A5044798011- RNA Research and Splicing
- Glioma Diagnosis and Treatment
- Genomics and Rare Diseases
- RNA regulation and disease
- Neuroscience and Neuropharmacology Research
- Mitochondrial Function and Pathology
- MicroRNA in disease regulation
- Extracellular vesicles in disease
- Functional Brain Connectivity Studies
- Tuberous Sclerosis Complex Research
- Genetic and Kidney Cyst Diseases
- RNA and protein synthesis mechanisms
- Metabolism and Genetic Disorders
- Epilepsy research and treatment
Brazilian Institute of Neuroscience and Neurotechnology
2018-2023
Universidade Estadual de Campinas (UNICAMP)
2018-2023
Pontifícia Universidade Católica de Campinas
2021
Genomic (Brazil)
2021
Abstract Objective Focal cortical dysplasia (FCD) is a major cause of difficult‐to‐treat epilepsy in children and young adults, the diagnosis currently based on microscopic review surgical brain tissue using International League Against Epilepsy classification scheme 2011. We developed an iterative histopathological agreement trial with genetic testing to identify areas diagnostic challenges this widely used scheme. Methods Four web‐based digital pathology trials were completed by 20...
Introduction Focal cortical dysplasia (FCD) is a common cause of pharmacoresistant epilepsy. According to the 2022 International League Against Epilepsy classification, FCD type II characterized by dysmorphic neurons (IIa and IIb) may be associated with balloon cells (IIb). We present multicentric study evaluate transcriptomes gray white matters surgical specimens. aimed contribute pathophysiology tissue characterization. Methods investigated (a b) control samples performing RNA-sequencing...
Focal cortical dysplasias (FCDs) are an important cause of drug-resistant epilepsy. In this work, we aimed to investigate whether abnormal gene regulation, mediated by microRNA, could be involved in FCD type II.We used total RNA from the brain tissue 16 patients with II and 28 controls. MicroRNA expression was initially assessed microarray. Quantitative polymerase chain reaction, situ hybridization, luciferase reporter assays, deep sequencing for genes mTOR pathway were performed validate...
Abstract Focal cortical dysplasia is a highly epileptogenic malformation with few treatment options. Here, we generated human organoids from patients focal type II. Using this model, mimicked some hallmarks, such as impaired cell proliferation, the presence of dysmorphic neurons and balloon cells, neuronal network hyperexcitability. Furthermore, observed alterations in adherens junctions zonula occludens-1 partitioning defective 3, reduced polarization actin cytoskeleton, fewer synaptic...
ABSTRACT Focal cortical dysplasia (FCD) is a common cause of pharmacoresistant epilepsy. According to the 2022 International League Against Epilepsy classification, FCD type II characterized by dysmorphic neurons (IIa and IIb) may be associated with balloon cells (IIb). We present multicentric study evaluate transcriptomes gray white matters surgical specimens. aimed contribute pathophysiology tissue characterization. investigated (a b) control samples performing RNA-sequencing followed...