A5084260861- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- Epilepsy research and treatment
- Celiac Disease Research and Management
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- Genetic Neurodegenerative Diseases
- Pharmacological Effects and Toxicity Studies
- Neuroscience and Neuropharmacology Research
- Cerebral Palsy and Movement Disorders
- Microscopic Colitis
- Diet and metabolism studies
- Microbial Metabolites in Food Biotechnology
- Hereditary Neurological Disorders
- Autism Spectrum Disorder Research
- RNA regulation and disease
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Fetal and Pediatric Neurological Disorders
- Cholesterol and Lipid Metabolism
- Infant Development and Preterm Care
- Neurological diseases and metabolism
- Gastroesophageal reflux and treatments
- Genetic Syndromes and Imprinting
University of Naples Federico II
2015-2025
Federico II University Hospital
2015-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2013-2022
Mario Negri Institute for Pharmacological Research
2016-2022
Hôpital Robert-Debré
2014
Inserm
2014
Ceinge Biotecnologie Avanzate (Italy)
2013
SDN Istituto di Ricerca Diagnostica e Nucleare
2013
Abstract Epilepsy therapy is based on antiseizure drugs that treat the symptom, seizures, rather than disease and are ineffective in up to 30% of patients. There no treatments for modifying disease—preventing seizure onset, reducing severity or improving prognosis. Among potential molecular targets attaining these unmet therapeutic needs, we focused oxidative stress since it a pathophysiological process commonly occurring experimental epileptogenesis observed human epilepsy. Using rat model...
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...
Abstract GRIN-related disorders are rare developmental encephalopathies with variable manifestations and limited therapeutic options. Here, we present the first non-randomized, open-label, single-arm trial (NCT04646447) designed to evaluate tolerability efficacy of L-serine in children GRIN genetic variants leading loss-of-function. In this phase 2A trial, patients aged 2–18 years loss-of-function pathogenic received for 52 weeks. Primary end points included safety by measuring changes...
Status epilepticus (SE) is a life-threatening and commonly drug-refractory condition. Novel therapies are needed to rapidly terminate seizures prevent mortality morbidity. Monoacylglycerol lipase (MAGL) the key enzyme responsible for hydrolysis of endocannabinoid 2-arachidonoylglycerol (2-AG) major contributor brain pool arachidonic acid (AA). Inhibiting monoacylglycerol modulates synaptic activity neuroinflammation, 2 mediators excessive neuronal activation underlying seizures. We studied...
Background Dominant and recessive variants in the KIF1A gene on chromosome 2q37.3 are associated with several phenotypes, although only three syndromes currently listed OMIM classification: hereditary sensory autonomic neuropathy type 2 spastic paraplegia 30, both recessively inherited, mental retardation 9 dominant inheritance. Methods In this retrospective multicentre study, we describe clinical, neuroradiological genetic features of 19 Caucasian patients (aged 3–65 years) harbouring...
Heterozygous missense variants in the SPTBN2 gene, encoding non-erythrocytic beta spectrin 2 subunit (beta-III spectrin), have been identified autosomal dominant spinocerebellar ataxia type 5 (SCA5), a rare adult-onset neurodegenerative disorder characterized by progressive cerebellar ataxia, whereas homozygous loss of function associated with early onset and global developmental delay (SCAR14). Recently, heterozygous few patients an early-onset ataxic phenotype. We report five...
Abstract Objective We aimed to delineate the phenotypic spectrum and long‐term outcome of individuals with KCNB1 encephalopathy. Methods collected genetic, clinical, electroencephalographic, imaging data pathogenic variants recruited through an international collaboration, support family association “KCNB1 France.” Patients were classified as having developmental epileptic encephalopathy (DEE) or (DE). In addition, we reviewed published cases provided in patients older than 12 years from our...
Abstract De novo variants in KCNQ2 cause neonatal onset developmental and epileptic encephalopathy ( ‐DEE; Online Mendelian Inheritance Man #613720), most often by loss‐of‐function vitro effects. In this study, we describe a DEE proband carrying recurrent de variant (c.794C>T; p.A265V) affecting the pore domain of ‐encoded Kv7.2 subunits. Whole‐cell patch‐clamp measurement mammalian heterologous expression system revealed that, when compared to wild‐type channels, channels containing...
Hypomyelinating leukodystrophies are a heterogeneous group of disorders characterized by abnormal myelin formation in the central nervous system. Thanks to increased use NGS, growing number pathogenic single nucleotide variants DEGS1 have recently been reported be responsible for hypomyelinating leukodystrophy 18 (HLD18), rare and severe autosomal recessive form. is small gene (4 exons 17 kb) encoding Δ 4‐dihydroceramide desaturase, which catalyzes final step ceramide biosynthesis. Here, we...