Raras
Buscar doenças, sintomas, genes...
Epilepsia focal-perturbação do desenvolvimento intelectual-malformação cérebro-cerebelosa
ORPHA:352587CID-10 · Q04.8PCDT · SUSDOENÇA RARA

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.

Mantido por Agente Raras·Colaborar como especialista →

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

CLASSIFICAÇÃO ORPHANET · BRASIL 2024
<1 / 1 000 000
Ultra-rara
<1/50k
Muito rara
1/20k
Rara
1/10k
Pouco freq.
1/5k
Incomum
1/2k
Prevalência
0.0
Worldwide
Casos conhecidos
7
pacientes catalogados
Início
Infancy
🏥
SUS: Cobertura parcialScore: 65%
PCDT disponívelCentros em: PA, PE, BA, CE, PB +10CID-10: Q04.8
🇧🇷Dados SUS / DATASUS
PROCEDIMENTOS SIGTAP (5)
0202010503
Cariótipo — bandas G, Q ou Rgenetic_test
0202010600
Pesquisa de microdeleções/microduplicações por FISHlab_test
0202010694
Sequenciamento completo do exoma (WES)rehabilitation
0202010260
Dosagem de alfa-fetoproteína
0301070040
Atendimento em reabilitação — doenças raras
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

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

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1
Últimos 10 anos200publicações
Pico2026192 papers
Linha do tempo
2025Hoje · 2026
Publicações por ano (últimos 10 anos)

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.

TBC1D24TBC1 domain family member 24Disease-causing germline mutation(s) inTolerante
FUNÇÃO

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)

LOCALIZAÇÃO

Cell membraneCytoplasmCytoplasmic vesicle membranePresynapse

VIAS BIOLÓGICAS (1)
TBC/RABGAPs
MECANISMO DE DOENÇA

Familial infantile myoclonic epilepsy

A subtype of idiopathic epilepsy starting in early infancy and manifesting as myoclonic seizures, febrile convulsions, and tonic-clonic seizures.

VIAS REACTOME (1)
EXPRESSÃO TECIDUAL(Ubíquo)
Cerebelo
27.8 TPM
Cérebro - Hemisfério cerebelar
26.6 TPM
Brain Frontal Cortex BA9
11.4 TPM
Córtex cerebral
11.2 TPM
Pituitária
9.4 TPM
INTERAÇÕES PROTEICAS (2)
OUTRAS DOENÇAS (11)
familial infantile myoclonic epilepsyrolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndromeautosomal dominant nonsyndromic hearing loss 65autosomal recessive nonsyndromic hearing loss 86
HGNC:29203UniProt:Q9ULP9

Variantes genéticas (ClinVar)

283 variantes patogênicas registradas no ClinVar.

🧬 TBC1D24: NM_001199107.2(TBC1D24):c.1526-1G>C ()
🧬 TBC1D24: NM_001199107.2(TBC1D24):c.400del (p.Leu134fs) ()
🧬 TBC1D24: NM_001199107.2(TBC1D24):c.1198C>T (p.Gln400Ter) ()
🧬 TBC1D24: NM_001199107.2(TBC1D24):c.937C>T (p.Gln313Ter) ()
🧬 TBC1D24: NM_001199107.2(TBC1D24):c.646C>T (p.Leu216=) ()
Ver todas no ClinVar

Vias biológicas (Reactome)

1 via biológica associada aos genes desta condição.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Carregando informações de tratamento...

Onde tratar no SUS

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

🇧🇷 Atendimento SUS — 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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Infantil Albert Sabin

R. Tertuliano Sales, 544 - Vila União, Fortaleza - CE, 60410-794 · CNES 2407876

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Apoio de Brasília (HAB)

AENW 3 Lote A Setor Noroeste - Plano Piloto, Brasília - DF, 70684-831 · CNES 0010456

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital Universitário da UFJF

R. Catulo Breviglieri, Bairro - s/n - Santa Catarina, Juiz de Fora - MG, 36036-110 · CNES 2297442

Atenção Especializada

Rota
Anomalias Congênitas

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da UFMG

Av. Prof. Alfredo Balena, 110 - Santa Efigênia, Belo Horizonte - MG, 30130-100 · CNES 2280167

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Julio Müller (HUJM)

R. Luis Philippe Pereira Leite, s/n - Alvorada, Cuiabá - MT, 78048-902 · CNES 2726092

Atenção Especializada

Rota
Anomalias Congênitas

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário João de Barros Barreto

R. dos Mundurucus, 4487 - Guamá, Belém - PA, 66073-000 · CNES 2337878

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Lauro Wanderley (HULW)

R. Tabeliao Estanislau Eloy, 585 - Castelo Branco, João Pessoa - PB, 58050-585 · CNES 0002470

Atenção Especializada

Rota
Anomalias Congênitas

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Instituto de Medicina Integral Prof. Fernando Figueira (IMIP)

