeline: History, Variable Progress, and the Path Ahead.

Seminars in neurology
2026

Discovery of 3-benzyloxy-6-arylpyridazine derivatives as novel multi-target agents toward Parkinson's disease therapy.

European journal of medicinal chemistry
2026

A data-driven SSM/PCA analysis approach for differential diagnosis of parkinsonism using 11C-PE2I PET.

NeuroImage. Clinical
2026

Cosmetic-Oriented Deep Brain Stimulation: A No-Shave Cranial and Trans-Axillary Fossa IPG Implantation Technique.

Stereotactic and functional neurosurgery
2026

Neuroinflammatory control of metabolism in huntington's disease: central role of P2 × 7 receptor mediated redox lipid/epigenetic crosstalk.

Inflammopharmacology
2026

Parkinson's Disease: From Gene-Environment Risk to Precision Therapy.

Medical sciences (Basel, Switzerland)
2026

Clinical Presentation and Evolution of Isolated Focal and Segmental Dystonia in Adults - 20 Years' Experience from a Botulinum Toxin Clinic.

Annals of Indian Academy of Neurology
2026

Generating graftable dopaminergic neurons by NR4A2 activation and exploring associated lncRNA signatures.

Life sciences
2026

The Role of Digital Tools in Meeting the Needs of Adults With Tourette Syndrome: A Human-Centered Design Approach.

JMIR formative research
2026

Altered functional connectivity related to prepulse inhibition in functional movement disorder.

NeuroImage. Clinical
2026

Nocturnal Ballistic Bouts in ADCY5-Related Movement Disorder.

Cureus
2026

Addressing Gaps in Parkinson's Disease Etiology: The Need for a Polyexposure Score.

Movement disorders : official journal of the Movement Disorder Society
2026

Diagnosis challenges and accessibility barriers to migraine management in Southeast Asia: results from the South-East Asia Local breAch on MigraiNe Treatment (SEALANT) study.

The journal of headache and pain
2026

Pathological Protein Targets in Parkinson's Disease: Progress Towards the Development of Disease-Modifying Therapies.

CNS drugs
2026

α-synuclein monoclonal antibodies in Parkinson's disease: A failed promise or unmet potential?

Journal of the neurological sciences
2026

Integrative Transcriptomic Analysis Identifies Novel Mitochondrial Gene Targets in Parkinson's Disease.

Molecular neurobiology
2026

Stigma and risk of self-injury and suicidality in adults with Tourette syndrome: findings from a cross-sectional impact survey.

BMJ open
2026

The promise of GLP-1 receptor agonists for neurodegenerative diseases.

The Journal of clinical investigation
2026

Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.

Tremor and other hyperkinetic movements (New York, N.Y.)
2026

Generalized Dystonia in a Patient With Wilson Disease 5 Years After Liver Transplant: A Case Report.

Tremor and other hyperkinetic movements (New York, N.Y.)
2025

Objective Assessment of Attention Deficit Hyperactivity Disorder with QbMobile: A Smartphone Application for Clinical Use.

Clinical practice and epidemiology in mental health : CP &amp; EMH
2025

Zika virus infection disturbs development of human muscle progenitor cells.

Frontiers in cellular and infection microbiology
2026

From genes to trajectories: mapping genetic influences on Huntington's disease progression.

Bioinformatics (Oxford, England)
2026

Provision of pain care services for people with Parkinson's disease from the perspective of healthcare providers: A qualitative descriptive study.

International journal of nursing studies
2026

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia.

Nature communications
2026

Risk-Benefit Considerations in Deep Brain Stimulation Discontinuation for Late-Stage Parkinson's Disease.

Movement disorders clinical practice
2026

The serotonin receptor 7 as an emerging target to restore altered neuroplasticity in Angelman syndrome.

Experimental neurology
2026

A Scoping Review of Machine Learning Approaches for Predicting Lower Extremity Joint Contact Loads: Current Trends, Common Pitfalls and Future Directions.

IEEE transactions on bio-medical engineering
2026

Neuroprotective Herbs Associated with Parkinson's and Alzheimer's Disease.

Nutrients
2026

WADD-SEPD Consensus on Psychological Treatment of Dual Disorders II: Neurodevelopmental, Anxiety, Post-Traumatic Stress, Somatic Symptom, Eating, and Personality Disorders and Recommendations for Future Research.

Journal of clinical medicine
2026

Real-World Retrospective Safety Analysis of OnabotulinumtoxinA for the Treatment of Patients with Chronic Migraine and Concomitant Therapeutic Indications.

