Standard complete blood count to predict long-term outcomes in febrile infection-related epilepsy syndrome (FIRES): A multicenter study.

Objective: We investigated whether complete blood count (CBC) analyses during intensive care unit stay could predict 12-month outcomes in patients with cryptogenic febrile infection-related epilepsy syndrome (FIRES), a subset of new-onset refractory status epilepticus (NORSE).

Methods: Outcomes at 12 months were classified as "unfavorable" (Glasgow Outcome Score [GOS] 1-3) or "favorable" (GOS 4-5). Demographic, clinical, and serial CBC data were collected across treatment phases: (1) no immunotherapy (before initiation or no treatment), (2) first-line immunotherapy, and (3) second-line immunotherapy.

Sleep and Awake EEG Findings in a Patient With Lafora Disease: From Presymptomatic to Overt Disease Stage.

Objectives: Lafora disease (LD) is a fatal progressive myoclonic epilepsy, characterized by disabling myoclonus, intractable seizures, and progressive cognitive decline. At the onset of symptoms, however, distinction from idiopathic generalized epilepsies may be difficult based on EEG because the background activity is typically preserved and the only abnormalities are rare generalized spike-and-wave discharges facilitated by the intermittent light stimulation. This underscores the urgent need for early biomarkers of the disease, particularly as disease-modifying therapies are being developed.

Exploring transition in epilepsy within ERN EpiCARE centers: Insights from a survey analysis.

The transition from pediatric to adult healthcare is a critical stage for young individuals with chronic neurological disorders, particularly those with rare and complex epilepsies. This paper aims to explore the practice of transition by healthcare providers within EpiCARE. Through a comprehensive questionnaire, developed in collaboration with European Patient Advocacy Groups, this study investigates the current management of transition and identifies key barriers hindering stakeholders' needs.

Reliability and diagnostic accuracy of home video recording in differentiating sleep-related hypermotor epilepsy from disorders of arousal.

Objective: This study evaluates the interobserver reliability (IR) and diagnostic accuracy of home video in distinguishing sleep-related hypermotor epilepsy (SHE) from disorders of arousal (DoA) among neurologists with varying levels of expertise. Additionally, it assesses the learning effect in nonexpert raters and extrapolates key diagnostic elements and confounding factors.

Methods: We selected 24 home videos capturing sleep-related events recognized as typical from 12 patients with confirmed SHE and 12 with DoA.

Trends in epilepsy surgery in Italy before and after the COVID-19 pandemic: A nationwide study.

Objective: To study the current practice of epilepsy surgery in Italy and the relative impact of coronavirus disease 2019 (COVID-19) pandemic on it.

Methods: We launched a survey through the Italian National Virtual Epilepsy Institute, to identify centers with epilepsy surgery programs and collect data on the current preoperative and surgical practices. We reported changes in surgical volumes and complications and seizure outcomes between 2018 and 2022, that is, before and after the COVID-19 pandemic in Italy.

Novel ADGRV1 pathogenic variant associated to sleep-related hypermotor epilepsy.

Sleep-related hypermotor epilepsy is characterized by complex seizures predominantly during sleep, marked by hyperkinetic movements and/or asymmetric tonic/dystonic posturing. The etiology often remains unknown, but when identified it is attributed to genetic and/or structural factors, implicating genes such as CHRNA4, CHRNB2, CHRNA2, KCNT1, and DEPDC5. ADGRV1 pathogenic variants are associated with an autosomal recessive form IIC of Usher syndrome and several epilepsy types, including generalized auditory-induced seizures, focal epilepsy, genetic generalized epilepsy, and epileptic encephalopathy.

Progressive encephalopathy in m.3243A > G/MT-TL1 mutation carriers: a quantitative EEG analysis.

Objective: The m.3243A > G/MT-TL1 mutation underlies a broad spectrum of clinical manifestations, varying from the mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome to incomplete phenotypes without stroke-like episodes (SLE), termed MELAS-Spectrum Syndrome (MSS). We systematically analyzed the longitudinal EEG changes in individuals carrying the m.

