Neonatal Perforator Stroke: Timing, Risk Factors, and Neurological Outcome from a Single-Center Experience.

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 incidence, timing, risk factors, and clinical presentation of PS in both preterm and full-term neonates. We retrospectively analyzed data about all the neonatal brain MRIs carried out in our hospital from March 2012 to March 2023.

Medication-resistant epilepsy is associated with a unique gut microbiota signature.

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 cohort of medication-resistant (MR) and medication-sensitive (MS) pediatric patients with epilepsy.

Methods: Children with epilepsy of genetic and presumed genetic etiologies were evaluated clinically and subgrouped into MR and MS.

Prevalence of cerebral visual impairment in developmental and Epileptic Encephalopathies: a systematic review protocol.

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 genetic diagnosis, experience a central visual function disorder known as Cerebral (cortical) Visual Impairment (CVI).

Early Developmental Intervention and Enriched Environment in CDKL5 Developmental and Epileptic Encephalopathy: A Case Report.

Objectives: CDKL5 developmental and epileptic encephalopathy (CDKL5-DEE) is a rare X-linked dominant genetic disorder. Family-centered Early Intervention (EI) programs, which promote axonal plasticity and synaptic reorganization through exposure to an enriched environment, should be integrated into clinical practice. However, there is presently a dearth of dedicated EI protocols for patients with CDKL5-DEE and cerebral visual impairment (CVI).

Case Report: Novel biallelic moderately damaging variants in in a patient with cerebellar dysplasia.

Rotatin, encoded by the gene, is a centrosomal protein with multiple, emerging functions, including left-right specification, ciliogenesis, and neuronal migration. Recessive variants in are associated with a neurodevelopmental disorder with microcephaly and malformations of cortical development known as "Microcephaly, short stature, and polymicrogyria with seizures" (MSSP, MIM #614833). Affected individuals show a wide spectrum of clinical manifestations like intellectual disability, poor/absent speech, short stature, microcephaly, and congenital malformations.

Electroclinical Features of Epilepsy in Kleefstra Syndrome.

Background: Kleefstra syndrome (KS) or 9q34.3 microdeletion syndrome (OMIM #610253) is a rare genetic condition featuring intellectual disability, hypotonia, and dysmorphic facial features. Autism spectrum disorder, severe language impairment, and sleep disorders have also been described.

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.

Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979 deeply phenotyped patients from multiple genetic ancestry groups with diverse epilepsy subtypes and 33,444 controls, to investigate rare variants that confer disease risk. These analyses implicate seven individual genes, three gene sets, and four copy number variants at exome-wide significance.

Cannabidiol Add-On in Glycosylphosphatidylinositol-Related Drug-Resistant Epilepsy.

Glycosylphosphatidylinositol-anchored protein deficiencies (GPI-ADs) are commonly associated with drug-resistant epilepsy (DRE). Cannabidiol (CBD) is approved for the adjunctive treatment of seizures in Dravet/Lennox-Gastaut Syndromes and Tuberous Sclerosis Complex. We report on the efficacy and safety of CBD for the treatment of DRE in patients with genetically proven GPI-AD.

A real-life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.

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 pharmacogenomic testing on epilepsy patients. A commercialized pharmacogenomic salivary test was performed in a cohort of epileptic patients.

Learnings in developmental and epileptic encephalopathies: what do we know?

Introduction: Developmental and Epileptic Encephalopathies (DEEs) encompass a group of neurological disorders caused by either abnormal neuronal development and white matter maturation or even by weak synaptic plasticity. Hitherto, patients commonly have epileptic seizures featuring cognitive dysfunction, such as neurosensory disorders, difficulties in learning, behavioral disturbances, or speech delay.

Areas Covered: This paper provides a comprehensive review of the current knowledge of DEEs and cognition.

Pediatric SARS-CoV-2-Related Diplopia and Mesencephalic Abnormalities.

Objective: This case report describes a patient with mesencephalic MRI signal abnormality and diplopia, possibly associated with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection.

Methods: We describe a boy with binocular diplopia and nystagmus. The pattern of serology positivity and negative direct research of SARS-CoV-2 RNA in our patient allowed us to consider novel coronavirus as the trigger of possible immune-mediated phenomena against the central nervous system.

Cannabidiol, ∆-tetrahydrocannabinol, and metabolites in human blood by volumetric absorptive microsampling and LC-MS/MS following controlled administration in epilepsy patients.

