A5064355751- Epilepsy research and treatment
- Autism Spectrum Disorder Research
- Child Nutrition and Feeding Issues
- Eating Disorders and Behaviors
- Genetics and Neurodevelopmental Disorders
- Pharmacological Effects and Toxicity Studies
- Fetal and Pediatric Neurological Disorders
- Obsessive-Compulsive Spectrum Disorders
- Glycogen Storage Diseases and Myoclonus
- EEG and Brain-Computer Interfaces
- Neuroscience and Neuropharmacology Research
- Diet and metabolism studies
- Attention Deficit Hyperactivity Disorder
- Neonatal and fetal brain pathology
- Genomic variations and chromosomal abnormalities
- Child Development and Digital Technology
- Metabolism and Genetic Disorders
- Sleep and Wakefulness Research
- Educational and Social Studies
- Cerebrospinal fluid and hydrocephalus
- Adrenal Hormones and Disorders
- Obesity, Physical Activity, Diet
- Congenital heart defects research
- Mitochondrial Function and Pathology
- Language Development and Disorders
University of Bologna
2016-2025
Istituto delle Scienze Neurologiche di Bologna
2013-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2013-2024
Institute of Neurological Sciences
1995-2024
Policlinico S.Orsola-Malpighi
2014-2023
University of Genoa
2022
Cognitive Research (United States)
2022
Centre de Recherche en Neurosciences de Lyon
2017
Fondazione Stella Maris
1998-2016
Azienda Ospedaliera Universitaria Pisana
2016
Abstract The “band heterotopia” or “double cortex” is a brain anomaly that presumed to result from premature arrest of neuronal migration. Patients with this are reported have variable clinical course has been, heretofore, unpredictable. records and magnetic resonance (MR) imaging studies 27 patients band heterotopia were retrospectively reviewed in an attempt determine whether findings useful predicting outcome affected patients. Statistical analyses revealed the following corelations: (1)...
Migraine is a common disorder in childhood and adolescence. Studies on adults show the effectiveness tolerability of riboflavin migraine prevention, while data children are scarce. This retrospective study reports our experience using for prophylaxis 41 pediatric adolescent patients, who received 200 or 400 mg/day single oral dose 3, 4 6 months. Attack frequency intensity decreased (P < 0.01) during treatment, these results were confirmed follow-up. A large number patients (77.1%) reported...
Patients with cortical malformations often have intractable seizures and are candidates for epilepsy surgery. Within an unselected series of patients various forms malformation, nine multilobar polymicrogyria had electrical status epilepticus during sleep (ESES) accompanied by infrequent focal motor seizures. Eight also atonic drop attack Because ESES usually is a good long-term seizure prognosis, the objective this study was to examine outcome among structural lesion that highly...
Two familial X-linked dominant syndromes of cortical maldevelopment have recently been described: double cortex/lissencephaly syndrome and bilateral periventricular nodular heterotopia. We report on 12 kindreds with perisylvian polymicrogyria (FPP) presenting at 10 centers, examine the clinical presentation in these cases, propose a possible mode inheritance. The radiological pattern was variable among 42 patients, differences families even within members same family. Pseudobulbar signs,...
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...
Contribution to epileptic encephalopathy (EE) of mutations in CACNA2D2, encoding α2δ-2 subunit Voltage Dependent Calcium Channels, is unclear. To date only one CACNA2D2 mutation altering channel functionality has been identified a single family. In the same family, rare CELSR3 polymorphism also segregated with disease. Involvement EE therefore not confirmed, while that questionable. patient epilepsy, dyskinesia, cerebellar atrophy, psychomotor delay and dysmorphic features, offspring...
The relationship between sensory profile and repetitive behaviours in autism spectrum disorder (ASD) has long been known. However, there is no consensus on the type of that exists them. This monocentric retrospective–prospective observational study aimed (a) to detect a clinical correlation severity alterations sample 50 children diagnosed with ASD; (b) evaluate how different patterns stereotypies correlate each other main clinical–instrumental variables same sample. We enrolled 29...
Recent research has documented the potential associations existing between use of social media (SM) and occurrence/development treatment Eating Disorders (ED). However, literature directly addressing SM TikTok among children adolescents with ED is still scarce.In January-February 2021, during second Italian national lockdown due to SARS-CoV-2 pandemic, an anonymous paper survey was conducted in third-level center for childhood adolescence. Demographics, frequency TikTok, frequently viewed...
Clinical manifestations in STXBP1 developmental and epileptic encephalopathy (DEE) vary severity outcome, the genotypic spectrum is diverse. We aim to trace neurodevelopmental trajectories individuals with STXBP1-DEE dissect relationship between neurodevelopment epilepsy.Retrospective standardized clinical data were collected through international collaboration. A composite score system compared STXBP1-DEE.Forty-eight patients de novo variants a history of epilepsy included (age range at...
Report13 April 2015Open Access Homozygous NOTCH3 null mutation and impaired signaling in recessive early-onset arteriopathy cavitating leukoencephalopathy Tommaso Pippucci U.O. Genetica Medica, Policlinico Sant'Orsola-Malpighi, Bologna, Italy Dipartimento di Scienze Mediche Chirurgiche (DIMEC), University of Search for more papers by this author Alessandra Maresca IRCCS Istituto delle Neurologiche Unita' Neurologia, Biomediche e Neuromotorie (DIBINEM), Pamela Magini Giovanna Cenacchi...
Feeding and Eating Disorders (FEDs) constitute a complex spectrum of psychiatric conditions, impacting physical psychosocial well-being. This retrospective observational study aimed to dissect the electrocardiographic (ECG) alterations in pediatric patients with FEDs, correlating them clinical factors, treatment modalities, Refeeding Syndrome (RS) reversibility ECG abnormalities post-treatment. Analyzing records from third level Italian Regional Center for FEDs children adolescents,...
Summary Purpose: To disclose clinical, electrophysiologic, and neuroradiologic factors correlated to prognosis in patients with mesial temporal lobe epilepsy (MTLE). Methods: One hundred thirty‐six MTLE were studied for family history, clinical characteristics, instrumental data [electroencephalography (EEG), video‐EEG, neuroimaging], outcome. The population was divided into drug‐resistant (DR: 108 patients, 79.4%) non–drug‐resistant (NDR: 28 20.6%) groups; all variables analyzed the two...
Abstract Intellectual disability ( ID ) and autism spectrum disorders ASD s) are complex neuropsychiatric conditions, with overlapping clinical boundaries in many patients. We identified a novel intragenic deletion of maternal origin two siblings mild epilepsy the CADPS 2 gene, encoding for synaptic protein involved neurotrophin release interaction dopamine receptor type (D2 DR ). Mutation screening 223 additional patients (187 36 missense change disrupting 2/D2 interaction. allelic...