A5041655657- Diet and metabolism studies
- interferon and immune responses
- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Diet, Metabolism, and Disease
- Systemic Lupus Erythematosus Research
- Genomics and Rare Diseases
- RNA Research and Splicing
- Advancements in Transdermal Drug Delivery
- Neonatal and fetal brain pathology
- Genomic variations and chromosomal abnormalities
- Pharmacological Effects and Toxicity Studies
- Inflammasome and immune disorders
- Herpesvirus Infections and Treatments
- Pharmaceutical studies and practices
- Neuroscience and Neuropharmacology Research
- Cannabis and Cannabinoid Research
- Nutrition, Genetics, and Disease
- Sleep and Wakefulness Research
- Botulinum Toxin and Related Neurological Disorders
- Biochemical effects in animals
- Fetal and Pediatric Neurological Disorders
- Circular RNAs in diseases
- Ocular Diseases and Behçet’s Syndrome
University of Pavia
2019-2025
Urology Foundation
2024
Istituti di Ricovero e Cura a Carattere Scientifico
2018-2024
European Centre for Training and Research in Earthquake Engineering
2021
Fondazione Istituto Neurologico Nazionale Casimiro Mondino
2016-2019
Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies variable severity. Furthermore, few patients intellectual disability (ID) or movement disorders without reported. The vast majority the published suffer severe developmental and encephalopathy (DEE). In this study, we aimed provide further insight on milder SCN8A-related epilepsies.A cohort 1095 were screened using...
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...
Abstract Introduction Glucose Transporter Type I Deficiency Syndrome ( GLUT 1 DS ) classical symptoms are seizures, involuntary movements, and cognitive impairment but so far the literature has not devoted much attention to last. Methods In our retrospective study involving 25 patients with established diagnosis, we describe of these in detail their response ketogenic diet terms improvement. Results We outlined a specific profile where performance skills were more affected than verbal ones,...
The objective of this study was to evaluate care needs, emotional and behavioral changes, parental stress indices in a cohort pediatric patients with epilepsy neurocognitive comorbidities at the time coronavirus disease 2019 (COVID-19) pandemic.This is prospective observational involving comorbidities. Included were admitted our hospital between August February 2020 for neuropsychiatric assessment, Child Behavior Checklist (CBCL) questionnaires filled by parents. Those their families...
The classic ketogenic diet (cKD) requires constant nutritional monitoring over time both to ensure its effectiveness and reduce the likelihood of short- long-term adverse effects. We retrospectively described use remote by e-mail during first year follow-up on cKD in 34 children (47% males; age range: 2−17 years) diagnosed with drug-resistant epilepsy (DRE; n = 14) or glucose transporter type 1 deficiency syndrome (GLUT1-DS; 20). All e-mails were evaluated analyzing their frequency content...
Abstract The implementation and potential of ketogenic dietary therapies (KDTs) have changed over time. organization KDT services, the availability multidisciplinary teams, resources support for patients families still vary widely around world. This diversity is reflected by a lack consistency in reported outcomes, optimization using compliance. To highlight unmet needs ERN EpiCARE Ketogenic Dietary Therapy Special Interest Group (KDT SIG) conducted an online survey on utilization,...
Introduction Children with septo-optic-pituitary dysplasia (SOD) may experience a range of visual impairments and hormonal dysfunctions beyond developmental delay/intellectual disability. The literature describes sleep fragmentation, circadian rhythm disruptions reduced efficiency. These manifestations are believed to be closely linked both structural functional abnormalities associated SOD, potentially disrupting the natural rhythm. Both anomalies in midline brain structures decreased input...
Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that caused by an insufficient transport of glucose into the brain. It mutation in SCL2A1 gene, which so far only known to be associated with this condition. consists wide clinical spectrum usually presents cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia different combinations. However,...
Aicardi-Goutières Syndrome (AGS) is a rare neuro-inflammatory disease characterized by increased expression of interferon-stimulated genes (ISGs). Disease-causing mutations are present in associated with innate antiviral responses. Disease presentation and severity vary, even between patients identical from the same family. This study investigated DNA methylation signatures PBMCs to understand phenotypic heterogeneity AGS RNASEH2B. presented hypomethylation ISGs differential patterns (DMPs)...
A stepwise increase in the utilization of ketogenic dietary therapies for drug-resistant epilepsy has been observed Italy last decade, although it is still considered often underused many centers when compared to other countries. The Dietary Therapy Study Group Italian League against Epilepsy proposes practical recommendations improve shared knowledge and facilitate application therapies, optimizing its efficacy tolerability. experts involved (11 child neuropsychiatrists, two adult...
Glucose transporter type 1 deficiency syndrome (GLUT1DS) is a rare, genetically determined neurological disorder, for which Ketogenic Diet (KD) represents the gold standard life-long treatment. The aim of this study to investigate health related quality life in well characterized cohort patients affected by GLUT1DS treated with KD, evaluating factors that can influence patients' and parents' perception. This double center exploratory research study. A postal survey auto-administrable...
Sleep plays a crucial role in brain development, sensory information processing, and consolidation. spindles are markers of these mechanisms as they mirror the activity thalamocortical circuits. Spindles can be subdivided into two groups, slow (10-13 Hz) fast (13-16 Hz), which each associated with different functions. Specifically, oscillate high-sigma band sensorimotor is affected by visual deprivation. However, how blindness influences spindle development has not yet been investigated. We...
Cannabidiol is a novel antiseizure medication approved in Europe and the US for treatment of seizures associated with Lennox-Gastaut syndrome, Dravet syndrome tuberous sclerosis complex. We describe this article new simple liquid chromatography-mass spectrometry method (LC-MS/MS) determination cannabidiol its active metabolite 7-hydroxy-cannabidiol microvolumes serum saliva (50 μl), to be used as tool therapeutic drug monitoring (TDM) pharmacokinetic studies. After on-line solid phase...
This study aimed to describe the intellectual profile based on Wechsler Intelligence Scale for Children 4th edition (WISC-IV) in children with self-limited epilepsy centrotemporal spikes (SeLECTS), an attempt define possible predictive epilepsy-related variables of cognitive performance.The WISC-IV was assessed 161 SeLECTS and their profiles were compared a matched sample healthy control children.Children performed within normal range across all indices, demonstrating particular strength...
Abstract Background GLUT1 deficiency syndrome is a rare, genetically determined neurological disorder for which Ketogenic Dietary Treatment represents the gold standard and lifelong treatment. Patient registries are powerful tools providing insights real-world data on rare diseases. Objective To describe implementation of national web-based registry GLUT1-DS. Methods This retrospective prospective, multicenter, observational developed in collaboration with Italian GLUT1-DS association based...
The objective of this study was to validate a novel assay using the volumetric absorptive microsampling (VAMS) technique combined with liquid chromatography coupled tandem mass spectrometry (LC-MS/MS) for determination antiseizure medication perampanel in saliva and its clinical applicability patients epilepsy. VAMS tips were loaded 30 μL dried 60 min. Analytes extracted methanol. supernatant evaporated under gentle stream nitrogen reconstituted Separation quantification achieved on...
Aicardi-Goutières syndrome (AGS) is a rare encephalopathy characterized by neurological and immunological features. Mitochondrial dysfunctions may lead to mitochondrial DNA (mtDNA) release consequent immune system activation. We investigated the role of mitochondria mtDNA in AGS pathogenesis studying patients mutated RNASEH2B RNASEH2A genes. Lymphoblastoid cell lines (LCLs) from RNASEH2A- RNASEH2B-mutated healthy control were used. Transmission Electron Microscopy (TEM) flow cytometry used...