R. dos Coelhos, 300 - Boa Vista, Recife - PE, 50070-902 · CNES 0000647

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Pequeno Príncipe

R. Des. Motta, 1070 - Água Verde, Curitiba - PR, 80250-060 · CNES 3143805

Serviço de Referência

Rota
Anomalias CongênitasDeficiência Intelectual

Hospital Universitário Regional de Maringá (HUM)

Av. Mandacaru, 1590 - Parque das Laranjeiras, Maringá - PR, 87083-240 · CNES 2216108

Atenção Especializada

Rota
Anomalias Congênitas

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UFPR

R. Gen. Carneiro, 181 - Alto da Glória, Curitiba - PR, 80060-900 · CNES 2364980

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário Pedro Ernesto (HUPE-UERJ)

Blvd. 28 de Setembro, 77 - Vila Isabel, Rio de Janeiro - RJ, 20551-030 · CNES 2280221

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital São Lucas da PUCRS

Av. Ipiranga, 6690 - Jardim Botânico, Porto Alegre - RS, 90610-000 · CNES 2232928

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital Universitário da UFSC (HU-UFSC)

R. Profa. Maria Flora Pausewang - Trindade, Florianópolis - SC, 88036-800 · CNES 2560356

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital das Clínicas da FMUSP

R. Dr. Ovídio Pires de Campos, 225 - Cerqueira César, São Paulo - SP, 05403-010 · CNES 2077485

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias Congênitas

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

Hospital de Clínicas da UNICAMP

R. Vital Brasil, 251 - Cidade Universitária, Campinas - SP, 13083-888 · CNES 2748223

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

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

Rota
Anomalias CongênitasErros Inatos do MetabolismoDeficiência Intelectual

UNIFESP / Hospital São Paulo

R. Napoleão de Barros, 715 - Vila Clementino, São Paulo - SP, 04024-002 · CNES 2688689

Serviço de Referência

Rota
Anomalias CongênitasErros Inatos do Metabolismo
Sobre os centros SUS: Estes centros são habilitados pelo Ministério da Saúde como Serviços de Referência em Doenças Raras ou Serviços de Atenção Especializada. O atendimento é pelo SUS, com encaminhamento da rede de atenção básica.

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.

🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
0 papers (10 anos)
#1

Insights on Acute and Chronic Lacquer Cracks as Imaged with Visible Light OCT.

Ophthalmology science2026 Apr

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.

🇧🇷 traduzido
#2

Allele-specific effects of distinct SLC26A4 variants on cochlear function and transcriptomic programs in compound heterozygous models.

Bioscience trends2026 Mar 21

**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.

🇧🇷 traduzido
#3

Attention-enhanced segmentation network for automated cerebral microbleed detection and burden assessment.

Frontiers in neuroscience2026

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.

🇧🇷 traduzido
#4

Follicle-dependent differential localization of adipokines in the letrozole-induced hyperandrogenized mouse ovary.

Histochemistry and cell biology2026 Mar 19

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.

🇧🇷 traduzido
#5

Corpus Callosotomy or Focal Surgery in Children Presenting With Generalized Tonic Seizures: Findings From the Pediatric Epilepsy Research Consortium.

Pediatric neurology2026 Mar 04

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.

🇧🇷 traduzido

Publicações recentes

Ver todas no PubMed

📚 EuropePMCmostrando 200

2026

The interaction between NPMc+ and Orai1 induces abnormal calcium influx to facilitate leukemogenesis.

The FEBS journal
2026

TUBB2A related epilepsy: novel variants and genotype-phenotype correlation.

Scientific reports
2026

A hybrid pipeline for carotid artery segmentation using YOLOv11n and contour models.

Scientific reports
2026

Insights on Acute and Chronic Lacquer Cracks as Imaged with Visible Light OCT.

Ophthalmology science
2026

Arterial thoracic outlet syndrome due to a first-rib anomaly causing brachial artery embolic occlusion: a case report.

Radiology case reports
2026

Early Binding of Anti-Amyloid Antibodies to CAA Drives Complement Activation, Inflammation and ARIA in Mice.

bioRxiv : the preprint server for biology
2025

Molecular insights into foveal hypoplasia: development, genetics, mechanisms, and models.

Molecular vision
2026

TENT-5 polyadenylates and regulates male-specific transcripts in Caenorhabditis elegans.

G3 (Bethesda, Md.)
2026

Allele-specific effects of distinct SLC26A4 variants on cochlear function and transcriptomic programs in compound heterozygous models.

Bioscience trends
2026

Targeting OXCT1 with the methyl donor S-adenosylmethionine as a therapeutic strategy for cerebral cavernous malformations.

