Esta é uma doença neurológica rara e genética que envolve epilepsia focal, deficiência intelectual e malformações no cérebro e cerebelo. Ela se manifesta pelo início de crises epilépticas (convulsões) logo na primeira infância, deficiência intelectual que pode variar de leve a moderada, e características relacionadas ao cerebelo, como dificuldade na fala (disartria) e falta de coordenação (ataxia). Exames de ressonância magnética (MRI) mostram atrofia do cerebelo (seu encolhimento) e espessamento do córtex cerebral (a camada externa do cérebro). As crises epilépticas são geralmente focais, ou seja, afetam uma parte específica do cérebro e se manifestam com piscar de olhos intenso, espasmos no rosto e nos membros. Elas são frequentemente desencadeadas por febre e costumam começar com uma sensação estranha na boca, como se a língua estivesse dormente (o que é chamado de aura sensorial oral). Quando as crises não são bem controladas por medicamentos antiepilépticos, elas podem ocorrer semanalmente e persistir na vida adulta.
Introdução
O que você precisa saber de cara
Esta é uma doença neurológica rara e genética que envolve epilepsia focal, deficiência intelectual e malformações no cérebro e cerebelo. Ela se manifesta pelo início de crises epilépticas (convulsões) logo na primeira infância, deficiência intelectual que pode variar de leve a moderada, e características relacionadas ao cerebelo, como dificuldade na fala (disartria) e falta de coordenação (ataxia). Exames de ressonância magnética (MRI) mostram atrofia do cerebelo (seu encolhimento) e espessamento do córtex cerebral (a camada externa do cérebro). As crises epilépticas são geralmente focais, ou seja, afetam uma parte específica do cérebro e se manifestam com piscar de olhos intenso, espasmos no rosto e nos membros. Elas são frequentemente desencadeadas por febre e costumam começar com uma sensação estranha na boca, como se a língua estivesse dormente (o que é chamado de aura sensorial oral). Quando as crises não são bem controladas por medicamentos antiepilépticos, elas podem ocorrer semanalmente e persistir na vida adulta.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Entender a doença
Do básico ao detalhe, leia no seu ritmo
Preparando trilha educativa...
Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Linha do tempo da pesquisa
Encontrou um erro ou informação desatualizada? Sugira uma correção →
Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal recessive.
May act as a GTPase-activating protein for Rab family protein(s) (PubMed:20727515, PubMed:20797691). Involved in neuronal projections development, probably through a negative modulation of ARF6 function (PubMed:20727515). Involved in the regulation of synaptic vesicle trafficking (PubMed:31257402)
Cell membraneCytoplasmCytoplasmic vesicle membranePresynapse
Familial infantile myoclonic epilepsy
A subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic-clonic seizures.
Variantes genéticas (ClinVar)
283 variantes patogênicas registradas no ClinVar.
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 focal-perturbação do desenvolvimento intelectual-malformação cérebro-cerebelosa
Centros de Referência SUS
37 centros habilitados pelo SUS para Epilepsia focal-perturbação do desenvolvimento intelectual-malformação cérebro-cerebelosa
Centros para Epilepsia focal-perturbação do desenvolvimento intelectual-malformação cérebro-cerebelosa
Detalhes dos centros
Hospital Universitário Prof. Edgard Santos (HUPES)
R. Dr. Augusto Viana, s/n - Canela, Salvador - BA, 40110-060 · CNES 0003808
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital Infantil Albert Sabin
R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital de Apoio de Brasília (HAB)
AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital Estadual Infantil e Maternidade Alzir Bernardino Alves (HIABA)
Av. Min. Salgado Filho, 918 - Soteco, Vila Velha - ES, 29106-010 · CNES 6631207
Serviço de Referência
Hospital das Clínicas da UFG
Rua 235 QD. 68 Lote Área, Nº 285, s/nº - Setor Leste Universitário, Goiânia - GO, 74605-050 · CNES 2338424
Serviço de Referência
Hospital Universitário da UFJF
R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442
Atenção Especializada
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital das Clínicas da UFMG
Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167
Serviço de Referência
Hospital Universitário Julio Müller (HUJM)
R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092
Atenção Especializada
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário João de Barros Barreto
R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878
Serviço de Referência
Hospital Universitário Lauro Wanderley (HULW)
R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470
Atenção Especializada
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)
R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Pequeno Príncipe
R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805
Serviço de Referência
Hospital Universitário Regional de Maringá (HUM)
Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108
Atenção Especializada
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital de Clínicas da UFPR
R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980
Serviço de Referência
Hospital Universitário Pedro Ernesto (HUPE-UERJ)
Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Instituto Nacional de Saúde da Mulher, da Criança e do Adolescente Fernandes Figueira (IFF/Fiocruz)
Av. Rui Barbosa, 716 - Flamengo, Rio de Janeiro - RJ, 22250-020 · CNES 2269988
Serviço de Referência
Hospital São Lucas da PUCRS
Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital de Clínicas de Porto Alegre (HCPA)
Rua Ramiro Barcelos, 2350 Bloco A - Av. Protásio Alves, 211 - Bloco B e C - Santa Cecília, Porto Alegre - RS, 90035-903 · CNES 2237601
Serviço de Referência
Hospital Universitário da UFSC (HU-UFSC)
R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital das Clínicas da FMUSP
R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485
Serviço de Referência
Hospital de Base de São José do Rio Preto
Av. Brg. Faria Lima, 5544 - Vila Sao Jose, São José do Rio Preto - SP, 15090-000 · CNES 2079798
Atenção Especializada
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas da UNICAMP
R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
Hospital de Clínicas de Ribeirão Preto (HCRP-USP)
R. Ten. Catão Roxo, 3900 - Vila Monte Alegre, Ribeirão Preto - SP, 14015-010 · CNES 2082187
Serviço de Referência
UNIFESP / Hospital São Paulo
R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689
Serviço de Referência
Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Insights on Acute and Chronic Lacquer Cracks as Imaged with Visible Light OCT.
