A5087346699- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Autoimmune Neurological Disorders and Treatments
- Neonatal and fetal brain pathology
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Glycogen Storage Diseases and Myoclonus
- Peripheral Neuropathies and Disorders
- Diet and metabolism studies
- Genomic variations and chromosomal abnormalities
- RNA regulation and disease
- Ion channel regulation and function
- Tuberous Sclerosis Complex Research
- Infectious Encephalopathies and Encephalitis
- Pharmaceutical studies and practices
- Polyomavirus and related diseases
- Autism Spectrum Disorder Research
- Fetal and Pediatric Neurological Disorders
- Diet, Metabolism, and Disease
- Hemoglobinopathies and Related Disorders
- Genetic and Kidney Cyst Diseases
- Amino Acid Enzymes and Metabolism
- Regulation of Appetite and Obesity
University of Chieti-Pescara
2013-2025
Ospedali Riuniti di Ancona
2019-2023
Hôpital Necker-Enfants Malades
2023
Assistance Publique – Hôpitaux de Paris
2023
Université Paris Cité
2023
ERN EpiCARE
2023
Hospices Civils de Lyon
2022
Hôpital Femme Mère Enfant
2022
King's College London
2022
Guy's and St Thomas' NHS Foundation Trust
2022
Abstract We report detailed functional analyses and genotype-phenotype correlations in 392 individuals carrying disease-causing variants SCN8A, encoding the voltage-gated Na+ channel Nav1.6, with aim of describing clinical phenotypes related to effects. Six different subgroups were identified: Group 1, benign familial infantile epilepsy (n = 15, normal cognition, treatable seizures); 2, intermediate 33, mild intellectual disability, partially pharmaco-responsive); 3, developmental epileptic...
<h3>Background and Objectives</h3> We sought to identify early factors associated with relapse outcome in paediatric-onset myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD). <h3>Methods</h3> In a multicenter retrospective cohort of pediatric MOGAD (≤18 years), onset features treatment were compared patients monophasic vs relapsing disease (including cases follow-up ≥12 months after or at any time) final Expanded Disability Status Scale (EDSS) 0 ≥1 last >3 event...
To report the presurgical workup, surgical procedures, and outcomes in a series of pediatric patients with drug-resistant epilepsy involving perisylvian/insular regions.We retrospectively assessed 16 affected by focal regions, who consecutively underwent tailored resective surgery. All detailed which included analysis anatomoelectroclinical correlations scalp electroencephalography (EEG) and/or stereo-electroencephalography (SEEG), brain magnetic resonance imaging (MRI), comprehensive...
Objective To describe the clinical and paraclinical findings, treatment options long-term outcomes in autoimmune encephalitis (AE), with a close look to epilepsy. Methods In this retrospective observational cohort study, we enrolled patients new-onset seizures context of AE. We compared findings without evidence antibodies. Results Overall, 263 (138 females; median age 55 years, range 4–86) were followed up for time 30 months (range 12–120). Antineuronal antibodies detected 63.50%....
This retrospective study assessed long-term effectiveness of add-on perampanel (PER) in patients with Lennox-Gastaut syndrome (LGS). Outcomes included time to PER failure and seizure relapse responders. was defined as either discontinuation or initiation another treatment. Seizure responders occurrence a seizure-free increase at least 50% average monthly frequency for those who were Eighty-seven included. Treatment occurred 52 (59.8%) subjects median 12 months. due lack efficacy 27 (52.0%)...
This real-world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort patients with epilepsy genetic etiology due an identified monogenic cause. Additionally, we examine potential relationship between specific subgroups and treatment response. was conducted across 27 centers included epileptic disorders (pathogenic or likely pathogenic variants) who were treated CBD for at least 3 months. A total 266 (135 females,...
Aim To identify factors that may predict and affect the risk of relapse in anti‐N‐methyl‐D‐aspartate receptor ( NMDAR ) encephalitis. Method This was a retrospective study an Italian cohort patients with paediatric (≤18y) onset anti‐ Results Of 62 children included (39 females; median age at 9y 10mo, range 1y 2mo–18y; between 2005 2018), 21 per cent relapsed (median two total events relapsing patient, 2–4). Time to first 31.5 months (range 7–89mo). Severity lower than modified Rankin Scale [...