International journal of biological macromolecules
2026

Combined toxicity of triclocarban and bisphenol S in zebrafish: Multi-level synergistic effects and driving mechanisms.

Journal of hazardous materials
2026

Novel genomic risk stratification model for primary high-grade malignant peripheral nerve sheath tumor (MPNST).

The Journal of pathology
2026

Characterizing breach rhythm in EEG: Insights into its variability and clinical impact.

Neurophysiologie clinique = Clinical neurophysiology
2026

Attention-enhanced segmentation network for automated cerebral microbleed detection and burden assessment.

Frontiers in neuroscience
2026

CAPZA1 deficiency disrupts sperm flagellar structure and motility, potentially involving the p300/SLC7A11 pathway.

Frontiers in endocrinology
2026

When BAL meets CT scan: enhancing noninvasive diagnosis of acute cellular rejection after lung transplantation.

BMC pulmonary medicine
2026

Follicle-dependent differential localization of adipokines in the letrozole-induced hyperandrogenized mouse ovary.

Histochemistry and cell biology
2026

Beyond the tear: the enduring role of aortic pathology in the era of genomic medicine.

Open heart
2026

Real world experience of direct oral anticoagulant (DOAC) use in Australian children.

Thrombosis research
2026

Corpus Callosotomy or Focal Surgery in Children Presenting With Generalized Tonic Seizures: Findings From the Pediatric Epilepsy Research Consortium.

Pediatric neurology
2026

Laparoscopic Mitrofanoff procedure in children: Feasibility and outcome analysis over 18 years in a single centre.

Journal of pediatric urology
2026

Robotic-integrated intraoperative ultrasound for excision of accessory cavitated uterine malformation (ACUM): an innovative surgical technique.

Archives of gynecology and obstetrics
2026

Prevalence of Epilepsy in Children With Autism Spectrum Disorder Referred to the Autism Clinic in a Tertiary Care Hospital in Bangladesh.

Cureus
2026

EEG Signatures of COVID-19 Survival compared to close contacts and the Cuban EEG normative database.

Clinical neurophysiology practice
2026

Hbs and Rst adhesion molecules provide a regional code that regulates cell elimination during epithelial remodeling.

iScience
2026

Prefrontal dysregulation of interoceptive and emotional processing in episodic migraine: a task-based fMRI study.

The journal of headache and pain
2026

Mild SARS-CoV-2 maternal infection in mice induces transient offspring neurodevelopmental aberrance.

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

Short-term blockade of E-prostanoid 3 receptor mitigates necroinflammation and ameliorates ischemia/reperfusion- and doxorubicin-induced acute myocardial injury.

Basic research in cardiology
2026

Transcriptomic insights into fruiting body malformations in Lentinula edodes.

Applied microbiology and biotechnology
2026

Extradural 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 Neurosurgery
2026

Inhibition of MAFB and PI3K/AKT Signaling for Hereditary FSGS with Multicentric Carpotarsal Osteolysis.

Journal of the American Society of Nephrology : JASN
2026

A Novel MID1 Mutation Identified in a Patient With Craniofacial Anomalies and X-Linked Intellectual Disability.

The Journal of craniofacial surgery
2026

[Enamel pearl with severe consequences for the tooth and periodontium].

Swiss dental journal
2026

Diagnosis of a patient with pulmonary and skeletal cryptococcosis: A case report and literature review.

The Journal of international medical research
2026

Synthesis, characterisation, computational study, amelioration of ruthenium kesar nanoparticle, antioxidant and glycolytic enzyme activity alterations in cirrhotic liver extract.

Scientific reports
2026

Unveiling glomerulonephritis in the Pacific: a Fijian cohort study.

Journal of nephrology
2025

Newly diagnosed B-cell acute lymphoblastic leukemia demonstrating localized bone marrow infiltration exclusively in the lower extremities.

Open medicine (Warsaw, Poland)
2026

Ocular motor and vestibular examination in the unconscious patient-standard of care.

Frontiers in neurology
2026

[Whole Exome Sequencing Identified Novel Pathogenic Mutations of ADGB in Patients With Oligoasthenozoospermia].

Sichuan da xue xue bao. Yi xue ban = Journal of Sichuan University. Medical science edition
2026

Pediatric anti-NMDAR encephalitis: Neuroradiological presentation, cognitive outcome and volumetric MRI analysis.

NeuroImage. Clinical
2026

New insights into enlarged parietal foramina: an anatomical, radiological, and histological study.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2026

Antenatal Maternal Smoking and Lung Function in Very Prematurely Born Children.

Pediatric pulmonology
2026

Arterial spin labeling performs comparably to 2-[18F]fluoro-2-deoxy-D-glucose positron emission tomography for presurgical evaluation in pediatric lesional epilepsy.

