Publications by authors named "Gaetano Cantalupo"

Background: We aimed to estimate real-world evidence of the prevalence rate of genetic developmental and epileptic encephalopathies (DEEs) in the Italian population over a 11-year period.

Methods: Fifteen paediatric and adult tertiary Italian epilepsy centres participated in a survey related to 98 genes included in the molecular diagnostic workflows of most centres. We included patients with a clinical diagnosis of DEE, caused by a pathogenic or likely pathogenic variant in one of the selected genes, with a molecular diagnosis established between 2012 and 2022.

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Objective: Few studies have evaluated the efficacy of antiseizure medications (ASMs) according to the etiology of neonatal acute provoked seizures. We aimed to investigate the response to ASMs in term/near term neonates with acute arterial ischemic stroke (AIS), as well as the type of seizure at presentation and the monitoring approach.

Methods: We retrospectively evaluated neonates from 15 European level IV neonatal intensive care units who presented with seizures due to AIS and were monitored by continuous electroencephalography (cEEG) and/or amplitude-integrated EEG (aEEG) in whom actual recordings, timing, doses, and response to ASMs were available for review.

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Myoclonus has multiple clinical manifestations and heterogeneous generators and etiologies, encompassing a spectrum of disorders and even physiological events. This paper, developed from a teaching course conducted by the Neurophysiology Commission of the Italian League against Epilepsy, aims to delineate the main types of myoclonus, identify potential underlying neurological disorders, outline diagnostic procedures, elucidate pathophysiological mechanisms, and discuss appropriate treatments. Neurophysiological techniques play a crucial role in accurately classifying myoclonic phenomena, by means of simple methods such as EEG plus polymyography (EEG + Polymyography), evoked potentials, examination of long-loop reflexes, and often more complex protocols to study intra-cortical inhibition-facilitation In clinical practice, EEG + Polymyography often represents the first step to identify myoclonus, acquire signals for off-line studies and plan the diagnostic work-up.

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Objective: EEG patterns and quantitative EEG (qEEG) features have been poorly explored in monogenic epilepsies. Herein, we investigate regional differences in EEG frequency composition in patients with STXBP1 developmental and epileptic encephalopathy (STXBP1-DEE).

Methods: We conducted a retrospective study collecting electroclinical data of patients with STXBP1-DEE and two control groups of patients with DEEs of different etiologies and typically developing individuals matched for age and sex.

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Introduction: AADCd is an ultrarare, underdiagnosed neurometabolic disorder for which a screening test (3-OMD dosing on dried blood spot (DBS)) and targeted gene therapy (authorized in the EU and the UK) are available. Therefore, it is mandatory to raise awareness of presenting symptoms and signs among practitioners. Delivering scientifically sound information to promote screening of patients with the correct cluster of symptoms and signs would be critical.

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Article Synopsis
  • A 7-year-old girl with a history of headaches experienced unusual neurological symptoms after episodes of hyperventilation, including aphasia and weakness on one side of her body.
  • Despite her family history of migraines and seizures, her neurologic exam remained normal, but EEG tests showed abnormal brain wave patterns linked to her symptoms.
  • The case suggests an important link between hyperventilation and rare cerebrovascular disorders, emphasizing the need for thorough EEG analysis in diagnosing such conditions.
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Objective: DYNC1H1 variants are involved on a disease spectrum from neuromuscular disorders to neurodevelopmental disorders. DYNC1H1-related epilepsy has been reported in small cohorts. We dissect the electroclinical features of 34 patients harboring de novo DYNC1H1 pathogenic variants, identify subphenotypes on the DYNC1H1-related epilepsy spectrum, and compare the genotype-phenotype correlations observed in our cohort with the literature.

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Objective: Drowsiness has been implicated in the modulation of centro-temporal spikes (CTS) in Self-limited epilepsy with Centro-Temporal Spikes (SeLECTS). Here, we explore this relationship and whether fluctuations in wakefulness influence the brain networks involved in CTS generation.

Methods: Functional MRI (fMRI) and electroencephalography (EEG) was simultaneously acquired in 25 SeLECTS.

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In epilepsy with myoclonic-atonic seizures (EMA), status epilepticus (SE) may occur during the onset phase, uncommonly in post-puberal patients. We report a post-puberal patient with EMA who presented SE with insidious onset and catamenial recurrence. She had a stormy epilepsy onset at 4 years, with tonic seizures, atypical absences, and myoclonic-atonic seizures, in the absence of SE.