Este estudo utilizou uma nova tecnologia de imagem, a OCT de luz visível de alta resolução, para investigar a miopia patológica, focando nas fissuras de laca agudas e crônicas. A tecnologia permitiu medir o oxigênio em hemorragias submaculares associadas a fissuras agudas e detalhar as alterações estruturais na membrana de Bruch, no epitélio pigmentar da retina e nos fotorreceptores em fissuras crônicas. Para pacientes e médicos, isso significa uma capacidade aprimorada de compreender, diagnosticar e monitorar as lesões, oferecendo novas perspectivas sobre a atividade da doença e o dano tecidual na miopia patológica.
🇧🇷 traduzidoAllele-specific effects of distinct SLC26A4 variants on cochlear function and transcriptomic programs in compound heterozygous models.
**Observação:** O artigo fornecido descreve um estudo sobre **perda auditiva hereditária** causada por mutações no gene SLC26A4, e não sobre epilepsia, como sugere o título que você mencionou inicialmente ("Focal epilepsy-intellectual disability-cerebro-cerebellar malformation"). **Resumo (2 frases):** Este estudo demonstrou que diferentes tipos de mutações no gene SLC26A4, uma causa comum de perda auditiva hereditária, levam a variados graus de deficiência auditiva e danos cocleares, mesmo quando um paciente possui outra mutação em comum. Essa divergência funcional explica a ampla variabilidade clínica da surdez hereditária e sugere que futuras intervenções terapêuticas podem precisar ser específicas para o tipo de mutação, abrindo caminho para abordagens mais personalizadas e eficazes para pacientes.
🇧🇷 traduzidoAttention-enhanced segmentation network for automated cerebral microbleed detection and burden assessment.
Este artigo descreve o desenvolvimento de uma nova inteligência artificial (IA), a RLK-UNet com CBAM, que aprimora significativamente a detecção automática de micro-hemorragias cerebrais (CMBs) em exames de ressonância magnética, que são marcadores importantes para risco de AVC e monitoramento de terapias anti-amiloide. A IA se destaca por sua capacidade de diferenciar CMBs verdadeiras de estruturas cerebrais semelhantes e artefatos, resultando em alta precisão e uma redução drástica de falsos positivos sem comprometer a sensibilidade. Para pacientes e médicos, isso significa uma ferramenta mais robusta e confiável para avaliar o risco vascular, estimar a carga de CMBs e monitorar pacientes em tratamento, facilitando diagnósticos mais precisos e decisões clínicas mais seguras.
🇧🇷 traduzidoFollicle-dependent differential localization of adipokines in the letrozole-induced hyperandrogenized mouse ovary.
Em um estudo com camundongos que simulam a Síndrome dos Ovários Policísticos (SOP) e hiperandrogenismo, observou-se que hormônios produzidos pelo tecido adiposo (adipocinas) apresentam padrões de expressão e localização alterados nos ovários. Essa desregulação de adipocinas como leptina, adiponectina e apelina, essenciais para o desenvolvimento folicular e a produção hormonal, contribui para a formação de cistos e a interrupção da maturação dos óvulos, características da SOP. Entender essas alterações ajuda médicos e pacientes a compreenderem melhor a complexa interação entre o metabolismo e a função ovariana na SOP, destacando como o desequilíbrio hormonal e metabólico afeta a saúde reprodutiva.
🇧🇷 traduzidoCorpus Callosotomy or Focal Surgery in Children Presenting With Generalized Tonic Seizures: Findings From the Pediatric Epilepsy Research Consortium.
Este estudo comparou a cirurgia focal (CF) e a calosotomia do corpo caloso (CC) em crianças com crises tônicas generalizadas, mostrando que a CF, em casos com foco detectável, alcançou uma taxa significativamente maior de liberdade de crises (80%) comparada à CC (19%). Pacientes submetidos à CC eram mais velhos, com maior atraso no desenvolvimento e menor resposta a medicamentos, e os resultados indicam que atrasos na realização da CC são injustificados, sugerindo que a intervenção precoce é importante mesmo em casos sem foco claro.
