Epilepsy

13. August 2025

• Heart rate variability, quality of life, and sleep quality in patients with epilepsy
  13. August 2025
  CONCLUSION: We found that low heart rate variability was more common in patients with epilepsy. Quality of life was also highly impaired in drug-resistant epilepsy, and low heart rate variability correlated with low cognition and emotional well-being in patients with epilepsy.
• Integrated Genomic Approach: A Five Exon Intragenic Deletion in UNC80 Combines With a Novel Splice Variant to Cause IHPRF2 Syndrome in an Italian Family
  13. August 2025
  Rare diseases impact ~6%-8% of the population, thus constituting an issue for public health worldwide. The increasing application of genomic technologies in the routine diagnosis of these conditions is documenting the need to integrate multiple techniques in the most complex cases. We describe a 14-year-old boy and his 4-year-old sister, both presenting with neonatal hypotonia, severe global developmental delay, major feeding difficulties with the need for assisted nutrition, inability to speak...
• Brain morphology normative modelling platform for abnormality and centile estimation: Brain MoNoCle
  13. August 2025
  Normative models of brain structure estimate the effects of covariates such as age and sex using large samples of healthy controls. These models can then be applied to, for example, smaller clinical cohorts to distinguish disease effects from other covariates. However, these advanced statistical modelling approaches can be difficult to access, and processing large healthy cohorts is computationally demanding. Thus, accessible platforms with pre-trained normative models are needed. We present...
• Bundle-specific tractography approach for identifying white matter microstructural changes following traumatic brain injury in rats: An EpiBioS4Rx study
  13. August 2025
  Traumatic brain injury (TBI) presents a major global health concern, characterized by a variety of negative long-term neurological outcomes. Current diagnostic tools lack the sensitivity to fully capture the complex pathophysiology of TBI and predict long-term consequences, underscoring the need for robust methods for biomarker detection. This study, conducted within the multicenter Epilepsy Bioinformatics Study for Antiepileptogenic Therapy (EpiBioS4Rx) framework, used a standardized lateral...
• Consistency of resting-state correlations between fMRI networks and EEG band power
  13. August 2025
  Several simultaneous electroencephalography (EEG)-functional magnetic resonance imaging (fMRI) studies have aimed to identify the relationship between EEG band power and fMRI resting-state networks (RSNs) to elucidate their neurobiological significance. Although common patterns have emerged, inconsistent results have also been reported. This study aims to explore the consistency of these correlations across subjects and to understand how factors such as the hemodynamic response delay and the use...
• Task demands shape network interactions during reading and visual form processing
  13. August 2025
  Current theories of reading, based largely on lesion studies, propose that left fusiform gyrus (FusG) is a crucial hub linking visual inputs into the perisylvian language system. However, FusG is also involved in visual form processing more generally, raising the question of whether its engagement with language cortex and other relevant brain regions changes according to task demands, and whether this flexibility is linked to reading proficiency. To answer these questions, we exploit a large,...
• Adaptive multi-scale phase-aware fusion network for EEG seizure recognition
  13. August 2025
  INTRODUCTION: Epilepsy is a neurological disorder characterized by sudden, abnormal discharges of neuronal activity in the brain. Electroencephalogram (EEG) analysis is the primary technique for detecting epileptic seizures, and accurate seizure detection is essential for clinical diagnosis, therapeutic intervention, and treatment planning. However, traditional methods rely heavily on manual feature extraction, and current deep learning-based approaches still face challenges in frequency...
• Combination Therapy with Pyridoxine and Arginine Supplementations along with a Lysine-Restricted Diet in Individuals with Pyridoxine-Dependent Epilepsy: A Comprehensive Systematic Review
  13. August 2025
  CONCLUSIONS: In summary, administration of pyridoxine is highly effective, particularly when combined with AS and an LRD. Triple therapy illustrates promise for improved seizure control and cognitive function, especially when initiated early. Further research is warranted.
• Respiratory Arousal Threshold in Patients with Epilepsy and Obstructive Sleep Apnea
  13. August 2025
  CONCLUSION: Our study provides insights into the presence of a low rAT in PWE+OSA, with no significant difference in its ratio compared to OSA controls. However, since rAT was estimated using a predictive model rather than direct measurement, this limitation may affect the interpretation of our findings. Further studies using gold-standard methods are needed to clarify the underlying mechanisms contributing to the higher OSA prevalence in PWE.
• Tractography from T1-weighted MRI: Empirically exploring the clinical viability of streamline propagation without diffusion MRI
  13. August 2025
  Over the last few decades, diffusion MRI (dMRI) streamline tractography has emerged as the dominant method forin vivoestimation of white matter (WM) pathways in the brain. One key limitation to this technique is that modern tractography implementations require high angular resolution diffusion imaging (HARDI). However, HARDI can be difficult to collect clinically, limiting the reach of tractography analyses to research cohorts and thus limiting many WM investigations to certain populations and...
