A5068605744- Epilepsy research and treatment
- Pharmacological Effects and Toxicity Studies
- Neonatal and fetal brain pathology
- Genetics and Neurodevelopmental Disorders
- Fetal and Pediatric Neurological Disorders
- Neurological and metabolic disorders
- Metabolism and Genetic Disorders
- Neonatal Respiratory Health Research
- Autism Spectrum Disorder Research
- Connective tissue disorders research
- Neuroscience and Neuropharmacology Research
- RNA regulation and disease
- Bone fractures and treatments
- Hip and Femur Fractures
- Cerebral Palsy and Movement Disorders
- Advanced Chemical Sensor Technologies
- Cardiac Ischemia and Reperfusion
- Phonocardiography and Auscultation Techniques
- Skin and Cellular Biology Research
- Genetic and rare skin diseases.
- Infant Development and Preterm Care
- EEG and Brain-Computer Interfaces
- Advanced Materials and Mechanics
- Electroconvulsive Therapy Studies
- Genomics and Rare Diseases
Istituti di Ricovero e Cura a Carattere Scientifico
2023-2024
Azienda Ospedaliera San Gerardo
2021-2024
University of Milano-Bicocca
2022-2024
Azienda Ospedaliera Ospedale Maggiore
2015-2018
Università degli Studi del Piemonte Orientale “Amedeo Avogadro”
2007-2018
Azienda Ospedaliero Universitaria Maggiore della Carita
2007-2018
Ospedale Maggiore
2010-2017
Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico
2010-2015
ETH Zurich
2014
Institute of Neurological Sciences
1995
The rate of chronic drooling in children older than 4 years is 0.5%, but it rises to 60% those with neurological disorders. Physical and psychosocial consequences lead a reduction the quality Life (QoL) affected patients; however, problem remains under-recognized under-treated. We conducted an Italian consensus through modified Delphi survey discuss current treatment paradigm pediatric patients disorders.After reviewing literature, board 10 experts defined some statements be administered...
Mutations in the Kir6.2 subunit (KCNJ11) of ATP-sensitive potassium channel (KATP) underlie neonatal diabetes mellitus. In severe cases, mutations developmental delay, epilepsy, and (DEND). All examined decrease ATP inhibition KATP, which is predicted to suppress electrical activity neurons (peripheral central), muscle, pancreas. Inhibitory sulfonylureas (SUs) have been used successfully treat patients with activating mutations. There are two reports improved neurological features SU-treated...
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%)...
Background: Neurodevelopmental disorders comprise a clinically and genetically heterogeneous group of conditions that affect 2%-5% children represents public health challenge due to complexity the etiology. Only few patients with unexplained syndromic non-syndromic NDDs receive diagnosis through first-tier genetic tests as array-CGH search for FMR1 CGG expansion. The aim this study was evaluate clinical performance targeted next-generation sequencing (NGS) gene panel second-tier test in...
ObjectiveWe aimed to evaluate epidemiology, seizure type, EEG, and etiology of neonatal seizures (NS) in a tertiary intensive care unit.MethodsData on infants with neurophysiological confirmation NS were collected between 2009 2022. Seizure types epileptic syndromes classified by the ILAE classification EEG Italian Neonatal Collaborative Network (INNESCO) score.ResultsOut 91,253 neonates, 145 presented NS; 69.7 % born at term 30.3 preterm infants. The incidence neonates our center was 1.2...
The influence of physiological and methodological factors on recordings brainstem auditory evoked potentials (BAEPs) is greater in children than adults.To collect evaluate BAEP data normal children, measure intra- inter-laboratory variability.Seven hundred fifty unselected were collected evaluated from ranging neonates to 14-year-olds by eight laboratories Italy.In newborns, three showed satisfactory concordance; wave I was more broadly distributed V IPL I-V. evaluation pooled the older that...
Non-epileptic attacks (NEAs) are a heterogeneous group of clinical entities which often complicate the differential diagnosis epilepsy. NEAs usually have benign course and limited to specific period life. If motor manifestations strongly suggestive an epileptic phenomenon, risk misdiagnosis is greater. Here, we describe novel NEA with infantile onset, characterised by repeated head drops, mimicking negative myoclonus neck. The frequency episodes was very high, at hundreds or thousands per...
Additional supporting information may be found in the online version of this article at publisher's web-site. Figure S1: (left) Electropherograms demonstrating wild type (wt) sequence both parents, and presence c.302G>A mutation two sibs, (patient G upper row); (right) pedigree family as affected children inherited same haplotype from mother. Please note: The publisher is not responsible for content or functionality any supplied by authors. Any queries (other than missing content) should...
Citalopram intoxications can lead to Serotonin Syndrome (SS) development, characterized by altered mental status, seizures, autonomic instability, hyperthermia and extrapyramidal signs. We review the literature about pediatric acute citalopram intoxications, we report a case of severe SS in an infant associated Posterior Reversible Encephalopathy (PRES) treated with cyproheptadine as antidote. An adequate12-month-old girl displayed sudden global neurological regression hypotonia, prolonged...
Background. Hypoxic-ischemic encepha-lopathy (HIE) is a leading cause of dis-ability in full-term newborns. Long-term consequences HIE, even when treated by hypothermia, are not easily predictable. Aims. To assess the potential role elec-troencephalography and neuroimaging parameters as early predictors neurode-velopmental outcome HIE newborns with hypothermia.Methods. We retrospectively evaluated 13 patients hypothermia January 2012-September 2014. re-viewed their amplitude-integrated...
Systolic and diastolic blood pressure, heart rate, circulating levels of catecholamines cyclic AMP were measured during the handgrip test in 18 borderline hypertensive patients, 22 stable 20 normotensive control subjects. No difference was observed, at rest, for plasma noradrenaline, adrenaline, dopamine, among three groups. During percentage increase significantly more elevated with respect to subjects but not when compared those patients. These results are agreement hypothesis that both...