🇧🇷 traduzidoPublicações recentes
Combined toxicity of triclocarban and bisphenol S in zebrafish: Multi-level synergistic effects and driving mechanisms.
Novel genomic risk stratification model for primary high-grade malignant peripheral nerve sheath tumor (MPNST).
Characterizing breach rhythm in EEG: Insights into its variability and clinical impact.
Attention-enhanced segmentation network for automated cerebral microbleed detection and burden assessment.
CAPZA1 deficiency disrupts sperm flagellar structure and motility, potentially involving the p300/SLC7A11 pathway.
📚 EuropePMCmostrando 200
The interaction between NPMc+ and Orai1 induces abnormal calcium influx to facilitate leukemogenesis.
The FEBS journalTUBB2A related epilepsy: novel variants and genotype-phenotype correlation.
Scientific reportsA hybrid pipeline for carotid artery segmentation using YOLOv11n and contour models.
Scientific reportsInsights on Acute and Chronic Lacquer Cracks as Imaged with Visible Light OCT.
Ophthalmology scienceArterial thoracic outlet syndrome due to a first-rib anomaly causing brachial artery embolic occlusion: a case report.
Radiology case reportsEarly Binding of Anti-Amyloid Antibodies to CAA Drives Complement Activation, Inflammation and ARIA in Mice.
bioRxiv : the preprint server for biologyMolecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.
Molecular visionTENT-5 polyadenylates and regulates male-specific transcripts in Caenorhabditis elegans.
G3 (Bethesda, Md.)Allele-specific effects of distinct SLC26A4 variants on cochlear function and transcriptomic programs in compound heterozygous models.
Bioscience trendsTargeting OXCT1 with the methyl donor S-adenosylmethionine as a therapeutic strategy for cerebral cavernous malformations.
International journal of biological macromoleculesCombined toxicity of triclocarban and bisphenol S in zebrafish: Multi-level synergistic effects and driving mechanisms.
Journal of hazardous materialsNovel genomic risk stratification model for primary high-grade malignant peripheral nerve sheath tumor (MPNST).
The Journal of pathologyCharacterizing breach rhythm in EEG: Insights into its variability and clinical impact.
Neurophysiologie clinique = Clinical neurophysiologyAttention-enhanced segmentation network for automated cerebral microbleed detection and burden assessment.
Frontiers in neuroscienceCAPZA1 deficiency disrupts sperm flagellar structure and motility, potentially involving the p300/SLC7A11 pathway.
Frontiers in endocrinologyWhen BAL meets CT scan: enhancing noninvasive diagnosis of acute cellular rejection after lung transplantation.
BMC pulmonary medicineFollicle-dependent differential localization of adipokines in the letrozole-induced hyperandrogenized mouse ovary.
Histochemistry and cell biologyBeyond the tear: the enduring role of aortic pathology in the era of genomic medicine.
Open heartReal world experience of direct oral anticoagulant (DOAC) use in Australian children.
Thrombosis researchCorpus Callosotomy or Focal Surgery in Children Presenting With Generalized Tonic Seizures: Findings From the Pediatric Epilepsy Research Consortium.
Pediatric neurologyLaparoscopic Mitrofanoff procedure in children: Feasibility and outcome analysis over 18 years in a single centre.
Journal of pediatric urologyRobotic-integrated intraoperative ultrasound for excision of accessory cavitated uterine malformation (ACUM): an innovative surgical technique.
Archives of gynecology and obstetricsPrevalence of Epilepsy in Children With Autism Spectrum Disorder Referred to the Autism Clinic in a Tertiary Care Hospital in Bangladesh.
CureusEEG Signatures of COVID-19 Survival compared to close contacts and the Cuban EEG normative database.
Clinical neurophysiology practiceHbs and Rst adhesion molecules provide a regional code that regulates cell elimination during epithelial remodeling.
iSciencePrefrontal dysregulation of interoceptive and emotional processing in episodic migraine: a task-based fMRI study.
The journal of headache and painMild SARS-CoV-2 maternal infection in mice induces transient offspring neurodevelopmental aberrance.
Proceedings of the National Academy of Sciences of the United States of AmericaEffect of rhythmic auditory stimulation (RAS)® with and without melody on Parkinson's disease (PD) patients with deep brain stimulation (DBS): A study protocol.
PloS oneShort-term blockade of E-prostanoid 3 receptor mitigates necroinflammation and ameliorates ischemia/reperfusion- and doxorubicin-induced acute myocardial injury.
Basic research in cardiologyTranscriptomic insights into fruiting body malformations in Lentinula edodes.
Applied microbiology and biotechnologyExtradural foramen magnum decompression with multiple superficial dural incisions for Chiari I malformation: a multicenter series of 91 pediatric patients.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryInhibition of MAFB and PI3K/AKT Signaling for Hereditary FSGS with Multicentric Carpotarsal Osteolysis.
Journal of the American Society of Nephrology : JASNA Novel MID1 Mutation Identified in a Patient With Craniofacial Anomalies and X-Linked Intellectual Disability.
