Carmen Barba
A5077774398- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- EEG and Brain-Computer Interfaces
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Advanced MRI Techniques and Applications
- Neonatal and fetal brain pathology
- Genomics and Rare Diseases
- Functional Brain Connectivity Studies
- Fetal and Pediatric Neurological Disorders
- Glioma Diagnosis and Treatment
- Neurological disorders and treatments
- Metabolism and Genetic Disorders
- Transcranial Magnetic Stimulation Studies
- Neural dynamics and brain function
- Traumatic Brain Injury Research
- Motor Control and Adaptation
- Traumatic Brain Injury and Neurovascular Disturbances
- Cerebrospinal fluid and hydrocephalus
- Neuroscience and Neural Engineering
- Advanced Neuroimaging Techniques and Applications
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- Amino Acid Enzymes and Metabolism
- Vagus Nerve Stimulation Research
Meyer Children's Hospital
2016-2025
University of Florence
2016-2025
Stichting Epilepsie Instellingen Nederland
2024
University of Amsterdam
2024
Amsterdam Neuroscience
2024
University Medical Center Utrecht
2024
Brazilian Institute of Neuroscience and Neurotechnology
2024
Universidade Estadual de Campinas (UNICAMP)
2022-2024
Universidad Técnica de Ambato
2017-2024
Alexandra Hospital
2024
Detailed neuropathological information on the structural brain lesions underlying seizures is valuable for understanding drug-resistant focal epilepsy.We report diagnoses made basis of resected specimens from 9523 patients who underwent epilepsy surgery in 36 centers 12 European countries over 25 years. Histopathological were determined through examination local hospitals (41%) or at German Neuropathology Reference Center Epilepsy Surgery (59%).The onset occurred before 18 years age 75.9%...
Abstract See Engel (doi:10.1093/awv374) for a scientific commentary on this article. Reasons failed temporal lobe epilepsy surgery remain unclear. Temporal plus epilepsy, characterized by primary epileptogenic zone extending to neighboured regions, might account yet unknown proportion of these failures. In study all patients from two programmes who fulfilled the following criteria were included: (i) operated an anterior lobectomy or disconnection between January 1990 and December 2001; (ii)...
Temporal 'plus' epilepsies are characterized by seizures involving a complex epileptogenic network including the temporal lobe and closed neighboured structures such as orbito-frontal cortex, insula, frontal parietal operculum temporo-parieto-occipital junction. currently identified means of intracerebral electrodes but whether their diagnosis can be suspected non-invasively has not been evaluated yet. The aim this retrospective study was to address issue in 80 consecutive patients who were...
Targeted resequencing gene panels are used in the diagnostic setting to identify defects epilepsy. We performed targeted using a 30-genes panel and 95-genes 349 patients with drug-resistant epilepsies beginning first years of life. identified 71 pathogenic variants, 42 which novel, 30 genes, corresponding 20.3% probands. In 66% mutation positive patients, epilepsy onset occurred before age 6 months. The allowed genetic diagnosis 22 (6.3%) that would have otherwise been missed 30-gene panel....
Summary Objective To assess the diagnostic yield of 7T magnetic resonance imaging ( MRI ) in detecting and characterizing structural lesions patients with intractable focal epilepsy unrevealing conventional (1.5 or 3T) . Methods We conducted an observational clinical study on 21 (17 adults 4 children) epilepsy, exhibiting electroencephalographic features consistent a single seizure‐onset zone SOZ Patients were enrolled at two tertiary surgery centers imaged 7T, including whole brain...
Objective Antiepileptic drugs (AEDs) have cognitive side effects that, particularly in children, may affect intellectual functioning. With the TimeToStop (TTS) study, we showed that timing of AED withdrawal does not majorly influence long‐term seizure outcomes. We now aimed to evaluate effect on postoperative intelligence quotient (IQ), and change IQ (delta IQ) following pediatric epilepsy surgery. Methods collected scores children from TTS cohort with both pre‐ neuropsychological...
Polymicrogyria is a malformation of cortical development that often identified in children with epilepsy or delayed development. We investigated vivo the potential 7T imaging characterizing polymicrogyria to determine whether additional features could be identified.Ten adult patients previously diagnosed by using 3T MR underwent at 7T. assessed according topographic pattern, extent, symmetry, and morphology. Additional sequences included 3D T2* susceptibility-weighted angiography 2D tissue...
To test the hypothesis that a multicenter-validated computer deep learning algorithm detects MRI-negative focal cortical dysplasia (FCD).We used clinically acquired 3-dimensional (3D) T1-weighted and 3D fluid-attenuated inversion recovery MRI of 148 patients (median age 23 years [range 2-55 years]; 47% female) with histologically verified FCD at 9 centers to train convolutional neural network (CNN) classifier. Images were initially deemed in 51% patients, whom intracranial EEG determined...
