A5031053480- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Pharmacological Effects and Toxicity Studies
- Tuberous Sclerosis Complex Research
- Genomic variations and chromosomal abnormalities
- Neuroscience and Neuropharmacology Research
- Autism Spectrum Disorder Research
- Genomics and Rare Diseases
- Polyomavirus and related diseases
- Child Nutrition and Feeding Issues
- Neurological disorders and treatments
- Neonatal and fetal brain pathology
- Genetic and Kidney Cyst Diseases
- Glycogen Storage Diseases and Myoclonus
- Family and Disability Support Research
- Fetal and Pediatric Neurological Disorders
- Psychosomatic Disorders and Their Treatments
- Gut microbiota and health
- Histiocytic Disorders and Treatments
- Infectious Encephalopathies and Encephalitis
- Pregnancy and Medication Impact
- Genomics and Chromatin Dynamics
- RNA regulation and disease
- RNA modifications and cancer
- Ion channel regulation and function
University of Milan
2016-2025
Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda
2021-2025
Ospedale San Paolo
2014-2024
Azienda Socio Sanitaria Territoriale Santi Paolo e Carlo
2018-2024
Ospedale Maggiore
2022
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2022
University of Genoa
2022
Cognitive Research (United States)
2022
VIB-UAntwerp Center for Molecular Neurology
2022
University of Antwerp
2022
The incidence of malformations among infants mothers with epilepsy treated antiepileptic drugs (AEDs) during pregnancy is higher than that found in the general population. aim this study was to contribute providing a definition rate congenital anomalies offspring and detect possible risk factors.Since 1977, 517 pregnancies were followed up at San Paolo Hospital Milan by team epileptologists obstetricians. patients received monthly obstetric neurologic examinations, blood levels AEDs tested...
Abstract Myoclonus classically presents as a brief (10–50 ms duration), non‐rhythmic jerk movement. The etiology could vary considerably ranging from self‐limited to chronic or even progressive disorders, the latter falling into encephalopathic pictures that need prompt diagnosis. Beyond etiological classification, others evaluate myoclonus' body distribution (i.e., clinical classification) location of generator neurophysiological classification); particularly, knowing anatomical source...
The aim of the present study was to investigate possible frontal cognitive dysfunction in patients with juvenile myoclonic epilepsy (JME) and compare results those lobe (FLE) temporal (TLE), as well controls.A total 50 JME, 40 FLE, TLE, normal controls, all matched for age, education, IQ, were administered tests assess functions (the Word Fluency Test Wisconsin Card Sorting [WCST]). All participants had a intelligence level based on Wechsler Adult Intelligence Scale, did not take medications...
Neuropsychiatric disorders are present in up to 90 % of patients with Tuberous Sclerosis Complex (TSC), and represent an important issue for families. Autism Spectrum Disorder (ASD) is the most common neurobehavioral disease, affecting 61 patients. The aims this study were: 1) assess prevalence ASD a TSC population; 2) describe severity ASD; 3) identify potential risk factors associated development We selected 42 individuals over age 4 years definite diagnosis followed at clinic Northern...
Rett syndrome (RTT) is an X-linked neurodevelopmental disorder affecting 1 in 10,000 live female births. Changes microbiota composition, as observed other neurological disorders such autism spectrum disorders, may account for several symptoms typically associated with RTT. We studied the relationship between disease phenotypes and microbiome by analyzing diet, gut microbiota, short-chain fatty acid (SCFA) production. enrolled eight RTT patients 10 age- sex-matched healthy women, all without...
Tuberous sclerosis complex (TSC) is a genetic disorder with an incidence of 1:6000 live births and associated the development benign tumors in several organs. It also characterized by high rates neurological neuropsychiatric abnormalities, including epilepsy affecting 70–90% patients being one major risk factors intellectual disability. The first seizures TSC appear usually between 4th 6th months life. Recent studies have shown beneficial role preventative antiepileptic treatment patients,...