The Journal of craniofacial surgery[Enamel pearl with severe consequences for the tooth and periodontium].
Swiss dental journalDiagnosis of a patient with pulmonary and skeletal cryptococcosis: A case report and literature review.
The Journal of international medical researchSynthesis, characterisation, computational study, amelioration of ruthenium kesar nanoparticle, antioxidant and glycolytic enzyme activity alterations in cirrhotic liver extract.
Scientific reportsUnveiling glomerulonephritis in the Pacific: a Fijian cohort study.
Journal of nephrologyNewly diagnosed B-cell acute lymphoblastic leukemia demonstrating localized bone marrow infiltration exclusively in the lower extremities.
Open medicine (Warsaw, Poland)Ocular motor and vestibular examination in the unconscious patient-standard of care.
Frontiers in neurology[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 editionPediatric anti-NMDAR encephalitis: Neuroradiological presentation, cognitive outcome and volumetric MRI analysis.
NeuroImage. ClinicalNew insights into enlarged parietal foramina: an anatomical, radiological, and histological study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAntenatal Maternal Smoking and Lung Function in Very Prematurely Born Children.
Pediatric pulmonologyArterial spin labeling performs comparably to 2-[18F]fluoro-2-deoxy-D-glucose positron emission tomography for presurgical evaluation in pediatric lesional epilepsy.
EpilepsiaInterictal and seizure-onset scalp electroencephalographic patterns in malformations of cortical development.
EpilepsiaGenomic and Functional Analysis of the ALOG Gene Family in Dioscorea alata.
Plants (Basel, Switzerland)Clinical Presentation and Diagnostic Challenges of Congenital Thoracoabdominal Wall Defects in Dogs: Insights from a Case Series and Literature Synthesis.
Animals : an open access journal from MDPISplenic Macrophage Activation and Disordered Heme-Iron Metabolism in a Mouse Model of Acute Hepatic Encephalopathy.
International journal of molecular sciencesMolecular Pathways and Circulating Biomarkers in Cerebral Cavernous Malformations-A Systematic Review.
International journal of molecular sciencesA Novel Rapid 3D Tissue-Clearing and Staining Approach for Enteric Neurovascular Imaging and Pathology Applications.
Diagnostics (Basel, Switzerland)Endometriosis-Related Impairment in Assisted Reproductive Technologies: Inflammatory Profiles, Oocyte Competence, and Embryo Development.
Journal of clinical medicineFocal seizures during simulated driving: A pilot study.
EpilepsiaEpilepsy in pediatric patients with PTEN hamartoma tumor syndrome: First step in recommendations for clinical management.
European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology SocietyRelapse of adult B-cell acute lymphoblastic leukemia in the bilateral lacrimal glands: A case report and literature review.
MedicineMRI-morphometric characterization of Chiari malformation types 0 and 1 with syringomyelia: implications for diagnosis and pathogenesis.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical NeurophysiologyLow Frequency Stimulation and Seizure Induction in Pediatric and Young Adult Patients With Drug Resistant Epilepsy Undergoing Stereoelectroencephalography.
Journal of clinical neurophysiology : official publication of the American Electroencephalographic SocietyValidated semi-supervised early and accurate screening for anterior segment diseases: a 3PM-guided conceptual and technological innovation.
The EPMA journalEfficacy and safety of Dysmenorrhea Patch acupoint application in women with primary dysmenorrhea: a randomized double-blind controlled trial.
Frontiers in endocrinologyClassification of neurocognitive impairment in pediatric drug-resistant focal epilepsy by quantifying seizure-affected brain network abnormalities in clinical diffusion-weighted imaging connectome.
Clinical and experimental pediatricsBedaquiline-related QTc Prolongation in Multidrug Resistant Tuberculosis Patients: A Prospective Study.
The Journal of the Association of Physicians of IndiaA numerical study on the effect of laser therapy against port-wine stain by administering artificial red blood cells.
Lasers in medical scienceExpanding the phenotypic spectrum of neurodevelopmental disorder with seizures and gingival overgrowth: a case caused by a novel TBC1D2B variant, with hypertrichosis, white matter abnormalities, and progressive neurological decline.
Clinical dysmorphologyIoT-based Stomach abnormality detection via hybrid MDCNN-Bi-LSTM architecture with statistical and texture features.
Informatics for health & social careSeizures as the initial manifestation: characterizing the adult phenotype of MOG antibody-associated disease.
Frontiers in neurologyInfectious Thyroiditis in Children: A Challenging Diagnosis and Management.
CureusParoxysmal Nocturnal Hemoglobinuria as a Rare Cause of Chronic Asymptomatic Hemolysis: A Case Report.
CureusIncidental findings of ipsilateral agenesis of the ovary and fallopian tube during cesarean section delivery successfully managed in a resource-limited setting: a case report.
International journal of surgery case reportsSpinal epidural arteriovenous malformations: clinical, imaging, and angioarchitectural characteristics with endovascular treatment outcomes-a single-centre experience.
