Gonzalo Alonso Ramos-Rivera
A5000897180- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Neonatal and fetal brain pathology
- Drug Transport and Resistance Mechanisms
- Neuroscience and Neuropharmacology Research
- Neurological disorders and treatments
- Neuroinflammation and Neurodegeneration Mechanisms
- Botulinum Toxin and Related Neurological Disorders
- Genetic Neurodegenerative Diseases
- Genomic variations and chromosomal abnormalities
- Multiple Sclerosis Research Studies
- Vagus Nerve Stimulation Research
- Congenital heart defects research
- Neurogenetic and Muscular Disorders Research
- Advanced biosensing and bioanalysis techniques
Martin University Hospital
2024
Comenius University Bratislava
2017-2024
National Institute of Cardiovascular Diseases
2020
Objective: To analyze postsurgical outcomes in relation to epilepsy characteristics and genetic etiology pediatric patients with isolated low-grade associated tumors (LEAT) LEAT plus focal cortical dysplasia type IIIb (FCD IIIb) who underwent surgery. Methods: Patients younger than 19 years at the time of surgery, or FCD a minimum follow-up 2 were included. Clinical data, neuroimaging, EEG, neuropsychological findings, surgical variables, histopathological molecular-genetic findings...
Abstract Objective Epilepsy surgery in the operculoinsular cortex is challenging due to difficult delineation of epileptogenic zone and high risk postoperative deficits. Methods Pre‐ postsurgical data from 30 pediatric patients who underwent at Motol Center Prague 2010 2022 were analyzed. Results Focal cortical dysplasia (FCD; n = 15, 50%) was predominant cause epilepsy, followed by epilepsy‐associated tumors ( 5, 17%) tuberous sclerosis complex 2, 7%). In eight where FCD most likely...
We comprehensively characterized a large pediatric cohort with focal cortical dysplasia (FCD) type 1 to expand the phenotypic spectrum and identify predictors of postsurgical outcomes.
PurposeWe sought to delineate the genotypic and phenotypic spectrum of female male individuals with X-linked, MSL3-related disorder (Basilicata–Akhtar syndrome).MethodsTwenty-five (15 males, 10 females) causative variants in MSL3 were ascertained through exome or genome sequencing at ten different centers.ResultsWe identified multiple variant types (ten nonsense, six frameshift, four splice site, three missense, one in-frame-deletion, multi-exon deletion), most proven be de novo, clustering...
Abstract Background Immune-mediated mechanisms substantially contribute to the Rasmussen encephalitis (RE) pathology, but for unknown reasons, immunotherapy is generally ineffective in patients who have already developed intractable epilepsy; overall laboratory data regarding effect of on with RE are limited. We analyzed multiple samples from seven differently treated children and evaluated effects immunotherapies neuroinflammation. Immunotherapy was introduced all at time epilepsy they had...
Abstract Objective Epilepsy surgery in the operculo-insular cortex is challenging due to difficult delineation of epileptogenic zone and high risk post-operative deficits following resections this region. Methods Pre- post-surgical data from 30 pediatric patients who underwent opercular-insular at Motol Center Prague 2010 2022 were analyzed. Results Focal cortical dysplasia (FCD, n = 15) was predominant cause epilepsy studied, followed by epilepsy-associated tumors (n 5) tuberous sclerosis...
ABSTRACT Objectives We comprehensively characterised a large paediatric cohort with histologically confirmed focal cortical dysplasia (FCD) type 1 to demonstrate the role of advanced multimodal pre-surgical evaluation and identify predictors postsurgical outcomes. Methods This study comprised systematic re-analysis clinical, electrophysiological, radiological features. The results this served as independent variables for subsequent statistical analyses outcome predictors. Results All...