Epilepsia
2026

Interictal and seizure-onset scalp electroencephalographic patterns in malformations of cortical development.

Epilepsia
2026

Genomic and Functional Analysis of the ALOG Gene Family in Dioscorea alata.

Plants (Basel, Switzerland)
2026

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 MDPI
2026

Splenic Macrophage Activation and Disordered Heme-Iron Metabolism in a Mouse Model of Acute Hepatic Encephalopathy.

International journal of molecular sciences
2026

Molecular Pathways and Circulating Biomarkers in Cerebral Cavernous Malformations-A Systematic Review.

International journal of molecular sciences
2026

A Novel Rapid 3D Tissue-Clearing and Staining Approach for Enteric Neurovascular Imaging and Pathology Applications.

Diagnostics (Basel, Switzerland)
2026

Endometriosis-Related Impairment in Assisted Reproductive Technologies: Inflammatory Profiles, Oocyte Competence, and Embryo Development.

Journal of clinical medicine
2026

Focal seizures during simulated driving: A pilot study.

Epilepsia
2026

Epilepsy 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 Society
2026

Relapse of adult B-cell acute lymphoblastic leukemia in the bilateral lacrimal glands: A case report and literature review.

Medicine
2026

MRI-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 Neurophysiology
2026

Low 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 Society
2026

Validated semi-supervised early and accurate screening for anterior segment diseases: a 3PM-guided conceptual and technological innovation.

The EPMA journal
2026

Efficacy and safety of Dysmenorrhea Patch acupoint application in women with primary dysmenorrhea: a randomized double-blind controlled trial.

Frontiers in endocrinology
2026

Classification 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 pediatrics
2026

Bedaquiline-related QTc Prolongation in Multidrug Resistant Tuberculosis Patients: A Prospective Study.

The Journal of the Association of Physicians of India
2026

A numerical study on the effect of laser therapy against port-wine stain by administering artificial red blood cells.

Lasers in medical science
2026

Expanding 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 dysmorphology
2026

IoT-based Stomach abnormality detection via hybrid MDCNN-Bi-LSTM architecture with statistical and texture features.

Informatics for health &amp; social care
2026

Seizures as the initial manifestation: characterizing the adult phenotype of MOG antibody-associated disease.

Frontiers in neurology
2026

Infectious Thyroiditis in Children: A Challenging Diagnosis and Management.

Cureus
2026

Paroxysmal Nocturnal Hemoglobinuria as a Rare Cause of Chronic Asymptomatic Hemolysis: A Case Report.

Cureus
2026

Incidental 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 reports
2026

Spinal epidural arteriovenous malformations: clinical, imaging, and angioarchitectural characteristics with endovascular treatment outcomes-a single-centre experience.

Clinical radiology
2026

Echocardiographic Strain Analysis Compared With Assessment of Fibrosis by Cardiac Magnetic Resonance in the Evaluation of Chagas Cardiomyopathy.

Echocardiography (Mount Kisco, N.Y.)
2026

Network Disconnection Syndrome in Unruptured Brain Arteriovenous Malformations: A Multimodal Connectome Study.

CNS neuroscience &amp; therapeutics
2026

Homozygous Myo7A mutation associations teratozoospermia and intracytoplasmic sperm injection failure in humans and mice.

Translational andrology and urology
2026

Clonal 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 hematology
2026

Microcephaly with Simplified Gyral Pattern in Children: Quantitative Morphometric Assessment on Brain MRI and Correlation with Clinical Outcome.

AJNR. American journal of neuroradiology
2026

Atypical Tactile Expressions Using Japanese Ideophones in Adults With Autism Spectrum Disorders.

Journal of autism and developmental disorders
2025

[Diagnosis and treatment of post-traumatic arteriovenous fistulas of the upper and lower extremities].

Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgery
2025

[Sclerotherapy in treatment of venous malformations in the maxillofacial region in children].

Angiologiia i sosudistaia khirurgiia = Angiology and vascular surgery
2026

Epilepsy-associated FOXJ3 variants link a transcriptional program of the PTEN-mTOR pathway to neuronal specification and cortical lamination.

Nature communications
2026

Scrotal uptake on PSMA PET in prostate cancer: differentiating metastases from benign and physiologic findings using ultrasound correlation.

Abdominal radiology (New York)
2026

Ischemic Stroke in a 28-Year-Old Young Adult Associated With Chronic Triptan and Non-Steroidal Anti-Inflammatory Drug (NSAID) Use.

Cureus
2026

Macrocystic Lymphangioma of the Chest Wall: A Rare Localization.

Cureus
2026

Likelihood and Predictors of Acute Findings on CTA Head and Neck for Neurologic Presentations to the Emergency Department.

Neurology. Clinical practice
2026

Prevalence of Capitellar Osteochondral Abnormalities in Healthy Youth Gymnasts: An Ultrasound Study.