Clinical radiologyEchocardiographic Strain Analysis Compared With Assessment of Fibrosis by Cardiac Magnetic Resonance in the Evaluation of Chagas Cardiomyopathy.
Echocardiography (Mount Kisco, N.Y.)Network Disconnection Syndrome in Unruptured Brain Arteriovenous Malformations: A Multimodal Connectome Study.
CNS neuroscience & therapeuticsHomozygous Myo7A mutation associations teratozoospermia and intracytoplasmic sperm injection failure in humans and mice.
Translational andrology and urologyClonal analysis of a case with fluid overload-associated large B-cell lymphoma evolving from primary large B-cell lymphoma of the central nervous system.
Annals of hematologyMicrocephaly with Simplified Gyral Pattern in Children: Quantitative Morphometric Assessment on Brain MRI and Correlation with Clinical Outcome.
AJNR. American journal of neuroradiologyAtypical Tactile Expressions Using Japanese Ideophones in Adults With Autism Spectrum Disorders.
Journal of autism and developmental disorders[Diagnosis and treatment of post-traumatic arteriovenous fistulas of the upper and lower extremities].
Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgery[Sclerotherapy in treatment of venous malformations in the maxillofacial region in children].
Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgeryEpilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.
Nature communicationsScrotal uptake on PSMA PET in prostate cancer: differentiating metastases from benign and physiologic findings using ultrasound correlation.
Abdominal radiology (New York)Ischemic Stroke in a 28-Year-Old Young Adult Associated With Chronic Triptan and Non-Steroidal Anti-Inflammatory Drug (NSAID) Use.
CureusMacrocystic Lymphangioma of the Chest Wall: A Rare Localization.
CureusLikelihood and Predictors of Acute Findings on CTA Head and Neck for Neurologic Presentations to the Emergency Department.
Neurology. Clinical practicePrevalence of Capitellar Osteochondral Abnormalities in Healthy Youth Gymnasts: An Ultrasound Study.
Orthopaedic journal of sports medicinePimicotinib versus placebo for tenosynovial giant cell tumour (MANEUVER): an international, randomised, placebo-controlled, phase 3 trial.
Lancet (London, England)Transesophageal echocardiography (TEE)-guided management of post-myocardial infarction complications.
The international journal of cardiovascular imagingClinical course and patient-reported outcomes in conservatively managed spinal cavernous malformations.
Journal of neurologyA Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.
Experimental dermatologyKidney pathology findings in pediatric patients with kidney injury and inflammatory bowel disease: a case series.
Pediatric nephrology (Berlin, Germany)The Heavy Toll of Lifeline: An Analysis of the Multidimensional Experience and Interaction Mechanisms of Establishing Arteriovenous Fistula in Patients Receiving Haemodialysis.
Journal of renal careEpilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.
Epileptic disorders : international epilepsy journal with videotapeBronchoscopy-guided bronchial artery embolization: a case report.
Journal of medical case reportsFinnish-Enriched SLC26A7 Variant in Congenital Hypothyroidism: Clinical Spectrum, Thyroid Histopathology, and Expression Analysis.
Thyroid : official journal of the American Thyroid AssociationPersimmon-induced excessive anticoagulation in a patient with mechanical heart valves receiving warfarin therapy: A case report.
MedicineArrhythmogenic left ventricular cardiomyopathy managed with CRT-D: A case report.
MedicineMicrostructure imaging in patients undergoing evaluation for epilepsy surgery or low-grade glioma: Clinical utility of a novel diffusion MRI method.
Epilepsia openOne-stop evaluation using [68Ga]Ga-Pentixafor PET integrated with contrast-enhanced CT for visualization and localization of adrenal nodules in patients with primary aldosteronism.
Japanese journal of radiologyDiagnostic yield of chromosomal microarray and virtual targeted gene panel analysis in adults with focal epilepsy: implications for sequential genetic testing strategy.
SeizureCo-exposure to arsenic and nickel induces oxidative stress and mineral imbalance, impairing male reproductive parameters in Wistar rats.
Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicineVein of Galen Malformation with Pial Arteriovenous Fistula in a 12-month-old Child.
Asian journal of neurosurgerynphp4 deficiency disrupts testicular homeostasis and impairs male fertility in medaka (Oryzias latipes).
Reproduction (Cambridge, England)Surgical excision of giant axillary cystic lymphangioma: a case report.
Journal of medical case reportsCombined ultrasound localization and bronchoscopic-guided percutaneous dilatational tracheostomy in a child with pharyngolaryngeal venous malformation: a case report.
BMC anesthesiologyDisentangling the relationship between psychiatric disorders, cardiometabolic abnormalities, and antipsychotics: A systematic review of genomic studies.
Schizophrenia researchmiRNome profiling in Tritia mutabilis embryos exposed to tributyltin: insights into developmental toxicity.
Marine pollution bulletinReduced alpha-band phase coherence and cortical complexity in fibromyalgia: A tms-eeg exploratory study.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyDifferential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.