Phenotypic Spectrum in Individuals With Pathogenic Loss- and Gain-of-Function Variants.

Background And Objectives: Variants in the gene encoding the γ2 subunit of the γ-aminobutyric acid type A (GABA) receptor are associated with a spectrum of epilepsy phenotypes. These range from simple febrile seizures to more severe conditions, including developmental and epileptic encephalopathies (DEEs). Despite previous analyses suggesting that pathogenic variants may lead to loss-of-function (LoF) receptors, a correlation between functional analysis and clinical phenotypic diversity remains elusive.

Improving the transition from pediatric to adult epilepsy care: An expert opinion.

The transition from pediatric to adult care is a critical and challenging phase for young people with epilepsy (PwE), often marked by disruptions in care continuity, social stigma, isolation, and difficulties in achieving autonomy. These challenges are further compounded in PwE with neurodevelopmental or psychiatric comorbidities, often resulting in suboptimal medical and psychosocial outcomes and a perceived lack of adequate support. Ensuring a structured, effective multiprofessional transition is crucial for preserving quality of life and addressing key issues such as medication adherence, social integration, and life skills, including driving, employment, and relationships.

Effectiveness of perampanel as only concomitant antiseizure medication for highly active epilepsy: insight from a real-world, multicenter retrospective study.

Introduction: Managing patients with highly frequent seizures poses significant challenges for clinicians due to their high resistance to therapy. This study aims to evaluate the 12-month efficacy, safety, and tolerability of PER as the sole add-on therapy for patients with highly active epilepsy in a real-world setting.

Methods: Data from the previous Italian retrospective, observational, multicenter "PERampanel as Only Concomitant Antiseizure Medication" (PEROC) study were analyzed, categorizing patients by baseline seizure frequency into three groups: < 5, 5-20, and > 20 seizures/month.

Multifocal paraneoplastic encephalitis associated with anti-GABA-B and anti-Hu antibodies manifesting with status epilepticus and epilepsia partialis continua: Expanding the clinical-radiological spectrum.

Paraneoplastic neurological syndromes (PNSs) are immune-mediated effects of remote cancer, which often harbor anti-neuronal antibodies. These antibodies may direct toward intracellular or cell-surface antigens and the clinical picture associated with each antibody is often stereotyped. Little is known about clinical and radiological manifestations of PNSs with co-occurring anti-intracellular and anti-surface neuronal antigens.

Secondary sclerosing cholangitis in critically ill patients with febrile infection-related epilepsy syndrome (FIRES): a case series.

Objectives: To describe the occurrence of secondary sclerosing cholangitis in critically ill patients (SC-CIP) with febrile infection-related epilepsy syndrome (FIRES).

Methods: Monocentric retrospective analysis of all adult patients with FIRES admitted from January 2020 to December 2024.

Results: Four patients (3 males) with a mean age of 24 years (range: 18-40 years) and no significant medical history presented with cryptogenic FIRES.

EEG as a predictive biomarker of neurotoxicity in anti-CD19 CAR T-cell therapy.

Objective: Immune effector cell-associated neurotoxicity syndrome (ICANS) is a potentially fatal complication of CD19-directed CAR T-cell therapy. The aim of this study was to investigate the role of EEG as a predictive biomarker of ICANS.

Methods: In this prospective, monocentric, cohort study, consecutive refractory B-cell non-Hodgkin lymphoma patients undergoing CAR T-cell therapy had EEG assessments at fixed time points pre- and post-infusion.

Quantitative dried blood spot microsampling for therapeutic drug monitoring of -antiseizure medications by design of experiment and UHPLC-MS/MS.

Background: Therapeutic drug monitoring (TDM) of Antiseizure Medications (ASMs) is an essential tool for persons with epilepsy (PwE). Compared to traditional venipuncture, microsampling requires lower blood volume through less painful and invasive fingerprick offering a sampling methodology potentially performed at-home. This study aimed to validate the extraction method of ASMs from Capitainer®-qDBS microsampling.