Orthopaedic journal of sports medicine
2026

Pimicotinib versus placebo for tenosynovial giant cell tumour (MANEUVER): an international, randomised, placebo-controlled, phase 3 trial.

Lancet (London, England)
2026

Transesophageal echocardiography (TEE)-guided management of post-myocardial infarction complications.

The international journal of cardiovascular imaging
2026

Clinical course and patient-reported outcomes in conservatively managed spinal cavernous malformations.

Journal of neurology
2026

A Novel Model System to Identify Cellular and Molecular Defects Underlying Rare Genetic Disorders.

Experimental dermatology
2026

Kidney pathology findings in pediatric patients with kidney injury and inflammatory bowel disease: a case series.

Pediatric nephrology (Berlin, Germany)
2026

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 care
2026

Epilepsy characteristics in patients with muscle-eye-brain disease: A systematic review of electroclinical features.

Epileptic disorders : international epilepsy journal with videotape
2026

Bronchoscopy-guided bronchial artery embolization: a case report.

Journal of medical case reports
2026

Finnish-Enriched SLC26A7 Variant in Congenital Hypothyroidism: Clinical Spectrum, Thyroid Histopathology, and Expression Analysis.

Thyroid : official journal of the American Thyroid Association
2026

Persimmon-induced excessive anticoagulation in a patient with mechanical heart valves receiving warfarin therapy: A case report.

Medicine
2026

Arrhythmogenic left ventricular cardiomyopathy managed with CRT-D: A case report.

Medicine
2026

Microstructure imaging in patients undergoing evaluation for epilepsy surgery or low-grade glioma: Clinical utility of a novel diffusion MRI method.

Epilepsia open
2026

One-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 radiology
2026

Diagnostic yield of chromosomal microarray and virtual targeted gene panel analysis in adults with focal epilepsy: implications for sequential genetic testing strategy.

Seizure
2026

Co-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 medicine
2026

Vein of Galen Malformation with Pial Arteriovenous Fistula in a 12-month-old Child.

Asian journal of neurosurgery
2026

nphp4 deficiency disrupts testicular homeostasis and impairs male fertility in medaka (Oryzias latipes).

Reproduction (Cambridge, England)
2026

Surgical excision of giant axillary cystic lymphangioma: a case report.

Journal of medical case reports
2026

Combined ultrasound localization and bronchoscopic-guided percutaneous dilatational tracheostomy in a child with pharyngolaryngeal venous malformation: a case report.

BMC anesthesiology
2026

Disentangling the relationship between psychiatric disorders, cardiometabolic abnormalities, and antipsychotics: A systematic review of genomic studies.

Schizophrenia research
2026

miRNome profiling in Tritia mutabilis embryos exposed to tributyltin: insights into developmental toxicity.

Marine pollution bulletin
2026

Reduced alpha-band phase coherence and cortical complexity in fibromyalgia: A tms-eeg exploratory study.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2026

Differential Effects of DLX3 Mutations Drive Phenotypic Variability in Tricho-Dento-Osseous Syndrome via Direct Activation of WNT10A.

Annals of the New York Academy of Sciences
2026

Leaking Encephaloceles-Strategies in Management Based on 27 Patients.

The Journal of craniofacial surgery
2026

Methicillin Resistant Staphylococcus Aureus Colonization, The Tip of the Iceberg for Congenital Pulmonary Airway Malformation. A Case Report.

La Clinica terapeutica
2026

Beyond motor impairment: investigating cognitive aspects of hereditary spastic paraplegia in a Greek case series.

Neurocase
2026

Demyelinating Leprosy Neuropathy: An Unusual and Misleading Electrophysiological Pattern.

Muscle &amp; nerve
2026

A 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 hematopathology
2026

Two Cases of Physical Therapy Focusing on the Meniscotibial Ligament and Its Associated Fat Pad for Medial Knee Pain in Knee Osteoarthritis.

Cureus
2026

Complexities of Occult and Obscure Gastrointestinal Bleeding: A Case Report.

Cureus
2025

[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 internationale
2026

Long term speech outcome post cleft palate repair in Kenya: Literature review.

JPRAS open
2026

Postsurgical Seizure Outcome for Epilepsy Patients According to Histopathological Diagnosis: A Single-Center Experience.

Neuropsychiatric disease and treatment
2026

Recent advances in the detection technologies for balanced chromosomal rearrangements.

Frontiers in genetics
2026

RNA-seq analysis reveals altered gene expression profiles in HMEC-1 cells overexpressing KRAS gene associated with brain arteriovenous malformation.

Chinese neurosurgical journal
2026

Involvement of serotonin receptor 7 in synaptic dysfunctions in a mouse model of autism spectrum disorder.