Cannabidiol (CBD) exhibits anti-inflammatory, anxiolytic, antiseizure, and neuroprotective proprieties without addictive or psychotropic side effects, as opposed to Δ-tetrahydrocannabinol (THC). While recreational cannabis contains higher THC and lower CBD concentrations, medical cannabis contains THC and CBD in different ratios, along with minor phytocannabinoids, terpenes, flavonoids and other chemicals. A volumetric absorptive microsampling (VAMS) method combined with ultra-high-performance liquid chromatography coupled with mass spectrometry in tandem for quantification of CBD, THC and their respective metabolites: cannabidiol-7-oic acid (7-COOH-CBD); 7-hydroxy-cannabidiol (7-OH-CBD); 6-alpha-hydroxy-cannabidiol (6-α-OH-CBD); and 6-beta-hydroxycannabidiol (6-β-OH-CBD); 11- Hydroxy-Δ-tetrahydrocannabinol (11-OH-THC) and 11-Nor-9-carboxy-Δ-tetrahydrocannabinol (THCCOOH).

Current and promising therapeutic options for Dravet syndrome.

Introduction: Dravet Syndrome (DS) is a developmental and epileptic encephalopathy carrying high-level psychobehavioral burdens. Although the disease has been known for almost 4 decades, and despite significant progress in the understanding of its physiopathology and natural course, the pharmacological treatment leaves patients and caregivers with significant unmet needs. This review provides a summary of the current and promising therapeutic options for DS.

Abnormal course of the corticospinal tracts in KIF5C-related encephalopathy.

KIF5C encodes a protein belonging to the kinesin family and involved in cellular transport. Variants in KIF5C were first associated a decade ago with microcephaly and malformations of cortical development, with a phenotypic spectrum ranging from polymicrogyria to pachygyria. Currently, eight patients have been reported so far.

Pharmacokinetic considerations surrounding the use of levetiracetam for seizure prophylaxis in neurocritical care - an overview.

Introduction: Levetiracetam (LEV) is one of the most widely used anti-seizure medications (ASMs) in clinical practice. This is due both to a different mechanism of action when compared to other ASMs and its easy handling. Indeed, because of its interesting pharmacokinetic properties, it is often used outside of the labeled indications, notably in the neurocritical setting as prophylaxis of epileptic seizures.

Acute Neurological Presentation in Children With SARS-CoV-2 Infection.

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 children with acute SARS-CoV-2 infection, focusing on the neurological manifestations and investigating correlations between disease severity and population demographics.

Methods: Patients aged 0-18 years with a positive molecular swab were recruited between April 2020 and March 2021 from a tertiary Italian pediatric centre.

Impact and management of drooling in children with neurological disorders: an Italian Delphi consensus.

Background: The rate of chronic drooling in children older than 4 years is 0.5%, but it rises to 60% in those with neurological disorders. Physical and psychosocial consequences lead to a reduction in the quality of Life (QoL) of affected patients; however, the problem remains under-recognized and under-treated.

Genetic paroxysmal neurological disorders featuring episodic ataxia and epilepsy.

Objective: This review article focuses on clinical and genetic features of paroxysmal neurological disorders featuring episodic ataxia (EA) and epilepsy and help clinicians recognize, diagnose, and treat patients with co-existing EA and epilepsy. It also provides an overview of genes and molecular mechanisms underlying these intriguing neurogenetic disorders.

Methods: Based on a literature review on Pubmed database, a list of genes linked to paroxysmal neurological disorders featuring EA and epilepsy were compiled.

New Trends and Most Promising Therapeutic Strategies for Epilepsy Treatment.

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 aims to discuss the therapeutic strategies, both pharmacological and non-, which are currently in the pipeline. PubMed, Scopus, and EMBASE databases were screened for experimental and clinical studies, meta-analysis, and structured reviews published between January 2018 and September 2021.

Epilepsy features in ARID1B-related Coffin-Siris syndrome.

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 detailed evaluation of the epileptic phenotype in patients with ARID1B alterations and CSS has not been approached yet. We report seven patients with ARID1B-related CSS, focusing on epilepsy and its electroclinical features.

Complex Neurological Phenotype Associated with a De Novo Mutation in a Boy with Intellectual Disability, Refractory Epilepsy, and Movement Disorder.

Mutations in the 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 mutations in have been reported so far, but genotype-phenotype correlations remain elusive. We reported a boy with a mutation in (NM_205861.