Annals of the New York Academy of SciencesLeaking Encephaloceles-Strategies in Management Based on 27 Patients.
The Journal of craniofacial surgeryMethicillin Resistant Staphylococcus Aureus Colonization, The Tip of the Iceberg for Congenital Pulmonary Airway Malformation. A Case Report.
La Clinica terapeuticaBeyond motor impairment: investigating cognitive aspects of hereditary spastic paraplegia in a Greek case series.
NeurocaseDemyelinating Leprosy Neuropathy: An Unusual and Misleading Electrophysiological Pattern.
Muscle & nerveA rare diffuse follicular lymphoma with TP53 mutation and copy-neutral loss of heterozygosity at 1p36: insights into diagnosis, disease progression, and literature review.
Journal of hematopathologyTwo Cases of Physical Therapy Focusing on the Meniscotibial Ligament and Its Associated Fat Pad for Medial Knee Pain in Knee Osteoarthritis.
CureusComplexities of Occult and Obscure Gastrointestinal Bleeding: A Case Report.
Cureus[Tibial aplasia. Treatment by tibialization of the fibula and compensation for shortening by holding the foot in equinus position in Bangui, Central African Republic].
Medecine tropicale et sante internationaleLong term speech outcome post cleft palate repair in Kenya: Literature review.
JPRAS openPostsurgical Seizure Outcome for Epilepsy Patients According to Histopathological Diagnosis: A Single-Center Experience.
Neuropsychiatric disease and treatmentRecent advances in the detection technologies for balanced chromosomal rearrangements.
Frontiers in geneticsRNA-seq analysis reveals altered gene expression profiles in HMEC-1 cells overexpressing KRAS gene associated with brain arteriovenous malformation.
Chinese neurosurgical journalInvolvement of serotonin receptor 7 in synaptic dysfunctions in a mouse model of autism spectrum disorder.
European journal of pharmacologyElevated gamma spectral event peak power during auditory chirp is associated with neuropsychiatric features in Fragile X syndrome.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologySafety and effectiveness of first-line endovascular management of brain micro- arteriovenous malformations: a single center experience in 34 patients.
Journal of neuroradiology = Journal de neuroradiologieFuture gender in pediatric transgender and DSD/intersex consultations: a conversation analysis.
Social science & medicine (1982)Systematic review of terminology, definitions, and eligibility criteria in trials of neonatal encephalopathy, hypoxic-ischemic encephalopathy, and perinatal asphyxia.
Pediatric researchTime-Driven Activity-Based Costing of Sclerotherapy for the Treatment of Venous Malformations at a National Referral Hospital in Tanzania.
Journal of vascular and interventional radiology : JVIRTAZ (Wwtr1) deficiency leads to ER stress and mitochondrial dysfunction in a mouse model of Fuchs' endothelial corneal dystrophy.
bioRxiv : the preprint server for biologyRegulation of spontaneous neurotransmission and homeostatic synaptic plasticity by synaptotagmin-1 disease variants at the SNARE primary interface.
bioRxiv : the preprint server for biologyPersistent Unilateral Nerve Paresthesia Following Suspected Viral Infection.
Case reports in dentistryEvaluating the real-world safety of cholestyramine for the treatment of hyperlipidemia: disproportionality analysis of FAERS data.
Frontiers in medicine[When kidney disease is genetic: clues for the primary care physician].
Revue medicale suisseAcquired Uterine Arteriovenous Fistulas After First-Trimester Pregnancy Loss: A Narrative Review with Case-Based Insights into Minimally Invasive Management.
Medicina (Kaunas, Lithuania)Preliminary Toxicological Evaluation of Spherical Nanoparticles Containing an Imidazole Derivative (BzIm-DEA) Using the CAM Chicken Model.
International journal of molecular sciencesNonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.
International journal of molecular sciencesReassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation.
GenesAn Improved Microaneurysms Detection for Diabetic Retinopathy Screening Using YOLO.
BiomedicinesMitochondria-Associated MicroRNAs: Emerging Roles in the Pathogenesis of Parkinson's Disease.
BiomedicinesAbnormalities on Spinal Magnetic Resonance Imaging in Children and Adolescents: A Two-Center Retrospective Cohort Study.
Children (Basel, Switzerland)Disrupted STIL-BRCA1 axis causes centrosome amplification and genomic instability.
FEBS lettersAssociation of Cardiovascular-Kidney-Syndrome and Brain Macrostructure and Microstructure Injury: A Prospective Cohort Study.
Diabetes, obesity & metabolismSplicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.
JCI insightSpontaneous Coronary Artery Dissection: Sex Differences in Clinical Presentation and Outcomes From the Australian New Zealand Registry.
Journal of the American Heart AssociationFog/Edge-Aware State Space Models for Multi-Task Chest X-ray Report Generation and Lesion Detection.
IEEE journal of biomedical and health informaticsOptical coherence tomography-derived coronary vessel wall abnormalities in adults long after Kawasaki disease.
PloS oneLong-term follow-up of linear scleroderma en coup de sabre in children with central nervous system involvement.
