Elisabetta Amadori
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View article: Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy‐insights from the Genoa International Workshop
Lennox–Gastaut syndrome unveiled: Advancing diagnosis, therapies, and advocacy‐insights from the Genoa International Workshop Open
Lennox–Gastaut syndrome (LGS) is one of the most severe, yet one of the most discussed, childhood‐onset developmental and epileptic encephalopathies (DEEs). Dissent among epileptologists on the definition and minimum set of electroclinical…
View article: Neonatal Perforator Stroke: Timing, Risk Factors, and Neurological Outcome from a Single-Center Experience
Neonatal Perforator Stroke: Timing, Risk Factors, and Neurological Outcome from a Single-Center Experience Open
Background and purpose: Perforator stroke (PS) is a subtype of perinatal arterial ischemic stroke (PAIS), in which injuries occur in the territory of the perforator branches of the main cerebral arteries. This study aims to explore the inc…
View article: Medication‐resistant epilepsy is associated with a unique gut microbiota signature
Medication‐resistant epilepsy is associated with a unique gut microbiota signature Open
Objective Dysfunction of the microbiota–gut–brain axis is emerging as a new pathogenic mechanism in epilepsy, potentially impacting on medication response and disease outcome. We investigated the composition of the gut microbiota in a coho…
View article: Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes Open
View article: Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol
Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol Open
View article: Prevalence of Cerebral Visual Impairment in Developmental and Epileptic Encephalopathies: a systematic review protocol
Prevalence of Cerebral Visual Impairment in Developmental and Epileptic Encephalopathies: a systematic review protocol Open
Background Developmental and Epileptic Encephalopathies (DEEs) are defined by drug-resistant seizures and neurodevelopmental disorders. Over 50% of patients have a genetic cause. Studies have shown that patients with DEEs, regardless of ge…
View article: Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy
Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy Open
The case study shows that a family-centered EI and prompt assessment of CVI can promote and enhance neurodevelopment.
View article: A proposal for a shared therapeutic algorithm in children with prolonged convulsive seizures and status epilepticus
A proposal for a shared therapeutic algorithm in children with prolonged convulsive seizures and status epilepticus Open
View article: Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia Open
Rotatin, encoded by the RTTN gene, is a centrosomal protein with multiple, emerging functions, including left-right specification, ciliogenesis, and neuronal migration. Recessive variants in RTTN are associated with a neurodevelopmental di…
View article: GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture
GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture Open
View article: A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy
A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy Open
Response to antiseizure medications (ASMs) can be influenced by several gene polymorphisms, causing either lower efficacy or higher occurrence of adverse drug reactions (ADRs). We investigated the clinical utility of salivary pharmacogenom…
View article: Cannabidiol, ∆9-tetrahydrocannabinol, and metabolites in human blood by volumetric absorptive microsampling and LC-MS/MS following controlled administration in epilepsy patients
Cannabidiol, ∆9-tetrahydrocannabinol, and metabolites in human blood by volumetric absorptive microsampling and LC-MS/MS following controlled administration in epilepsy patients Open
Cannabidiol (CBD) exhibits anti-inflammatory, anxiolytic, antiseizure, and neuroprotective proprieties without addictive or psychotropic side effects, as opposed to Δ 9 -tetrahydrocannabinol (THC). While recreational cannabis contains high…
View article: Pediatric SARS-CoV-2–Related Diplopia and Mesencephalic Abnormalities
Pediatric SARS-CoV-2–Related Diplopia and Mesencephalic Abnormalities Open
This report expands the spectrum of pediatric COVID-19-associated neurologic symptoms and highlights a possible isolated neurologic COVID-19-related symptom.
