Maria Stella Vari
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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: Long‐term plasma monitoring of <scp>THC</scp> and <scp>CBD</scp> in pediatric drug‐resistant epilepsy: Implications for cannabidiol therapy with Epidyolex®
Long‐term plasma monitoring of <span>THC</span> and <span>CBD</span> in pediatric drug‐resistant epilepsy: Implications for cannabidiol therapy with Epidyolex® Open
This study evaluated long‐term plasma concentrations of cannabidiol (CBD) and Δ9‐tetrahydrocannabinol (THC) in children receiving highly purified cannabidiol (hpCBD; Epidyolex®) therapy for drug‐resistant epilepsy. A retrospective analysis…
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: 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: 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: Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders
Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders 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: Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series
Phosphatase and tensin homolog (PTEN) variants and epilepsy: A multicenter case series Open
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: Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients Open
Background: Poirier–Bienvenu Neurodevelopmental Syndrome (POBINDS) is a rare disease linked to mutations of the CSNK2B gene, which encodes for a subunit of caseinkinase CK2 involved in neuronal growth and synaptic transmission. Its main fe…
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: 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: An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy
An Open Retrospective Study of a Standardized Cannabidiol Based-Oil in Treatment-Resistant Epilepsy Open
Introduction: Cannabidiol (CBD) has antiseizure properties but no psychoactive effects. Randomized controlled trials of an oral, pharmaceutical formulation of highly purified CBD are promising; however, data regarding other formulat…
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: 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: Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females
Three de novo DDX3X variants associated with distinctive brain developmental abnormalities and brain tumor in intellectually disabled females Open
View article: No evidence for a <i><scp>BRD</scp>2</i> promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy
No evidence for a <i><span>BRD</span>2</i> promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsy Open
Summary Juvenile myoclonic epilepsy ( JME ) is a common syndrome of genetic generalized epilepsies ( GGE s). Linkage and association studies suggest that the gene encoding the bromodomain‐containing protein 2 ( BRD 2 ) may increase risk of…
View article: Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations
Neurologic phenotypes associated with <i>COL4A1</i> / <i>2</i> mutations Open
COL4A1/COL4A2 mutations typically cause a severe neurologic condition and a broader spectrum of milder phenotypes, in which epilepsy is the predominant feature. Early identification of patients carrying COL4A1/COL4A2 mutation…
View article: Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study
Rare coding variants in genes encoding GABAA receptors in genetic generalised epilepsies: an exome-based case-control study Open
View article: Next-generation sequencing for genetic diagnosis of epileptic encephalopathies in infancy
Next-generation sequencing for genetic diagnosis of epileptic encephalopathies in infancy Open
Next-generation sequencing for genetic diagnosis of epileptic encephalopathies in infancy
View article: Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet Open
Global metabolomic profiling offers novel opportunities for the discovery of biomarkers and for the elucidation of pathogenic mechanisms that might lead to the development of novel therapies. GLUT1 deficiency syndrome (GLUT1-DS) is an inbo…
View article: Novel <i>AMPD2</i> mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities
Novel <i>AMPD2</i> mutation in pontocerebellar hypoplasia, dysmorphisms, and teeth abnormalities Open
Pontocerebellar hypoplasias (PCHs) are a genetically and clinically heterogeneous group of autosomal recessive inherited neurodevelopmental disorders. In the past decade, whole-exome sequencing (WES) has led to the identification of new ge…
View article: De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy
De novo 12q22.q23.3 duplication associated with temporal lobe epilepsy Open
View article: Todd Paralysis in Rolandic Epilepsy
Todd Paralysis in Rolandic Epilepsy Open
Investigators from University of Gaziantep, Turkey described the clinical and EEG findings of patients with benign epilepsy of childhood with centrotemporal spikes (BECTS) experiencing postictal Todd paralysis.