Frontiers in immunologyOral Necrotizing Ulcerations in Acute Leukemia Patients: Clinical Characteristics, Integrated Management, and Favorable Outcomes - A Case Series.
International medical case reports journalAn Attempt of a Staining Method to Clarify the Localization of Hematomas in Autopsy Cases of Intracerebral Hemorrhage: Application of Double Staining With Immunohistochemistry for Anti-Synaptophysin Antibody Using DAB-CoCl2 and EA50.
Neuropathology : official journal of the Japanese Society of NeuropathologyA Case of Prostatic Mixed Germ Cell Tumor Showing Pagetoid Spread Into the Vas Deference in a Patient With Klinefelter Syndrome.
Pathology internationalSyndrome attractors: providing a system dynamics view of disease from the integrative medicine perspective.
Journal of integrative medicineCardiac conduction system malformations in heterotaxy result from dysregulated Pitx2 expression.
JCI insightEffectiveness of Baricitinib on Nail Alopecia Areata: A 48-Week Single-Center Retrospective Study.
Clinical drug investigationAssociation Between Renal Dysfunction and Cerebral Small Vessel Disease: A Prospective Cohort Study From the UK Biobank.
CNS neuroscience & therapeuticsImmune-Mediated Transverse Myelitis in a Filipino Patient With Prior Hematopoietic Stem Cell Transplantation: A Case Report.
CureusNOTCH2NLC GGC repeat expansions cause retinal neurodegeneration in neuronal intranuclear inclusion disease mouse model.
Cell & bioscienceQuantitative evaluation of the topographical maps of three-dimensional choroidal vascularity index in gestational diabetes mellitus: a cross-sectional observational study.
BMC pregnancy and childbirthRediscovering the physical exam: lingual thyroid in juvenile hypothyroidism- a case report.
BMC pediatricsDiagnostic Utility of Arterial Spin Labeling MRI in Straight to MRI Code Stroke Patients for Seizure Detection: A Comparison with FLAIR, DWI and EEG.
AJNR. American journal of neuroradiologyClinical Characteristics, Surgical Outcomes, and Recurrence Factors of Cerebrospinal Fluid Otorrhea Associated With Inner Ear Malformations: A Retrospective Cohort Study.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyNeutrophil extracellular traps in gynecological disease: pathogenic mechanisms and therapeutic opportunities.
Frontiers in medicineUnmasking Wilson's Disease Through Severe Psychiatric Manifestations: A Case Report.
CureusSeizure phenotypes and short-term prognosis in neonatal lupus: a multicenter retrospective cohort in China.
Frontiers in immunologySevere diffused glans penis venous malformation: successful management with 'fractional' Long-pulsed Nd: YAG laser therapy.
The Journal of dermatological treatmentPretibial epidermolysis bullosa: compound heterozygous variants in a rare dystrophic epidermolysis bullosa subtype.
Dermatology online journalNovel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.
Molecular genetics & genomic medicineSleep-like slow waves in ADHD: Regional specificity in combined type.
International journal of psychophysiology : official journal of the International Organization of PsychophysiologyQuantitative characterization of uterine peristalsis propagation throughout the menstrual cycle using a novel intracavitary electrohysterography method.
Reproductive biomedicine onlineFamilial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.
BMJ case reportsBi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.
American journal of human geneticsPreliminary evaluation of ferrous sulphate toxicity on larvae of the sea urchin Paracentrotus lividus: implications for ocean iron fertilization.
Marine pollution bulletinMisconnected: Valve Failure from an Unexpected Chordal Insertion.
Portuguese journal of cardiac thoracic and vascular surgeryModified Pectus Up and the Portuguese Case Series.
Portuguese journal of cardiac thoracic and vascular surgerySectoral and Layer-Specific Corneal Thinning in Thyroid Eye Disease: A Cross-Sectional Study.
Translational vision science & technologyChildhood chronic stress associated with abnormal brain white matter networks in first-episode, drug-naïve MDD adolescents: a machine learning study.
Frontiers in psychiatryA deep Siamese network framework for precision phage selection in pulmonary infections.
Frontiers in medicineCase Report: Prenatal imaging and genetic integrated diagnosis of SCN2A encephalopathy-a case of cryptical cortical dysplasia caused by a loss-of-function frameshift genetic variant.
Frontiers in neuroscienceAdvanced kidney mass segmentation using VHUCS-Net with protuberance detection network.
Frontiers in artificial intelligenceAn Automated Hybrid Deep Learning-based Model for Breast Cancer Detection using Mammographic Images.
Current medical imagingFunctional Roles of Non-Coding RNAs in Graves' Disease.
Current molecular medicineChromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions.
Acta neuropathologica communicationsThe adverse effects of persistent wound stress on patients with type 2 diabetes. Part 1: Pathophysiological mechanisms and multi-organ impacts.
Burns : journal of the International Society for Burn InjuriesPeculiar Phenotype of Linear Prepubertal Hidradenitis Suppurativa Associated With Trisomy 13: Report of Two Clinical Cases.