View article: Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus
Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus Open
View article: Acute Neurological Presentation in Children With SARS-CoV-2 Infection
Acute Neurological Presentation in Children With SARS-CoV-2 Infection Open
Background In the pediatric population, the knowledge of the acute presentation of SARS-CoV-2 infection is mainly limited to small series and case reports, particularly when dealing with neurological symptoms. We describe a large cohort of…
View article: Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE
Epilepsy Course and Developmental Trajectories in <i>STXBP1</i> -DEE Open
The disease course in STXBP1-DEE presents with 2 main trajectories, with either early seizure remission or drug-resistant epilepsy, and a range of neurodevelopmental outcomes from mild to profound intellectual disability. Age at sei…
View article: New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment
New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment Open
Background: Despite the wide availability of novel anti-seizure medications (ASMs), 30% of patients with epilepsy retain persistent seizures with a significant burden in comorbidity and an increased risk of premature death. This review aim…
View article: Epilepsy features in <i>ARID1B</i>‐related Coffin‐Siris syndrome
Epilepsy features in <i>ARID1B</i>‐related Coffin‐Siris syndrome Open
Objective . Coffin‐Siris syndrome (CSS) is a rare congenital malformation syndrome, caused by mutations in the ARID1B gene in over half of the cases. While the clinical characteristics of the syndrome have been increasingly described, a de…
View article: Epileptic encephalopathy caused by <scp>ARV1</scp> deficiency: Refinement of the genotype–phenotype spectrum and functional impact on <scp>GPI</scp> ‐anchored proteins
Epileptic encephalopathy caused by <span>ARV1</span> deficiency: Refinement of the genotype–phenotype spectrum and functional impact on <span>GPI</span> ‐anchored proteins Open
Early infantile epileptic encephalopathy 38 (EIEE38, MIM #617020) is caused by biallelic variants in ARV1 , encoding a transmembrane protein of the endoplasmic reticulum with a pivotal role in glycosylphosphatidylinositol (GPI) biosynthesi…
View article: Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2-Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report Open
Wieacker-Wolff syndrome (WWS) is an X-linked Arthrogryposis Multiplex Congenita (AMC) disorder associated with broad neurodevelopmental impairment. The genetic basis of WWS lies in hemizygous pathogenic variants in ZC4H2 , encoding a C4H2 …
View article: UHPLC-MS/MS Analysis of Cannabidiol and Its Metabolites in Serum of Patients with Resistant Epilepsy Treated with CBD Formulations
UHPLC-MS/MS Analysis of Cannabidiol and Its Metabolites in Serum of Patients with Resistant Epilepsy Treated with CBD Formulations Open
Cannabidiol (CBD) is a promising therapeutic agent with analgesic, myorelaxant, and anti-epileptic actions. Recently, a purified form of CBD (Epidiolex®) has been approved by the European Medicines Agency (EMA) for the treatment of two hig…
View article: Author response for "Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins"
Author response for "Epileptic encephalopathy caused by ARV1 deficiency: Refinement of the genotype-phenotype spectrum and functional impact on GPI-anchored proteins" Open
View article: Genotype-phenotype correlations in patients with de novo <i>KCNQ2</i> pathogenic variants
Genotype-phenotype correlations in patients with de novo <i>KCNQ2</i> pathogenic variants Open
Early identification of de novo variants in patients with epilepsy raises prognostic issues toward optimal management. We analyzed the clinical and genetic information from a cohort of patients with de novo pathogenic variants to dissect g…
View article: Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder
Complex Neurological Phenotype Associated with a De Novo DHDDS Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder Open
Mutations in the DHDDS gene (MIM: 617836), encoding a subunit of dehydrodolichyl diphosphate synthase complex, have been recently implicated in very rare neurodevelopmental diseases. In total, five individuals carrying two de novo mutation…
View article: Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project Open
View article: A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome
A further contribution to the delineation of epileptic phenotype in PACS2-related syndrome Open
View article: Emerging treatments for progressive myoclonus epilepsies
Emerging treatments for progressive myoclonus epilepsies Open
Introduction: Progressive myoclonus epilepsies (PMEs) are a group of neurodegenerative diseases, invariably leading to severe disability or fatal outcome in a few years or decades. Nowadays, PMEs treatment remains challenging with a…
View article: Additional file 1 of Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project
Additional file 1 of Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the ‘beyond epilepsy’ project Open
Additional file 1: Supplementary Table 1. Full list of the 283 genes included in the ‘Beyond Paediatric Epilepsy Panel’ version used for this study. Abbreviations: MQ, mapping quality score UCSC, University of California Santa Cruz genome …
View article: Precision medicine in early-onset epilepsy: the KCNQ2 paradigm
Precision medicine in early-onset epilepsy: the KCNQ2 paradigm Open
The identification of the genetic causes and the underlying pathogenic mechanisms in early-onset epilepsies has proved to be essential in improving the efficacy of therapeutic decisions and the overall patient management, especially in the…
View article: P23. Bafe and BRIEF-P for the assessment of the executive functions in preschool age
P23. Bafe and BRIEF-P for the assessment of the executive functions in preschool age Open