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Introduction: High-density EEG (hdEEG) is a validated tool in presurgical evaluation of people with epilepsy. The aim of this national survey is to estimate diffusion and knowledge of hdEEG to develop a network among Italian epilepsy centers.

Methods: A survey of 16 items (and 15 additional items) was distributed nationwide by email to all members of the Italian League Against Epilepsy and the Italian Society of Clinical Neurophysiology.

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Backgroud: SARS-Cov2 infection began to spread worldwide since December 2019; on March 2020, the World Health Organization characterized its related disease, named COVID-19, as a pandemic. In Italy, to contain the spread of infection a severe lockdown in the spring 2020 was instituted. Other less severe restrictions were imposed in the winter 2020-2021 and in the spring 2021.

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Objective: Variants in GABRA1 have been associated with a broad epilepsy spectrum, ranging from genetic generalized epilepsies to developmental and epileptic encephalopathies. However, our understanding of what determines the phenotype severity and best treatment options remains inadequate. We therefore aimed to analyze the electroclinical features and the functional effects of GABRA1 variants to establish genotype-phenotype correlations.

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Purpose: Heterozygous variants in PRRT2 are mostly associated with benign phenotypes, being the major genetic cause of benign familial infantile seizures (BFIS), as well as in paroxysmal disorders. We report two children from unrelated families with BFIS that evolved to encephalopathy related to status epilepticus during sleep (ESES).

Methods And Results: Two probands presented with focal motor seizures at 3 months of age, with a limited course.

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Gelastic seizures are rare epileptic manifestations characterized by laughter or a smile. The main etiology is represented by hypothalamic hamartoma, but also focal localization of the epileptogenic zone is described. We reviewed a group of patients with gelastic seizures to describe the semiology and to establish any difference related to diverse epilepsy etiologies.

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Encephalopathy related to Status Epilepticus during slow Sleep (ESES) is a childhood epilepsy syndrome characterized by the appearance of cognitive, behavioral, and motor disturbances in conjunction with a striking activation of EEG epileptic abnormalities during non-REM sleep. After more than 50 years since the first description, the pathophysiological mechanisms underlying the appearance of encephalopathy in association with a sleep-related enhancement of epileptic discharges are incompletely elucidated. Recent experimental data support the hypothesis that the development of the ESES encephalopathic picture depends on a spike-induced impairment of the synaptic homeostasis processes occurring during normal sleep and that is particularly pronounced during the developmental age.

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Article Synopsis
  • The study aimed to identify early indicators of relapse and outcomes in pediatric patients with myelin oligodendrocyte glycoprotein antibody-associated disorders (MOGAD).* -
  • Researchers analyzed data from 75 children, finding differences in disease presentation based on age; younger patients were more likely to present with acute disseminated encephalomyelitis, while older patients saw more cases of optic neuritis.* -
  • Results highlighted specific early treatment factors, such as starting immunotherapy within 7 days or prolonged corticosteroid use, as associated with lower relapse risks; 21.1% of patients had moderate to severe disability at final follow-up, particularly among those with relapsing disease.*
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Aim: To explore the feasibility of using an adaptive behaviour profile (ABP) assessment generated from a well-known measure-the Vineland Adaptive Behavior Scales, Second Edition (VABS-II)-as an instrument for outcome measures in adolescents and adults with Dravet syndrome.

Method: We administered the VABS-II to 35 adolescents and adults with Dravet syndrome (15 males; mean age 24 years, SD 8 years, range: 12-46 years) and collected epilepsy history and neurological features at the time of assessment. We conducted a cross-sectional analysis of VABS-II raw scores and performed cluster analysis to identify different subgroups.

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Purpose: To perform a systematic review searching for differences in the side effects of antiseizure medications (ASMs) with respect to sex in pediatric patients with epilepsy.

Methods: We carried out a comprehensive literature search of the PubMed database and all results up to April 2020 were included. Titles, abstracts, and full texts of the articles were screened by two independent reviewers.

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Article Synopsis
  • The study focuses on adults with STXBP1-related developmental and epileptic encephalopathy (STXBP1-DEE), examining seizure types, movement disorders, and functional independence.
  • It included 30 adult patients with severe epilepsy; 80% had treatment-resistant seizures, and most exhibited significant developmental impairment and behavioral challenges.
  • Video assessments revealed gait and movement disorders in patients, with varying levels of mobility and a high prevalence of severe intellectual disability and autistic features.
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