A5091749616- Ion Transport and Channel Regulation
- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Ion channel regulation and function
- Mitochondrial Function and Pathology
- Cardiac electrophysiology and arrhythmias
- Autoimmune Neurological Disorders and Treatments
- Glycogen Storage Diseases and Myoclonus
- Epilepsy research and treatment
- Neuroblastoma Research and Treatments
- Neurogenetic and Muscular Disorders Research
- Folate and B Vitamins Research
- Neurological diseases and metabolism
- PARP inhibition in cancer therapy
- Attention Deficit Hyperactivity Disorder
- Neonatal and fetal brain pathology
- Obsessive-Compulsive Spectrum Disorders
- Fetal and Pediatric Neurological Disorders
- Hereditary Neurological Disorders
- Infant Development and Preterm Care
- Renal and related cancers
- Genomics and Rare Diseases
- Peripheral Neuropathies and Disorders
- Genetic Neurodegenerative Diseases
- Sleep and related disorders
University of Genoa
2016-2025
Istituto Giannina Gaslini
2015-2025
National Hospital for Neurology and Neurosurgery
2007-2020
University College London
2007-2020
Duke University
2020
Great Ormond Street Hospital
2020
Epilepsy Society
2020
Hospital Sant Joan de Déu Barcelona
2010
Centre for Biomedical Network Research on Rare Diseases
2010
Instituto de Salud Carlos III
2010
Mutations in the gene ATP1A3 have recently been identified to be prevalent patients with alternating hemiplegia of childhood (AHC2). Based on a large series AHC, we set out identify spectrum different mutations within and further establish any correlation phenotype. Clinical data from an international cohort 155 AHC (84 females, 71 males; between 3 months 52 years) were gathered using specifically formulated questionnaire analysed relative mutational for each patient. In total, 34 detected...
The COVID-19 pandemic has changed individuals' lifestyles to a great extent, particularly in Italy. Although many concerns about it have been highlighted, its impact on children and adolescents scarcely examined. purpose of this study was explore behavioral consequences coping strategies related the among families Italy, by focusing developmental ages from caregivers' perspective, 3 weeks into quarantine. An exploratory cross-sectional online survey conducted over 14 days. Google Forms...
Importance Alternating hemiplegia of childhood (AHC) is a disorder that can result from pathogenic variants in ATP1A3 -encoded sodium-potassium adenosine triphosphatase alpha 3 (ATP1A3). While AHC primarily neurologic disease, some individuals experience sudden unexplained death (SUD) potentially associated with cardiac arrhythmias. Objective To determine the impact on electrophysiology and whether lethal ventricular arrhythmias are SUD patients AHC. Design, Setting, Participants In this...
Objective: The aim of this study is to describe the long-term neurological, neuropsychological and neuroradiological sequelae determine prognostic factors for neurological outcome in children with neuroblastoma-associated opsoclonus-myoclonus-ataxia (OMA) syndrome.
Background: Cerebral folate deficiency may be amenable to therapeutic supplementation.Diverse metabolic pathways and unrelated processes can lead cerebrospinal fluid 5-methyltetrahydrofolate (5-MTHF) depletion, the hallmark of cerebral deficiency.Objective: To analyze abundance in a large prospective series children diagnosed with any neurologic disorder for which diagnostic lumbar puncture was indicated.Design: We studied spectrum frequency disorders associated by measuring 5-MTHF, biogenic...
ABSTRACT Background and Objective The objective of this study was to better delineate the genetic landscape key clinical characteristics complex, early‐onset, monogenic hyperkinetic movement disorders. Methods Patients were recruited from 14 international centers. Participating clinicians completed standardized proformas capturing demographic, clinical, data. Two pediatric disorder experts reviewed available video footage, classifying movements according published criteria. Results One...
Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed neurons and cardiomyocytes. As affected individuals may survive into adulthood, we use term 'alternating hemiplegia'. The characterized early-onset, recurrent, often alternating, hemiplegic episodes; seizures non-paroxysmal neurological features also occur. Dysautonomia occur during or isolation. Premature mortality can this patient group not fully explained. Preventable...
Objectives: Whether PANS (pediatric acute-onset neuropsychiatric syndrome) and PANDAS autoimmune disorders associated with streptococcal infection) represent true clinical entities is debated data for a characteristic phenotype are still controversial. In this study, we aim to characterize clinical, neuropsychological, biochemical aspects in sample of patients. Methods: Patients fulfilling diagnosis or from 2014 2017 were enrolled. Neurological psychiatric examination instrumental assessment...
To define the risks and consequences of cardiac abnormalities in ATP1A3-related syndromes.Patients meeting clinical diagnostic criteria for rapid-onset dystonia-parkinsonism (RDP), alternating hemiplegia childhood (AHC), cerebellar ataxia, areflexia, pes cavus, optic atrophy, sensorineural hearing loss (CAPOS) with ATP1A3 genetic analysis at least 1 assessment were included. We evaluated phenotype an Atp1a3 knock-in mouse (Mashl+/-) to determine sequence events seizure-related...
<b>SUMMARY:</b> Late infantile GM1 gangliosidosis is a rare lysosomal disorder characterized by mental deterioration and progressive spastic, cerebellar, extrapyramidal signs, without facial dysmorphisms organomegaly. Neuroimaging findings have been reported in only few cases. Here we report on predominant globus pallidus MR signal-intensity abnormalities 2 patients with the late form of gangliosidosis.
A high prevalence of sleep disturbances has been reported in children with neurodevelopmental disorders (NDDs), such as autism spectrum disorder (ASD), attention deficit hyperactivity (ADHD), and intellectual disability (ID). The etiology these is heterogeneous and, recently, iron deficiency received increasing attention. This study aims to investigate features NDDs explore a possible correlation between serum status biomarkers qualitative sleep. We included 4- 12-year-old diagnosis ASD,...
Introduction Schizophrenia (SCZ) and autism spectrum disorder (ASD) are neurodevelopmental diseases characterized by different psychopathological manifestations divergent clinical trajectories. Various alterations at glutamatergic synapses have been reported in both disorders, including abnormal NMDA metabotropic receptor signaling. Methods We conducted a bicentric study to assess the blood serum levels of receptors-related amino acids their precursors, L-glutamate, L-glutamine, D-aspartate,...
Abstract Background: Gilles de la Tourette syndrome is a childhood‐onset disorder characterized by persistent motor and vocal tics fluctuating in severity. Although structural changes observed concern brain structures involved voluntary control such as the basal ganglia, frontoparietal cortex, corpus callosum, movement lateralization bimanual coordination have been underinvestigated. Methods: Using sensor‐engineered glove, we analyzed performance of repetitive externally paced single‐hand...
Alternating hemiplegia of childhood is a rare neurological disease characterized by paroxysmal movement disorders and chronic disturbances, with onset before 18 months age. Mutations in the ATP1A3 gene have been identified up to 80% patients. Thirty-nine patients [20 females, 19 males, mean age 25.32 years (7.52–49.34)] recruited through Italian Biobank Clinical Registry for Hemiplegia Childhood. Demographic data, genotype, disorders, features, response flunarizine analyzed. mutations...
Aim: Monitoring of blood levels Δ9-tetrahydrocannabinol (THC) and cannabidiol (CBD) is necessary for optimization administration medical cannabis. We describe the validation a ultra-HPLC-MS/MS method quantifying THC CBD from plasma decoctions its application therapeutic drug monitoring.Materials & methods: Analyses were performed by using TSQ Quantiva™ Triple Quadrupole coupled to Ultimate 3000 UHPLC system with atmospheric pressure chemical ionization after sample preparation...