European journal of pharmacology
2026

Elevated 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 Neurophysiology
2026

Safety and effectiveness of first-line endovascular management of brain micro- arteriovenous malformations: a single center experience in 34 patients.

Journal of neuroradiology = Journal de neuroradiologie
2026

Future gender in pediatric transgender and DSD/intersex consultations: a conversation analysis.

Social science &amp; medicine (1982)
2026

Systematic review of terminology, definitions, and eligibility criteria in trials of neonatal encephalopathy, hypoxic-ischemic encephalopathy, and perinatal asphyxia.

Pediatric research
2026

Time-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 : JVIR
2026

TAZ (Wwtr1) deficiency leads to ER stress and mitochondrial dysfunction in a mouse model of Fuchs' endothelial corneal dystrophy.

bioRxiv : the preprint server for biology
2026

Regulation of spontaneous neurotransmission and homeostatic synaptic plasticity by synaptotagmin-1 disease variants at the SNARE primary interface.

bioRxiv : the preprint server for biology
2026

Persistent Unilateral Nerve Paresthesia Following Suspected Viral Infection.

Case reports in dentistry
2026

Evaluating the real-world safety of cholestyramine for the treatment of hyperlipidemia: disproportionality analysis of FAERS data.

Frontiers in medicine
2026

[When kidney disease is genetic: clues for the primary care physician].

Revue medicale suisse
2026

Acquired Uterine Arteriovenous Fistulas After First-Trimester Pregnancy Loss: A Narrative Review with Case-Based Insights into Minimally Invasive Management.

Medicina (Kaunas, Lithuania)
2026

Preliminary Toxicological Evaluation of Spherical Nanoparticles Containing an Imidazole Derivative (BzIm-DEA) Using the CAM Chicken Model.

International journal of molecular sciences
2026

Nonsense Mutation in USH2A Exon-13 Activates the Innate Immune Response in Müller Glial Cells.

International journal of molecular sciences
2026

Reassessing Benign ASXL1 Variants in Bohring-Opitz Syndrome: The Role of Population Databases in Variant Reinterpretation.

Genes
2026

An Improved Microaneurysms Detection for Diabetic Retinopathy Screening Using YOLO.

Biomedicines
2026

Mitochondria-Associated MicroRNAs: Emerging Roles in the Pathogenesis of Parkinson's Disease.

Biomedicines
2026

Abnormalities on Spinal Magnetic Resonance Imaging in Children and Adolescents: A Two-Center Retrospective Cohort Study.

Children (Basel, Switzerland)
2026

Disrupted STIL-BRCA1 axis causes centrosome amplification and genomic instability.

FEBS letters
2026

Association of Cardiovascular-Kidney-Syndrome and Brain Macrostructure and Microstructure Injury: A Prospective Cohort Study.

Diabetes, obesity &amp; metabolism
2026

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium leading to nanophthalmos.

JCI insight
2026

Spontaneous Coronary Artery Dissection: Sex Differences in Clinical Presentation and Outcomes From the Australian New Zealand Registry.

Journal of the American Heart Association
2026

Fog/Edge-Aware State Space Models for Multi-Task Chest X-ray Report Generation and Lesion Detection.

IEEE journal of biomedical and health informatics
2026

Optical coherence tomography-derived coronary vessel wall abnormalities in adults long after Kawasaki disease.

PloS one
2026

Long-term follow-up of linear scleroderma en coup de sabre in children with central nervous system involvement.

Frontiers in immunology
2026

Oral Necrotizing Ulcerations in Acute Leukemia Patients: Clinical Characteristics, Integrated Management, and Favorable Outcomes - A Case Series.

International medical case reports journal
2026

An 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 Neuropathology
2026

A Case of Prostatic Mixed Germ Cell Tumor Showing Pagetoid Spread Into the Vas Deference in a Patient With Klinefelter Syndrome.

Pathology international
2026

Syndrome attractors: providing a system dynamics view of disease from the integrative medicine perspective.

Journal of integrative medicine
2026

Cardiac conduction system malformations in heterotaxy result from dysregulated Pitx2 expression.

JCI insight
2026

Effectiveness of Baricitinib on Nail Alopecia Areata: A 48-Week Single-Center Retrospective Study.

Clinical drug investigation
2026

Association Between Renal Dysfunction and Cerebral Small Vessel Disease: A Prospective Cohort Study From the UK Biobank.

CNS neuroscience &amp; therapeutics
2026

Immune-Mediated Transverse Myelitis in a Filipino Patient With Prior Hematopoietic Stem Cell Transplantation: A Case Report.

Cureus
2026

NOTCH2NLC GGC repeat expansions cause retinal neurodegeneration in neuronal intranuclear inclusion disease mouse model.

