Pierangelo Veggiotti
A5076284962- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Diet and metabolism studies
- Genetics and Neurodevelopmental Disorders
- Neuroscience and Neuropharmacology Research
- Pharmacological Effects and Toxicity Studies
- Glycogen Storage Diseases and Myoclonus
- Neonatal and fetal brain pathology
- Multiple Sclerosis Research Studies
- Fetal and Pediatric Neurological Disorders
- Genomics and Rare Diseases
- Ion channel regulation and function
- EEG and Brain-Computer Interfaces
- Diet, Metabolism, and Disease
- Neurological disorders and treatments
- Systemic Lupus Erythematosus Research
- Bacterial Infections and Vaccines
- Metabolism, Diabetes, and Cancer
- RNA regulation and disease
- interferon and immune responses
- Sleep and Wakefulness Research
- Long-Term Effects of COVID-19
- Advanced Neuroimaging Techniques and Applications
- Functional Brain Connectivity Studies
- Infectious Encephalopathies and Encephalitis
University of Milan
2016-2025
Ospedale dei Bambini Vittore Buzzi
2018-2025
Luigi Sacco Hospital
2018-2023
Children's Hospital
2023
Istituto delle Scienze Neurologiche di Bologna
2023
University of Verona
2023
University of Bologna
2023
University of Parma
2023
ASST Fatebenefratelli Sacco
2019-2022
Hôpital Civil, Strasbourg
2022
Summary Ketogenic dietary therapies ( KDTs ) are established, effective nonpharmacologic treatments for intractable childhood epilepsy. For many years were implemented differently throughout the world due to lack of consistent protocols. In 2009, an expert consensus guideline management children on KDT was published, focusing topics patient selection, pre‐ counseling and evaluation, diet choice attributes, implementation, supplementation, follow‐up, side events, discontinuation. It has been...
The ketogenic diet (KD) is an established, effective nonpharmacologic treatment for intractable childhood epilepsy. KD provided differently throughout the world, with occasionally significant variations in its administration. There exists a need more standardized protocols and management recommendations clinical research use. In December 2006, Charlie Foundation commissioned panel comprised of 26 pediatric epileptologists dietitians from nine countries particular expertise using KD. This...
Periventricular heterotopia (PH) occurs when collections of neurons lay along the lateral ventricles or just beneath. Human Filamin A gene (FLNA) mutations are associated with classical X-linked bilateral periventricular nodular (PNH), featuring contiguous heterotopic nodules, mega cisterna magna, cardiovascular malformations and epilepsy. FLNA encodes an F-actin-binding cytoplasmic phosphoprotein is involved in early brain neurogenesis neuronal migration. rare, recessive form PNH...
Glut1 deficiency syndrome (Glut1DS) is a brain energy failure caused by impaired glucose transport across tissue barriers. Glucose diffusion barriers facilitated family of proteins including transporter type 1 (Glut1). Patients are treated effectively with ketogenic diet therapies (KDT) that provide supplemental fuel, namely ketone bodies, for metabolism. The increasing complexity Glut1DS, since its original description in 1991, now demands an international consensus statement regarding...
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...
<b><i>Objectives:</i></b><i>SCN1A</i> mutations were recently reported in several patients with severe myoclonic epilepsy infancy (SMEI). The authors analyzed <i>SCN1A</i> 93 SMEI and made genotype-phenotype correlation to clarify the role of this gene etiology SMEI. <b><i>Methods:</i></b> All fulfilled criteria for all using denaturing high performance liquid chromatography. If a patient's chromatogram was abnormal, sequenced patient both parents. <b><i>Results:</i></b><i>SCN1A</i>...
To define the clinical, radiologic, and genetic features of periventricular heterotopia (PH) with Ehlers-Danlos syndrome (EDS).Exonic sequencing single stranded conformational polymorphism (SSCP) analysis was performed on affected individuals. Linkage using microsatellite markers X-chromosome a pedigree. Western blotting evaluated for loss filamin A (FLNA) protein Southern assessed any potential chromosome rearrangement in this region.The authors report two familial cases nine additional...