Pain and therapy
2026

Many types of comorbidities are associated with clinically diagnosed insomnia in United States military service members.

Sleep medicine
2026

Shared Pathogenic Pathways Between REM Sleep Behavior Disorder and Neurodegenerative and Psychiatric Disorders.

medRxiv : the preprint server for health sciences
2026

The CARMUCI Study Design: A Double-Blind, Cross-Over Sham-Controlled Trial of Indoor Air Purification in People With Cystic Fibrosis and Primary Ciliary Dyskinesia.

Pediatric pulmonology
2026

Sertraline-induced bruxism: a case report and review of the literature.

Journal of medical case reports
2026

Gait deviations in adolescent patients with Wilson disease and their possible connections with biochemical markers: preliminary results.

European journal of pediatrics
2026

Predictive Modeling of Preoperative Sleep Disorder Risk in Older Adults by Using Data From Wearable Monitoring Devices: Prospective Cohort Study.

JMIR formative research
2026

Association between leukocyte telomere length and neurodegenerative diseases: a prospective cohort in the UK Biobank.

Journal of neurology
2026

Parkinson's Disease Patient-Specific Striatum Organoids Show Hallmarks of Increased Inflammation.

Movement disorders : official journal of the Movement Disorder Society
2026

Wavelet-Based Tremor Quantification From Wrist-Worn Sensor Data in Home-Dwelling People With Parkinson's Disease.

IEEE journal of translational engineering in health and medicine
2026

Mitochondrial DNA drives NLRP3-IL-1β axis activation in microglia by binding to NLRP3, leading to neurodegeneration in Parkinson's disease models.

Cell death &amp; disease
2026

Understanding the gap: How much do healthcare professionals know about functional neurological disorders?

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia
2026

Navigating Communication, Social Connectedness, and Mental Health Burden as Hispanic/Latiné Care Partners of Individuals With Parkinson's Disease.

American journal of speech-language pathology
2026

A Case of Atypical Presentation of Paroxysmal Movement Disorder, Contributed to PRRT2 Gene Variant.

Journal of child neurology
2026

Comparative Effectiveness of Brivaracetam, Cenobamate, Lacosamide, and Perampanel in Focal Epilepsy.

JAMA neurology
2026

Consensus Paper: Models of Cerebellar Functions.

Cerebellum (London, England)
2026

[Pathophysiological and neurobiological basis for the development of depression in patients with Parkinson's disease].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2026

miR-221/222 Facilitate Pituitary Adenoma Progression Via PHACTR4 Downregulation.

Human mutation
2026

Modulation of striatal cAMP levels: A key pathway in the treatment of hyperkinetic movement disorders.

iScience
2025

Emotional exhaustion predicts poor sleep quality among orthopedic nurses: a cross-sectional study.

Frontiers in public health
2026

Budget impact analysis of deep brain stimulation devices with different longevity in Parkinson's disease: insights from real-world data.

Frontiers in public health
2026

Risk Factors for Postoperative Complications After Splenectomy in Wilson's Disease: A 986-Patient Single-Center Cohort Study.

Journal of investigative surgery : the official journal of the Academy of Surgical Research
2026

Role of CXCR3 and CXCR6 on Circulating T Cells in Patients With Parkinson's Disease.

Scandinavian journal of immunology
2026

Taurine modulates gut microbiota and attenuates inflammation in a rotenone-induced mouse model of Parkinson's disease.

Neurotoxicology
2026

Treatment modifiers of interpersonal functioning in psychotherapy for people with borderline personality disorder: Systematic review with meta-analyses of individual participant data.

Clinical psychology review
2026

Performance of machine learning algorithms in diffusion tensor imaging of movement disorders: an exploratory meta-analysis.

Biomedical engineering online
2026

Deep neurobehavioral phenotyping uncovers neural fingerprints of locomotor deficits in Parkinson's disease.

NPJ Parkinson's disease
2026

When is pharmacotherapy necessary for Tourette syndrome? The risks vs reward.

Expert opinion on pharmacotherapy
2026

Complementarity of Long-Reads and Optical Mapping in Parkinson's Disease for Structural Variants.

Annals of clinical and translational neurology
2026

Deep learning-based one-stop 11C-CFT and 18F-FDG dual-tracer brain PET imaging protocol for Parkinson's disease.

Brain research bulletin
2026

Probabilistic mapping and automated segmentation of human brainstem white matter bundles.

