Neuroglial biomarkers in autoimmune encephalitis: advances in diagnosis, prognosis, and pathophysiological insights.

Autoimmune encephalitis (AE) presents with a diverse spectrum of neuropsychiatric symptoms, often leading to diagnostic challenges and delays in treatment. Neuroglial biomarkers may improve AE diagnosis, disease monitoring, and prognostication. This review examines the diagnostic and prognostic value of fluid biomarkers in AE, focusing on markers of neuroaxonal damage, synaptic dysfunction, astroglial activation, and amyloid metabolism.

Safety and efficacy of rotigotine in patients with frontotemporal dementia: a phase 2, double-blind, randomized, placebo-controlled, multicenter trial.

Background: Frontotemporal dementia (FTD) is a common form of dementia with no approved pharmacological treatment. Clinical and experimental evidence suggest that dopaminergic transmission is impaired in FTD. Here we aimed at investigating the clinical impact of treatment with dopaminergic agonists in FTD.

Sex differences in antiseizure medications response in people with epilepsy: a systematic review.

Purpose: As a part of a wider project aimed to assess sex-related differences in adverse effects and efficacy of antiseizure medications (ASMs), we performed a systematic review focusing on differences in response to ASMs between males and females with epilepsy.

Method: We conducted a comprehensive literature search in the PubMed database. The search was conducted without restriction on publication date, and all results up to September 2022 were included.

Transfusion Thresholds and Neurological Functional Outcome After Acute Brain Injury: An Updated Systematic Review and Meta-Analysis of Randomized Clinical Trials.

: The benefits of liberal transfusion strategies for neurological outcomes in critically ill patients with acute brain injuries (ABIs) remain uncertain due to conflicting evidence and potential risks. This study aimed to evaluate the efficacy and safety of a liberal transfusion strategy in adults with ABI. : A systematic review of PubMed, Scopus, and the Cochrane Library was conducted from inception until 18 December 2024.

Self-Esteem and Psychopathology Differentially Relate to Real-Life and Social Functioning in People With 22q11.2 Deletion Syndrome.

Background: The 22q11.2 deletion syndrome (22q11.2DS) represents a genetic condition at higher risk of transition to psychosis.

Rasmussen encephalitis and localized scleroderma of the lower limb: Another piece of the puzzle. A case-report and literature review with individual participant data.

The co-occurrence of Rasmussen encephalitis (RE) and localized scleroderma (LS) is rare and poorly known. We describe the unique case of a 23-year-old patient with late-onset RE of the right hemisphere, emerging 15 years following LS of the left lower limb exclusively. Furthermore, through a systematic review of existing literature, we delineate distinct characteristics of RE concomitant with LS: a delayed onset compared to classical RE cases; its occurrence either preceding or succeeding LS; and the variable involvement of the ipsilateral or contralateral hemisphere to the affected craniofacial skin.

Can transcutaneous auricular vagus nerve stimulation be considered a viable adjuntive therapy in drug-resistant epilepsy? A systematic review and meta-analysis of randomized controlled trials.

Objective: Transcutaneous auricular vagal nerve stimulation (tVNS) has been investigated as a potential non-invasive therapy in addition to standard medical care in patients with drug-resistant epilepsy (DRE). This meta-analysis evaluates the efficacy and safety of tVNS compared to sham stimulation in patients with DRE.

Methods: A systematic search was conducted in three electronic databases (PubMed, Scopus, Cochrane) to identify randomized controlled trials (RCTs) comparing tVNS versus sham stimulation for the treatment of DRE.

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.

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.

EEG microstates during resting-state and dissociative events in patients with psychogenic non-epileptic seizures.

Objective: Previous neuroimaging studies indicate complex network alterations in psychogenic non-epileptic seizures (PNES) patients, but brain activity modifications occurring during PNES remain unexplored. This study aimed to analyze EEG microstate metrics in PNES patients both during events and resting state to investigate the neurophysiological changes underlying these dissociative events.

Methods: We recruited 22 PNES patients and 24 age- and sex-matched healthy controls.

Adjunctive Brivaracetam in People with Epilepsy and Intellectual Disability: Evidence from the BRIVAracetam Add-On First Italian netwoRk Study.

Introduction: Subjects with intellectual disability are usually excluded from clinical trials and there is limited evidence-based guidance for the choice of antiseizure medications in this vulnerable population. The study explored the effectiveness of brivaracetam (BRV) in people with epilepsy and intellectual disability.

Methods: BRIVAracetam add-on First Italian netwoRk Study (BRIVAFIRST) was a 12-month retrospective, multicenter study including adults prescribed adjunctive BRV.

