A5033830499- Epilepsy research and treatment
- Neonatal and fetal brain pathology
- Genetics and Neurodevelopmental Disorders
- Hereditary Neurological Disorders
- Neonatal Respiratory Health Research
- Neurological diseases and metabolism
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Genetic Neurodegenerative Diseases
- Infant Development and Preterm Care
- Mitochondrial Function and Pathology
- Neurogenetic and Muscular Disorders Research
- Infectious Encephalopathies and Encephalitis
- Congenital heart defects research
- RNA regulation and disease
- Fetal and Pediatric Neurological Disorders
- Pharmacological Effects and Toxicity Studies
- Amino Acid Enzymes and Metabolism
- Cellular transport and secretion
- Bacterial Infections and Vaccines
- Autism Spectrum Disorder Research
- Ion channel regulation and function
- Neuroscience and Neuropharmacology Research
- Blood Coagulation and Thrombosis Mechanisms
- Glycogen Storage Diseases and Myoclonus
Presidio Ospedaliero
2019-2025
Azienda Sanitaria Unità Locale di Reggio Emilia
2018-2025
Istituti di Ricovero e Cura a Carattere Scientifico
2016-2025
Santa Maria Nuova Hospital
2016-2024
Ospedale Santa Maria
2015-2024
Deleted Institution
2021
University of Pavia
2020
Santa Maria Nuova Hospital
2015-2019
University of Parma
2013-2018
Marche Polytechnic University
2015-2016
Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels control neuronal excitability and their dysfunction has been linked to epileptogenesis but few individuals with neurological disorders related variants altering HCN have reported so far. In 2014, we described five epileptic encephalopathy due de novo HCN1 variants. To delineate HCN1-related investigate genotype–phenotype correlations further, assembled a cohort of 33 unpublished patients novel pathogenic or likely variants:...
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...
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 Objective The Education and Career Task Force of the Young Epilepsy Section‐Italy focuses on educational career development needs young Italian epileptologists. Two surveys were developed (pre‐ post COVID‐19 pandemic) in order to identify members Lega Italiana Contro l'Epilessia under 40 years age. Methods first was distributed during 42nd National Congress (Rome, June 5–7, 2019); second 45th (Padova, 8–10, 2022) subsequently by e‐mail until July 9, 2022. Data from 2019 survey...
The authors declare that they have no competing interests. data support the findings of this study are available on request from corresponding author. not publicly due to privacy or ethical restrictions. Data S1. S2. Please note: publisher is responsible for content functionality any supporting information supplied by authors. Any queries (other than missing content) should be directed author article.
Background Phenobarbital is the first-line choice for neonatal seizures treatment, despite a response rate of approximately 45%. Failure to respond acute anticonvulsants associated with poor neurodevelopmental outcome, but knowledge on predictors refractoriness limited. Objective To quantify phenobarbital and establish variables predictive its lack efficacy. Methods We retrospectively evaluated newborns electrographically confirmed admitted between January 1999 December 2012 intensive care...
Abstract Background Aromatic L-amino acid decarboxylase (AADC) deficiency is a rare and underdiagnosed neurometabolic disorder resulting in complex neurological non-neurological phenotype, posing diagnostic challenges delay. Due to the low number of patients, gathering high-quality scientific evidence on diagnosis treatment difficult. Additionally, based estimated prevalence, undiagnosed patients likely be high. Methods Italian experts AADC formed steering committee engage clinicians...