Cell &amp; bioscience
2026

Quantitative evaluation of the topographical maps of three-dimensional choroidal vascularity index in gestational diabetes mellitus: a cross-sectional observational study.

BMC pregnancy and childbirth
2026

Rediscovering the physical exam: lingual thyroid in juvenile hypothyroidism- a case report.

BMC pediatrics
2026

Diagnostic 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 neuroradiology
2026

Clinical Characteristics, Surgical Outcomes, and Recurrence Factors of Cerebrospinal Fluid Otorrhea Associated With Inner Ear Malformations: A Retrospective Cohort Study.

Otology &amp; neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology
2026

Neutrophil extracellular traps in gynecological disease: pathogenic mechanisms and therapeutic opportunities.

Frontiers in medicine
2026

Unmasking Wilson's Disease Through Severe Psychiatric Manifestations: A Case Report.

Cureus
2026

Seizure phenotypes and short-term prognosis in neonatal lupus: a multicenter retrospective cohort in China.

Frontiers in immunology
2026

Severe diffused glans penis venous malformation: successful management with 'fractional' Long-pulsed Nd: YAG laser therapy.

The Journal of dermatological treatment
2025

Pretibial epidermolysis bullosa: compound heterozygous variants in a rare dystrophic epidermolysis bullosa subtype.

Dermatology online journal
2026

Novel Mutations in KCNJ10 Gene Associated With SeSAME Syndrome: Rare Disorder With Possible Common Mutation.

Molecular genetics &amp; genomic medicine
2026

Sleep-like slow waves in ADHD: Regional specificity in combined type.

International journal of psychophysiology : official journal of the International Organization of Psychophysiology
2025

Quantitative characterization of uterine peristalsis propagation throughout the menstrual cycle using a novel intracavitary electrohysterography method.

Reproductive biomedicine online
2026

Familial cartilage-hair hypoplasia: prenatal ultrasound features and clinical outcomes in three siblings with identical RMRP variants.

BMJ case reports
2026

Bi-allelic variants in FSD1L cause a neurodevelopmental disorder overlapping with L1 syndrome.

American journal of human genetics
2026

Preliminary evaluation of ferrous sulphate toxicity on larvae of the sea urchin Paracentrotus lividus: implications for ocean iron fertilization.

Marine pollution bulletin
2026

Misconnected: Valve Failure from an Unexpected Chordal Insertion.

Portuguese journal of cardiac thoracic and vascular surgery
2026

Modified Pectus Up and the Portuguese Case Series.

Portuguese journal of cardiac thoracic and vascular surgery
2026

Sectoral and Layer-Specific Corneal Thinning in Thyroid Eye Disease: A Cross-Sectional Study.

Translational vision science &amp; technology
2026

Childhood chronic stress associated with abnormal brain white matter networks in first-episode, drug-naïve MDD adolescents: a machine learning study.

Frontiers in psychiatry
2026

A deep Siamese network framework for precision phage selection in pulmonary infections.

Frontiers in medicine
2026

Case 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 neuroscience
2026

Advanced kidney mass segmentation using VHUCS-Net with protuberance detection network.

Frontiers in artificial intelligence
2026

An Automated Hybrid Deep Learning-based Model for Breast Cancer Detection using Mammographic Images.

Current medical imaging
2026

Functional Roles of Non-Coding RNAs in Graves' Disease.

Current molecular medicine
2026

Chromatin remodelling subunit SMARCB1 is implicated in dendrite development and complex brain functions.

Acta neuropathologica communications
2026

The 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 Injuries
2026

Peculiar Phenotype of Linear Prepubertal Hidradenitis Suppurativa Associated With Trisomy 13: Report of Two Clinical Cases.

Pediatric dermatology
2026

Deep Learning Automated Measurement of Shunt Severity with Estimation of Uncertainty in 4D Flow MRI.

Radiology. Cardiothoracic imaging
2025

Neuronal injury and hepatotoxicity: astrocytes and stellate cells convergence and their role in tissue repair.

Frontiers in neuroscience
2026

Supramolecular delivery of senolytics enables targeted anti-senescence therapy and accelerated fracture healing.

Journal of nanobiotechnology
2026

KRAS-dependent glycolytic reprogramming of endothelial cells in sporadic arteriovenous malformations.

EMBO molecular medicine
2026

Guizhi Gancao Decoction protects against doxorubicin-induced cardiotoxicity by intervening in microtubule acetylation.

Journal of ethnopharmacology
2026

Incidence of Bleomycin-Induced Hyperpigmentation in Patients Undergoing Sclerotherapy for Low-Flow Vascular Malformations.

Journal of vascular and interventional radiology : JVIR
2026

Functional network organization is locally atypical in children, adolescents, and young adults with congenital heart disease.

NeuroImage. Clinical
2026

AAV8 gene therapy and dietary insults together precipitate cholestatic liver disease in a mouse model of X-linked myotubular myopathy.