Proceedings of the National Academy of Sciences of the United States of America
2026

Epidemiological and comorbidity burden in transfusion-dependent patients with thalassemia and sickle cell disease in Greece.

Annals of hematology
2026

Mirror-Image L-DNA Aptamers Enable Stable In Vivo Dopamine Sensing.

Journal of the American Chemical Society
2026

Saccadic eye movements based classification of patients with obsessive-compulsive disorder, patients with schizophrenia and healthy controls using artificial neural networks.

Cognitive neurodynamics
2026

The deep brain stimulation response network in Parkinson's disease operates in the high beta band.

Brain : a journal of neurology
2025

[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 genetics
2026

The 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 therapies
2026

A patient with anti-IgLON5 disease associated with cerebral hemorrhage, multiple ischemic strokes, and kidney failure: case report.

Journal of neurology
2026

Accelerating Medicines Partnership® Parkinson's Disease Proteomics: A Comprehensive Resource for Advancing Parkinson's Disease Research.

Movement disorders : official journal of the Movement Disorder Society
2026

Diagnostic yield of genome sequencing in children with progressive movement disorders.

Brain : a journal of neurology
2026

Relationship between adjustability of grasping force and upper limb/hand function in individuals with cerebrovascular disorders.

Scientific reports
2026

An ensemble machine learning classifier for Parkinson's disease diagnosis using optical coherence tomography angiography.

Scientific reports
2026

Feasibility 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 disease
2026

Double-Duty Drugs: Repositioning Antipsychotics to Combat Bacterial Infections.

CNS neuroscience &amp; therapeutics
2026

Explosive outbursts in Tourette syndrome and chronic tic disorders.

Handbook of clinical neurology
2026

Functional tics and tic-like behaviors.

Handbook of clinical neurology
2026

Overview of support associations and other useful resources.

Handbook of clinical neurology
2026

Neuroimaging of tic disorders.

Handbook of clinical neurology
2026

Minimal Clinically Important Difference on Cognitive Measures for Huntington's Disease Using Function as an Anchor.

Movement disorders : official journal of the Movement Disorder Society
2026

Atrophin-1 antisense oligonucleotide provides robust protection from pathology in a fully humanized DRPLA model.

Molecular therapy. Nucleic acids
2026

Altered Cerebrospinal Fluid Tryptophan-Kynurenine Pathway Metabolism in Multiple System Atrophy.

Movement disorders : official journal of the Movement Disorder Society
2026

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Annals of neurology
2026

The 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 neurology
2026

Effects of Mind-body Movement Interventions for Managing Symptoms in People with Multiple Sclerosis: An Overview of Reviews.

Current neurology and neuroscience reports
2026

Telemedicine in epilepsy care: A Nationwide survey by the Italian Chapter of the International League Against Epilepsy (LICE) on adoption, barriers, and perceived value.

Epilepsia open
2026

Molecular features of human pathological tau distinguish tauopathy-associated dementias.

Cell
2026

Independent directional tuning of the human triceps surae muscles during standing postural control.

Journal of applied physiology (Bethesda, Md. : 1985)
2026

Identifying Drugs Associated With Parkinson's Disease Risk Using Machine Learning.

Basic &amp; clinical pharmacology &amp; toxicology
2025

Beta burst characteristics predict instantaneous hand movements in Parkinson's disease.

Neurobiology of disease
2026

Loss of serotonergic function in carriers of PRKN mutations: a [11C]DASB PET study.

European journal of nuclear medicine and molecular imaging
2026

Diagnostic Performance of the α-Synuclein Seed Amplification Assay for Dementia With Lewy Bodies: A Comparison Across 4 Laboratories.

Neurology
2026

Long-Term Effectiveness and Persistence Factors of Anti-CGRP Monoclonal Antibodies in Migraine: 2-Year Results From the EUREkA Cohort.

Neurology
2026

HEAD-WINd®: A nationwide cohort study of headache disorders in danish adults using survey, smartphone and registry data.

Cephalalgia : an international journal of headache
2026

Insights into the translation and adaptation of an instrument for measuring time processing abilities among individuals with visual and intellectual disabilities.

Acta psychologica
2026

BAP31 Modulates Mitochondrial Homeostasis Through PINK1/Parkin Pathway in MPTP Parkinsonism Mouse Models.

Cells
2026

Hereditary Ataxias: From Pathogenesis and Clinical Features to Neuroimaging, Fluid, and Digital Biomarkers-A Scoping Review.