Second-Line Medications for Women Aged 10 to 50 Years With Idiopathic Generalized Epilepsy.

Importance: Women with idiopathic generalized epilepsy (IGE) face challenges in treatment due to limited options that are both effective and safe.

Objective: To evaluate the effectiveness and safety of substitution monotherapy vs add-on therapy as second-line options for women who might become pregnant with IGE after failure of first-line antiseizure medications (ASMs) other than valproic acid.

Design, Setting, And Participants: Multicenter retrospective comparative effectiveness cohort study at 18 primary, secondary, and tertiary adult and children epilepsy centers across 4 countries, analyzing data from 1995 to 2023.

Phase 2 study of palmitoylethanolamide combined with luteoline in frontotemporal dementia patients.

Frontotemporal dementia is a devastating neurodegenerative disorder for which no pharmacological treatments have been approved. Neuroinflammation plays a central role in driving the pathogenic mechanisms underlying frontotemporal dementia. In the last few years, co-ultramicronized palmitoylethanolamide combined with luteoline has emerged as a potential therapeutic molecule in neurodegenerative disorders pathogenically related to frontotemporal dementia, for its demonstrated strong anti-inflammatory and neuroprotective properties.

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.

Unsupervised clustering of a deeply phenotyped cohort of adults with idiopathic generalized epilepsy.

Objective: Idiopathic generalized epilepsy (IGE) in adults comprise juvenile myoclonic epilepsy (JME), juvenile absence epilepsy (JAE), and epilepsy with generalized tonic-clonic seizures alone (EGTCS), which are defined by their seizure types but also cover a broad endophenotype of symptoms. Controversy exists on whether adult IGE is a group of distinct diseases or a clinical spectrum of one disease. Here, we used a deeply phenotyped cohort to test the hypothesis that IGE comprises three distinct clinical entities.

Phenotypic traits and family history in patients with 22q11.2 deletion syndrome and generalized epilepsy: A multicenter case-control study.

Objective: This study was undertaken to characterize the clinical and genetic features of patients with 22q11.2 deletion syndrome (22q11.2DS) and generalized epilepsy compared with 22q11.

Distinguishing seizures in autoimmune limbic encephalitis from mesial temporal lobe epilepsy with hippocampal sclerosis: Clues of a temporal plus network.

Objective: Diagnosing autoimmune limbic encephalitis (ALE) in adults with new-onset seizures can be challenging, especially when seizures represent the predominant manifestation and MRI findings are not straightforward. By comparison with mesial temporal lobe epilepsy with hippocampal sclerosis (MTLE-HS), this study aimed to identify ictal electro-clinical features that might help clinicians recognize ALE-related seizures.

Methods: This retrospective, multi-centre study analysed the ictal semiology and EEG correlate of 116 video-EEG-captured seizures in 40 ALE patients and 45 ones recorded in 21 MTLE-HS subjects.

Cognitive behavioral therapy in adults with functional seizures: A systematic review and meta-analysis of randomized controlled trials.

Background: Randomized controlled clinical trials (RCTs) investigating cognitive-behavioral therapy (CBT) among adults with functional seizures (FS) have become increasingly available, prompting the opportunity to critically appraise the efficacy and safety of CBT in this population.

Methods: We conducted a systematic review and meta-analysis including RCTs comparing CBT in addition to standardized medical treatment (SMT) versus SMT alone for adults with FS. The primary outcome was seizure freedom at the end of treatment.

Depressive symptoms in children and adolescents with epilepsy and primary headache: a cross-sectional observational study.

Background: The primary aims of our cross-sectional observational study were: (i) to determine the prevalence of depressive symptoms in children and adolescents with epilepsy compared to controls and (ii) to explore the difference in depressive symptoms in patients with epilepsy only and those with epilepsy and primary headache as a comorbidity. The secondary objective was to explore parental stress levels.

Methods: 68 pediatric patients aged 6-18 years (44 with epilepsy only and 24 with epilepsy and headache) and 50 controls were recruited.

Clinical features and genotype-phenotype correlations in epilepsy patients with de novo DYNC1H1 variants.

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.

A Novel KCNQ2 Variant in a Patient with a Combined Tremor Syndrome.

Background: Tremor disorders have various genetic causes.

Case Report: A 60-year-old female with a family history of tremor presented a combined tremor syndrome, transient episodes of loss of contact and speech disturbances, as well as distal painful symptoms. Genetic screening revealed a novel heterozygous missense variant in the KCNQ2 gene.

Salivary α-Synuclein as a Candidate Biomarker of Parkinsonism in 22q11.2 Deletion Syndrome.

Background: 22q11.2 deletion syndrome (22q11.2DS) has been linked to an increased risk of early-onset Parkinson's disease.