<b>Objective: </b> We used voxel-based morphometry (VBM) to assess the pattern of regional gray matter (GM) loss in patients with pediatric multiple sclerosis (MS) and its relation Expanded Disability Status Scale (EDSS) score, disease duration, extent T2 lesion load (LL). <b>Methods: From 28 relapsing-remitting MS (16 girls; mean age = 14.4 years, range 7 16 years) 21 matched controls, dual-echo three-dimensional T1-weighted magnetization prepared rapid acquisition gradient echo sequences...
To delineate the electroclinical features of SCN8A infantile developmental and epileptic encephalopathy (EIEE13, OMIM #614558).Twenty-two patients, aged 19 months to 22 years, underwent assessment.Sixteen patients had mildly delayed development since birth. Drug-resistant epilepsy started at a median age 4 months, followed by slowing, pyramidal/extrapyramidal signs (22/22), movement disorders (12/22), cortical blindness (17/22), sialorrhea, severe gastrointestinal symptoms (15/22), worsening...
Recently, de novo mutations in the gene KCNA2, causing either a dominant-negative loss-of-function or gain-of-function of voltage-gated K+ channel Kv1.2, were described to cause new molecular entity within epileptic encephalopathies. Here, we report cohort 23 patients (eight previously described) with encephalopathy carrying novel known KCNA2 mutations, aim detail clinical phenotype associated each them, characterize functional effects newly identified and assess genotype-phenotype...
Background Interest in animal-assisted therapy has been fuelled by studies supporting the many health benefits. The purpose of this study was to better understand impact an program on children response stress and pain immediate post-surgical period. Patients Methods Forty (3–17 years) were enrolled randomised open-label, controlled, pilot study. randomly assigned therapy-group (n = 20, who underwent a 20 min session with dog, after surgery) or standard-group standard postoperative care)....
Summary Purpose: To clarify the role of epilepsy and genetic background in determining cognitive outcome patients with Dravet syndrome. Methods: In this retrospective study, we reviewed clinical history development 26 who had been followed standardized evaluations since seizure onset. The was quantified as differential general quotient (dGQ) between ages 12 60 months. Statistical analysis correlated dGQ genotype course. Key Findings: Epilepsy started at mean age 5.6 All experienced prolonged...
Photosensitivity is a heritable abnormal cortical response to flickering light, manifesting as particular electroencephalographic changes, with or without seizures. prominent in very rare epileptic encephalopathy due de novo CHD2 mutations, but also seen encephalopathies other gene mutations. We determined whether variation underlies photosensitivity common epilepsies, specific photosensitive epilepsies and individuals studied 580 epilepsy either seizures photoparoxysmal on...
Summary Purpose To dissect the genetics of benign familial epilepsies first year life and to assess extent genetic overlap between neonatal seizures ( BFNS ), neonatal‐infantile BFNIS infantile BFIS ). Methods Families with at least two first‐degree relatives affected by focal starting within normal development before seizure onset were included. classified as when all family members experienced seizures, in was 1 4 months age or showed both after members. SCN 2A, KCNQ 2, 3, PPRT 2 point...
EXamining everolimus In a Study of Tuberous sclerosis 3 (EXIST-3) demonstrated significantly reduced seizure frequency (SF) with vs placebo. this study, we evaluate the long-term efficacy and safety for tuberous complex (TSC)-associated treatment-refractory seizures.After completion core phase, patients could enter an open-label extension phase receive (target exposure, 3-15 ng/mL) ≥48 weeks. Efficacy end points included change from baseline in average weekly SF expressed as response rate...
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...
Abstract Objectives Developmental and epileptic encephalopathies (DEEs) caused by pathogenic variants in SCN8A are associated with difficult‐to‐treat early‐onset seizures, developmental delay/intellectual disability, impaired quality of life, increased risk early mortality. High doses sodium channel blockers typically used to treat SCN8A‐ DEE gain‐of‐function (GoF) variants. However, seizures often drug resistant, only a few patients achieve seizure freedom. In this retrospective study, the...