Drug-resistant focal epilepsy is often caused by cortical dysplasias (FCDs). The distribution of these lesions across the cerebral cortex and impact lesion location on clinical presentation surgical outcome are largely unknown. We created a neuroimaging cohort patients with individually mapped FCDs to determine factors associated predictors postsurgical outcome.
Abstract One outstanding challenge for machine learning in diagnostic biomedical imaging is algorithm interpretability. A key application the identification of subtle epileptogenic focal cortical dysplasias (FCDs) from structural MRI. FCDs are difficult to visualize on MRI but often amenable surgical resection. We aimed develop an open-source, interpretable, surface-based machine-learning automatically identify heterogeneous data epilepsy surgery centres worldwide. The Multi-centre Epilepsy...
Abstract Constitutional heterozygous mutations of ATP1A2 and ATP1A3, encoding for two distinct isoforms the Na+/K+-ATPase (NKA) alpha-subunit, have been associated with familial hemiplegic migraine (ATP1A2), alternating hemiplegia childhood (ATP1A2/A3), rapid-onset dystonia-parkinsonism, cerebellar ataxia-areflexia-progressive optic atrophy, relapsing encephalopathy ataxia (all ATP1A3). A few reports described single individuals ATP1A2/A3 severe epilepsies. Early lethal hydrops fetalis,...
Patients with presumed nonlesional focal epilepsy-based on either MRI or histopathologic findings-have a lower success rate of epilepsy surgery compared lesional patients. In this study, we aimed to characterize large group patients who underwent despite normal and had no lesion histopathology. Determinants their postoperative seizure outcomes were further studied.
The objective of this study is to identify the clinical, neuropsychological, neuropsychiatric, and functional variables that correlate with metacognitive self-awareness (SA) in severe traumatic brain injury (TBI) outpatients assess influence same on sensory-motor, cognitive, behavioral-affective indicators SA. This cross-sectional observational evaluated 37 from May 2006 June 2007 a neurorehabilitation hospital basis following inclusion criteria: (1) age 8); (3) posttraumatic amnesia (PTA)...
Summary Objective To report on six patients with SCN 1A mutations and malformations of cortical development ( MCD s) describe their clinical course, genetic findings, electrographic, imaging, neuropathologic features. Methods Through our database epileptic encephalopathies, we identified 120 mutations, which 4 had magnetic resonance imaging MRI) evidence s. We collected two further similar observations through the European Task‐force for Epilepsy Surgery in Children. Results The study group...
To profile European trends in pediatric epilepsy surgery (<16 years of age) between 2008 and 2015.We collected information on volumes types surgery, pathology, seizure outcome from 20 recognized reference centers 10 countries.We analyzed retrospective aggregate data 1859 operations. The proportion surgeries significantly increased over time (P < .0001). Engel class I was achieved 69.3% children, with no significant improvement 2015. histopathological findings consistent glial scars the ages...
Single germline or somatic activating mutations of mammalian target rapamycin (mTOR) pathway genes are emerging as a major cause type II focal cortical dysplasia (FCD), hemimegalencephaly (HME) and tuberous sclerosis complex (TSC). A double-hit mechanism, based on primary mutation in one allele secondary hit affecting the other same gene small number cells, has been documented some patients with TSC FCD. In patient HME, severe intellectual disability, intractable seizures hypochromic skin...
To assess seizure and cognitive outcomes their predictors in children (<16 years at surgery) adults undergoing temporal lobe epilepsy (TLE) surgery eight Italian centers.This is a retrospective multicenter study. We performed descriptive analysis subsequently carried out multivariable mixed-effect models corrected for multiple comparisons.We analyzed data from 511 patients (114 children) observed significant differences several clinical features between children. The possibility of achieving...
Abstract Epilepsy presurgical investigation may include focal intracortical single-pulse electrical stimulations with depth electrodes, which induce cortico-cortical evoked potentials at distant sites because of white matter connectivity. Cortico-cortical provide a unique window on functional brain networks they contain sufficient information to infer dynamical properties large-scale connectivity, such as preferred directionality and propagation latencies. Here, we developed biologically...
The SLC35A2 gene, located at chromosome Xp11.23, encodes for a uridine diphosphate-galactose transporter. We describe clinical, genetic, neuroimaging, EEG, and histopathologic findings assess possible predictors of postoperative seizure cognitive outcome in 47 patients with refractory epilepsy brain somatic gene variants.This is retrospective multicenter study where we performed descriptive analysis classical hypothesis testing. included the variables interest significantly associated...
Abstract Objective This study was undertaken to develop a standardized grading system based on expert consensus for evaluating the level of confidence in localization epileptogenic zone (EZ) as reported published studies, harmonize and facilitate systematic reviews field epilepsy surgery. Methods We conducted Delphi involving 22 experts from 18 countries, who were asked rate their EZ various theoretical clinical scenarios, using different scales. Information provided these scenarios included...