Expanding the therapeutic role of highly purified cannabidiol in monogenic epilepsies: A multicenter real-world study.

Objective: This real-world, retrospective, multicenter study aims to investigate the effectiveness of highly purified cannabidiol (CBD) in a large cohort of patients with epilepsy of genetic etiology due to an identified monogenic cause. Additionally, we examine the potential relationship between specific genetic subgroups and treatment response.

Methods: This study was conducted across 27 epilepsy centers and included patients with monogenic epileptic disorders (pathogenic or likely pathogenic variants) who were treated with highly purified CBD for at least 3 months.

Effectiveness and safety of adjunctive cenobamate in people with focal-onset epilepsy: Interim results after 24-week observational period from the BLESS study.

Objective: Cenobamate is an antiseizure medication (ASM) with a dual mechanism of action that was recently approved for the treatment of focal seizures in adults. This analysis aimed to describe the outcomes at 12 and 24 weeks after starting cenobamate therapy in a real-world setting.

Methods: BLESS [NCT05859854] is an ongoing, observational, retrospective and prospective cohort study to evaluate the real-world effectiveness and safety of adjunctive cenobamate in adults with uncontrolled focal epilepsy.

Causes of hospitalization and mortality in persons with epilepsy: The EpiLink Bologna cohort, Italy.

Background: Epilepsy significantly impacts on morbidity and mortality. Understanding hospitalization and mortality risks in persons with epilepsy (PWE) is essential for improving healthcare strategies. We aimed to investigate the risk and causes of hospitalization and mortality in PWE compared to a matched general population cohort.

Valproate discontinuation in girls and women of childbearing age with epilepsy: An Italian multicenter retrospective study on prescribing patterns and outcomes.

Objective: This study aimed to identify prescribing behaviors in women of childbearing potential (WOCP) with epilepsy already taking valproate (VPA), and to investigate the relationship between VPA maintenance, substitution, reduction, or withdrawal as part of polytherapy, and seizure worsening or relapse.

Methods: We retrospectively reviewed the prescription behaviors and seizure outcomes in WOCP (16-50 years of age) with epilepsy, referred to eight Italian epilepsy centers, who were taking VPA for at least 1 year between 2014 and 2019.

Results: Among 750 women (~12% of all WOCP), 528 (70.

Blood neurofilament light chain and S100B as biomarkers of neurological involvement and functional prognosis in COVID-19: a multicenter study.

Background And Aim: COVID-19 is associated with neurological complications, termed neuro-COVID, affecting patient outcomes. We aimed to evaluate the association between serum neurofilament light chain (NfL) and S100B biomarkers with the presence of neurological manifestations and functional prognosis in COVID-19 patients.

Methods: A multicenter prospective cohort study was conducted in three hospitals in the Emilia-Romagna region, Italy, from March 2020 to April 2022.

Stereo-EEG around the world: State of the art in Italy.

Stereo-EEG is not just a diagnostic examination but a complex methodology, requiring an accurate synthesis of many data (anatomical, clinical, neurophysiological, cognitive, metabolic, and genetic). The implantation scheme is decided based on a hypothesis (or hypotheses) of epileptogenic zone localization. Subsequently, intracerebral electrical stimulation is used to define the extent of highly functional cortical regions and to reproduce the clinical symptoms and signs associated with seizures.

Prognostic factors and impact of management strategies for status epilepticus: The STEPPER study in the Emilia-Romagna region, Italy.

Objective: The STEPPER (Status Epilepticus in Emilia-Romagna) study aimed to investigate the clinical characteristics, prognostic factors, and treatment approaches of status epilepticus (SE) in adults of the Emilia-Romagna region (ERR), Northern Italy.

Methods: STEPPER, an observational, prospective, multicentric cohort study, was conducted across neurology units, emergency departments, and intensive care units of the ERR over 24 months (October 2019-October 2021), encompassing incident cases of SE. Patients were followed up for 30 days.

A Reappraisal on cortical myoclonus and brief Remarks on myoclonus of different Origins.

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.