International journal of molecular sciences
2026

Prevalence of Functional Constipation in Children with Down Syndrome: A Study Conducted at a General Pediatrics Service.

Biomedicines
2026

Evaluation of idiopathic olfactory dysfunction as a warning marker for early parkinson's disease: a population-based cross-sectional study.

Scientific reports
2026

Structural MRI Biomarkers of Intracranial Pressure in IIH: Linking Optic Nerve Sheath, Pituitary Morphology, and Hormonal Changes.

Clinical neuroradiology
2026

Periodic and Aperiodic Electroencephalographic Rhythms During Vigilance Transitions in Alzheimer's Disease Mild Cognitive Impairment.

Annals of the New York Academy of Sciences
2026

Determinants of Qi Gong, Tai Chi, and Yoga Use for Health Conditions: A Systematic Review Protocol.

Global advances in integrative medicine and health
2026

Natural history in hereditary spastic paraplegias: real-world data from an Austrian cohort.

Journal of neurology
2026

Lingual 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 Neuropsychopharmacology
2026

Mechanisms and therapeutic potential of migrasomes in neurological disorders.

Cellular signalling
2026

Sexual dysfunction in Parkinson's disease: what about women?

Journal of the neurological sciences
2026

Potential role of MRI to optimize clinical trial design for progressive supranuclear palsy and corticobasal degeneration.

The journal of prevention of Alzheimer's disease

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

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Comunidades

Grupos ativos de quem convive com esta doença aqui no Raras

Ainda não existe comunidade no Raras para Epilepsia generalizada - discinesia paroxística

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Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Referências e fontes

Bases de dados externas citadas neste artigo

Publicações científicas

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

  1. Clinical features of adolescent-onset functional motor disorders in tertiary movement disorders centers.
    Journal of neurology· 2026· PMID 41865339mais citado
  2. Brain Age Estimation on T2-FLAIR Scans for Application to Multiple Sclerosis.
    Human brain mapping· 2026· PMID 41853885mais citado
  3. Lowering the HTT1a transcript as an effective therapy for Huntington's disease in a knockin mouse model.
    Science translational medicine· 2026· PMID 41849583mais citado
  4. Selective targeting of mutant huntingtin intron 1 improves rescue provided by antisense oligonucleotides in Huntington's disease mice.
    Science translational medicine· 2026· PMID 41849580mais citado
  5. Effect of rhythmic auditory stimulation (RAS)&#xae; with and without melody on Parkinson's disease (PD) patients with deep brain stimulation (DBS): A study protocol.
    PloS one· 2026· PMID 41849339mais citado
  6. Compensatory and Dynamic Cerebellar Responses to Striatal Lesions in Experimental Parkinsonism.
    Cerebellum· 2026· PMID 41863732recente
  7. All-Cause and Cause-Specific Mortality in Drug-Induced Dystonia and Dyskinesia: Evidence from a Population-Based Cohort.
    Schizophr Bull· 2026· PMID 41863374recente
  8. Patent Ductus Arteriosus Persistence and Neurodevelopmental Outcomes: A Restrictive Treatment Approach Does Not Compromise Neurological Development.
    Acta Paediatr· 2026· PMID 41860109recente
  9. Transanal Irrigation in patients with Parkinson's Disease and chronic constipation: rebalancing the Gut Microbiota?
    Parkinsonism Relat Disord· 2026· PMID 41855756recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:79137(Orphanet)
  2. OMIM OMIM:609446(OMIM)
  3. MONDO:0012276(MONDO)
  4. Epilepsia(PCDT · Ministério da Saúde)
  5. GARD:16704(GARD (NIH))
  6. Variantes catalogadas(ClinVar)
  7. Busca completa no PubMed(PubMed)
  8. 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

Compêndio · Raras BR

Epilepsia generalizada - discinesia paroxística

ORPHA:79137 · MONDO:0012276
🇧🇷 Brasil SUS
Triagem
qPCR para deleção de SMN1 em sangue seco
PNTN
Fase 5
Incidência BR
1:10.000
Geral
Prevalência
Unknown
Herança
Autosomal dominant
CID-10
G40.3 · Epilepsia e síndromes epilépticas generalizadas idiopáticas
CID-11
Início
Childhood
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C1836173
Repurposing
18 candidatos
aminohydroxybutyric-acidcarbonic anhydrase inhibitor
diclofenamidesuccinimide antiepileptic
ethosuximideglutamate receptor antagonist
+15 outros
Wikidata
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