Pediatric dermatologyDeep Learning Automated Measurement of Shunt Severity with Estimation of Uncertainty in 4D Flow MRI.
Radiology. Cardiothoracic imagingNeuronal injury and hepatotoxicity: astrocytes and stellate cells convergence and their role in tissue repair.
Frontiers in neuroscienceSupramolecular delivery of senolytics enables targeted anti-senescence therapy and accelerated fracture healing.
Journal of nanobiotechnologyKRAS-dependent glycolytic reprogramming of endothelial cells in sporadic arteriovenous malformations.
EMBO molecular medicineGuizhi Gancao Decoction protects against doxorubicin-induced cardiotoxicity by intervening in microtubule acetylation.
Journal of ethnopharmacologyIncidence of Bleomycin-Induced Hyperpigmentation in Patients Undergoing Sclerotherapy for Low-Flow Vascular Malformations.
Journal of vascular and interventional radiology : JVIRFunctional network organization is locally atypical in children, adolescents, and young adults with congenital heart disease.
NeuroImage. ClinicalAAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy.
Science translational medicineBenefits of Bilateral Bone Conduction Device Use Including Osia Devices in Children and Adolescents With Bilateral Atresia.
Trends in hearingSNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cells.
Brain : a journal of neurologyEndoscopic resection in treatment of intramural esophageal cysts: Retrospective analysis of 67 cases.
Endoscopy international openDistinct neurobiological alterations during hedonic experience of rewards in attention deficit hyperactivity disorder and autism spectrum disorder: Multimodal evidence from neuroimaging meta-analyses.
Molecular psychiatryWho is getting on the bus? Post implementation survey analysis of a radiographer comment and alert model of care for emergency departments.
Journal of medical imaging and radiation sciencesInner Retinal Reflectivity Loss and Concurrent Thickening Predict Short-Term Conversion to Neovascular AMD.
Investigative ophthalmology & visual scienceSurgical management of a traumatic calcaneal fracture in a kitten using three-dimensional CT imaging.
JFMS open reportsGitelman Syndrome With Two Variants of Uncertain Significance: A Case Report.
CureusSurvival outcomes and risk factors for ventriculo-peritoneal shunt failure in pediatric hydrocephalus: a multi-center cohort study in Vietnam.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryEarly Detection of Neuroblastoma Recurrence on 18F mFBG PET.
Clinical nuclear medicineThe Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.
Annals of neurologyMutant KRAS in brain endothelial cells promotes vascular inflammation and impairs vascular integrity in brain arteriovenous malformation.
Journal of cerebral blood flow and metabolism : official journal of the International Society of Cerebral Blood Flow and MetabolismBody surface potential mapping of ventricular depolarization and repolarization in phospholamban and plakophilin-2 cardiomyopathy.
Heart rhythm O2Association Between the Triglyceride-Glucose Index and Acute Myocardial Infarction: A Retrospective Case-Control Study.
CureusAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
Ainda não temos associações cadastradas para Epilepsia focal-perturbação do desenvolvimento intelectual-malformação cérebro-cerebelosa.
É de uma associação que acompanha esta doença? Fale com a gente →
Comunidades
Grupos ativos de quem convive com esta doença aqui no Raras
Ainda não existe comunidade no Raras para Epilepsia focal-perturbação do desenvolvimento intelectual-malformação cérebro-cerebelosa
Pacientes, familiares e cuidadores se organizam em comunidades pra compartilhar experiências, fazer perguntas e se apoiar. Você pode ser o primeiro.
Tire suas dúvidas
Perguntas, dicas e experiências compartilhadas aqui na página
Participe da discussão
Faça login para postar dúvidas, compartilhar experiências e interagir com especialistas.
Fazer loginDoenças relacionadas
Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico
Ainda não achamos doenças com sintomas parecidos o suficiente.
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.
- Insights on Acute and Chronic Lacquer Cracks as Imaged with Visible Light OCT.
- Allele-specific effects of distinct SLC26A4 variants on cochlear function and transcriptomic programs in compound heterozygous models.
- Attention-enhanced segmentation network for automated cerebral microbleed detection and burden assessment.
- Follicle-dependent differential localization of adipokines in the letrozole-induced hyperandrogenized mouse ovary.
- Corpus Callosotomy or Focal Surgery in Children Presenting With Generalized Tonic Seizures: Findings From the Pediatric Epilepsy Research Consortium.
- Combined toxicity of triclocarban and bisphenol S in zebrafish: Multi-level synergistic effects and driving mechanisms.
- Novel genomic risk stratification model for primary high-grade malignant peripheral nerve sheath tumor (MPNST).
- Characterizing breach rhythm in EEG: Insights into its variability and clinical impact.
- CAPZA1 deficiency disrupts sperm flagellar structure and motility, potentially involving the p300/SLC7A11 pathway.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:352587(Orphanet)
- MONDO:0018125(MONDO)
- Epilepsia(PCDT · Ministério da Saúde)
- GARD:21522(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Q55787754(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