To investigate the functional and structural brain correlates of eyelid myoclonus absence seizures triggered by eye closure (eye sensitivity [ECS]).Fifteen patients with absences (EMA, Jeavons syndrome), 14 idiopathic generalized epilepsies (IGE) without ECS, 16 healthy controls (HC) underwent an electroencephalography (EEG)-correlated magnetic resonance imaging (fMRI) voxel morphometry (VBM) protocol. The study consisted 30-second epochs eyes-open eyes-closed conditions. following EEG...
Pathogenic STXBP1 variants cause a severe early-onset developmental and epileptic encephalopathy (STXBP1-DEE). We aimed to investigate the natural history of STXBP1-DEE in adults focusing on seizure evolution, presence movement disorders, level functional (in)dependence. In this observational study, patients with minimum age 18 years carrying (likely) pathogenic variant were recruited through medical genetics departments epilepsy centers. Treating clinicians completed clinical questionnaires...
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...
The genetic causes of epilepsies and developmental epileptic encephalopathies (DEE) with onset in early childhood are increasingly recognized. Their outcomes vary from benign to severe disability. In this paper, we wished retrospectively review the clinical, genetic, EEG, neuroimaging, outcome data patients experiencing epilepsy first three years life, diagnosed followed up four Italian centres (Epilepsy Centre San Paolo University Hospital Milan, Child Neurology Psychiatry Unit AUSL-IRCCS...
Inherited glycosylphosphatidylinositol deficiency disorders (IGDs) are a group of rare multisystem arising from pathogenic variants in anchor pathway (GPI-AP) genes. Despite associating 24 at least 31 GPI-AP genes with human neurogenetic disease, prior reports limited to single without consideration the as whole and natural history data. In this multinational retrospective observational study, we systematically analyse molecular spectrum, phenotypic characteristics 83 individuals 75 unique...
Prevalence and long-term outcome of epilepsy in tuberous sclerosis complex (TSC) is reported to be variable, the reasons for this variability are still controversial.We reviewed clinical characteristics patients with TSC who were regularly followed since 2000 at San Paolo Multidisciplinary Tuberous Sclerosis Centre Milan, Italy. From patient charts we collected data about age onset, seizure frequency type, history infantile spasms (IS), epileptic syndrome, evolution refractory or freedom...
Summary This study aimed to evaluate the prevalence and relationship of sleep breathing disorders ( SBD s) laryngeal motility alterations in patients with drug‐resistant epilepsy after vagus nerve stimulator VNS ) implantation. Twenty‐three consecutive medically refractory underwent out‐of‐center testing before Eighteen eligible subjects endoscopic examination post‐ Statistical analysis was carried out assess an association between onset/worsening s. After implantation, 11 showed a new‐onset...
Summary Objective Rett syndrome is an X‐linked dominant neurodevelopmental disorder caused by mutations in the MECP 2 gene, and characterized cognitive communicative regression, loss of hand use, midline stereotypies. Epilepsy a core symptom, but literature controversial regarding genotype–phenotype correlation. Analysis data from large cohort should overcome this shortcoming. Methods Data Syndrome Networked Database on 1,248 female patients were included. phenotypic genotypic parameters,...
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%)...
To gain new insights into the clinical presentation, causes, treatment and prognosis of epilepsia partialis continua (EPC), to develop hypotheses be tested in a prospective investigation.In this retrospective multicenter study, all cases were included that fulfilled these criteria: constantly repeated fragments epileptic seizures, with preserved consciousness, lasting ≥ 1 h representing locally restricted motor or sensory activity. Single episodes when they lasted for minimum day. EPC...
Rett spectrum disorder is a progressive neurological disease and the most common genetic cause of intellectual disability in females. MECP2 major causative gene. In addition, CDKL5 FOXG1 mutations have been reported patients, especially with atypical presentation. Each gene different within each contribute to variability clinical presentation, several groups worldwide performed genotype-phenotype correlation studies using cohorts patients classic forms disorder. The Networked Database...
The use of tele-rehabilitation in children was limited before the COVID-19 pandemic, due to culture, technology access, regulatory and reimbursement barriers.The study conducted according CHERRIES (Checklist for reporting results internet E-surveys) guidelines order provide quantitative qualitative data about experience patients with disabilities their caregivers during Phase 1 level satisfaction. An online survey developed using Google Forms sent via email. outcome measures were rated a...