Science translational medicine
2026

Benefits of Bilateral Bone Conduction Device Use Including Osia Devices in Children and Adolescents With Bilateral Atresia.

Trends in hearing
2026

SNUPN variants cause spinocerebellar atrophy by disrupting global splicing in cerebellar Purkinje cells.

Brain : a journal of neurology
2026

Endoscopic resection in treatment of intramural esophageal cysts: Retrospective analysis of 67 cases.

Endoscopy international open
2026

Distinct neurobiological alterations during hedonic experience of rewards in attention deficit hyperactivity disorder and autism spectrum disorder: Multimodal evidence from neuroimaging meta-analyses.

Molecular psychiatry
2026

Who 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 sciences
2026

Inner Retinal Reflectivity Loss and Concurrent Thickening Predict Short-Term Conversion to Neovascular AMD.

Investigative ophthalmology &amp; visual science
2026

Surgical management of a traumatic calcaneal fracture in a kitten using three-dimensional CT imaging.

JFMS open reports
2026

Gitelman Syndrome With Two Variants of Uncertain Significance: A Case Report.

Cureus
2026

Survival 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 Neurosurgery
2026

Early Detection of Neuroblastoma Recurrence on 18F mFBG PET.

Clinical nuclear medicine
2026

The Clinical Spectrum and Neurodevelopmental Pathogenesis of KPTN-Related Disorder in a Mouse Model.

Annals of neurology
2026

Mutant 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 Metabolism
2026

Body surface potential mapping of ventricular depolarization and repolarization in phospholamban and plakophilin-2 cardiomyopathy.

Heart rhythm O2
2026

Association Between the Triglyceride-Glucose Index and Acute Myocardial Infarction: A Retrospective Case-Control Study.

Cureus

Associações

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 login

Doenças 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.

  1. Insights on Acute and Chronic Lacquer Cracks as Imaged with Visible Light OCT.
    Ophthalmology science· 2026· PMID 41869414mais citado
  2. Allele-specific effects of distinct SLC26A4 variants on cochlear function and transcriptomic programs in compound heterozygous models.
    Bioscience trends· 2026· PMID 41866189mais citado
  3. Attention-enhanced segmentation network for automated cerebral microbleed detection and burden assessment.
    Frontiers in neuroscience· 2026· PMID 41859233mais citado
  4. Follicle-dependent differential localization of adipokines in the letrozole-induced hyperandrogenized mouse ovary.
    Histochemistry and cell biology· 2026· PMID 41857436mais citado
  5. Corpus Callosotomy or Focal Surgery in Children Presenting With Generalized Tonic Seizures: Findings From the Pediatric Epilepsy Research Consortium.
    Pediatric neurology· 2026· PMID 41855704mais citado
  6. Combined toxicity of triclocarban and bisphenol S in zebrafish: Multi-level synergistic effects and driving mechanisms.
    J Hazard Mater· 2026· PMID 41864032recente
  7. Novel genomic risk stratification model for primary high-grade malignant peripheral nerve sheath tumor (MPNST).
    J Pathol· 2026· PMID 41863012recente
  8. Characterizing breach rhythm in EEG: Insights into its variability and clinical impact.
    Neurophysiol Clin· 2026· PMID 41861497recente
  9. CAPZA1 deficiency disrupts sperm flagellar structure and motility, potentially involving the p300/SLC7A11 pathway.
    Front Endocrinol (Lausanne)· 2026· PMID 41858859recente

Bases de dados e fontes oficiais

Identificadores e referências canônicas usadas para montar este verbete.

  1. ORPHA:352587(Orphanet)
  2. MONDO:0018125(MONDO)
  3. Epilepsia(PCDT · Ministério da Saúde)
  4. GARD:21522(GARD (NIH))
  5. Variantes catalogadas(ClinVar)
  6. Busca completa no PubMed(PubMed)
  7. 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

Compêndio · Raras BR

Epilepsia focal-perturbação do desenvolvimento intelectual-malformação cérebro-cerebelosa

ORPHA:352587 · MONDO:0018125
🇧🇷 Brasil SUS
Geral
Prevalência
<1 / 1 000 000
Casos
7 casos conhecidos
Herança
Autosomal recessive
CID-10
Q04.8 · Outras malformações congênitas especificadas do encéfalo
Início
Infancy
Prevalência
0.0 (Worldwide)
MedGen
UMLS
C4707306
Repurposing
14 candidatos
aminohydroxybutyric-acidcarbonic anhydrase inhibitor
diclofenamidesuccinimide antiepileptic
ethosuximideglutamate receptor antagonist
+11 outros
Wikidata
DiscussaoAtiva

Nenhuma novidade ainda. O agente esta monitorando.

0membros
0novidades