• Hippocampal microscopic fractional anisotropy is reduced in temporal lobe epilepsy
  13. August 2025
  Surgical resection is the method of choice for treating drug-resistant focal temporal lobe epilepsy (TLE). Postsurgical outcomes are better when magnetic resonance imaging (MRI) findings can localize the seizure focus for resection. However, many patients are MR-negative, meaning the focus cannot be differentiated from normal tissue in relaxation-weighted MRI. Diffusion MRI shows promise as a preoperative marker of neuronal abnormalities due to its sensitivity to cellular changes such as axon...
• Clinical features and genetic analysis of epilepsy caused by CLCN4 gene mutation: a case report and literature review
  13. August 2025
  CONCLUSIONS: A review of the existing literature identified only 60 cases, demonstrating a wide phenotypic spectrum. ID of varying degrees is observed in the majority of patients. Seizures typically commence in infancy and early childhood and manifest as multiple types, with focal seizures and generalized tonic-clonic seizures being the most common. Notably, missense variants may lead to a more severe phenotype compared to frameshift variants, and the p. Pro369Leu variant may represent a...
• Exploring Chinese family caregiver vigilance in preventing hospitalized children falls from the attention network theory perspective: a qualitative study
  13. August 2025
  CONCLUSIONS: Family caregivers have a low level of vigilance in preventing falls among hospitalized children, and they do not pay sufficient attention to the prevention of such incidents, with attention bias existing. Medical staff should change the attention allocation of family caregivers through multiple educational ways to reduce the occurrence of falls.
• Left and right vagus nerve stimulation: historical perspectives, clinical efficacy, and future directions
  13. August 2025
  Neuromodulation has profoundly transformed medical science, offering new treatments for various neurological conditions. Stimulation techniques that target the brain, spinal cord, trigeminal nerve, and vagus nerve (VN) use electrical impulses to modulate neural functions. Among these, vagus nerve stimulation (VNS) is distinguished for its use to stimulate the VN to modulate neural functions. VNS shows promising applications across a wide range of neurological conditions, exemplifying the ongoing...
• Migraine and functional neurological disorder (FND)-a review of comorbidity and potential overlap
  13. August 2025
  Migraine and functional neurological disorder (FND) are two of the most common conditions in neurological practice. It is assumed that the two conditions have distinct underlying mechanisms. However, it can be clinically challenging to disentangle their relative contributions to a patient's symptoms. In addition, apart from the relationship between persistent postural perceptual dizziness (PPPD) and migraine, the frequency of co-occurrence has not been characterized in detail. Contemporary...
• Functional Characterization of Two Novel Biallelic PIGV Variants in a Patient With Myoclonic Seizures and Elevated Alkaline Phosphatase: A Case Report
  13. August 2025
  Post-translational modifications, such as glycosylation and phosphorylation, play a critical role in protein trafficking, interactions, and stability. Disruptions in these pathways can lead to glycosylphosphatidylinositol (GPI) deficiencies, which present with a spectrum of clinical features, including congenital anomalies, dysmorphic features, developmental delay, hypotonia, and epilepsy. Biallelic variants in PIGV, a key mannosyltransferase in GPI biosynthesis, cause Hyperphosphatasia with...
• Molecular Windows into the Brain: Advances in BBB-Penetrable NIR Fluorescent Imaging Probes
  13. August 2025
  The blood-brain barrier (BBB) is a highly selective permeability barrier that restricts the delivery of diagnostic and therapeutic agents to the brain. Recent advances in near-infrared (NIR) fluorescent probes capable of crossing the BBB have enabled noninvasive in vivo imaging and diagnosis of brain disorders, including depression, epilepsy, stroke, glioma, Alzheimer's disease (AD), and Parkinson's disease (PD). This review highlights the latest developments in the design of BBB-penetrable NIR...
• Anterior Versus Posterior Insular Epilepsy: Correlations with Semiology Based on Stereoelectroencephalography
  13. August 2025
  OBJECTIVE: To characterize insular seizure semiology and correlate with stereoelectroencephalography (SEEG) seizure onset in a well-defined cohort, in particular examining differences between anterior and posterior insular seizures.
• A Comprehensive Theoretical Study of Anti-Epileptic Drug Design: DFT, TD-DFT, and Molecular Docking Approach
  13. August 2025
  CONCLUSION: EP5 exhibited the enhanced performance due to the presence of the electron withdrawing group in the acceptor region, extended conjugation, and better charge transference could be the best drug efficiency. During molecular docking, the robust interactions in EP5 with the antiepileptic proteins (4EY7 and 7SK2) showed an excellent structural template among the designed drugs. Among them, EP5 has better structural properties as an antiepileptic drug for future drug discovery.
• Betaine: A Promising Natural Product for Neurological and Psychiatric Diseases
  13. August 2025
  Neurological and psychiatric diseases pose a considerable global burden. Exploring additional potential prevention strategies and therapies is ongoing. As a prevalent natural product and nutraceutical from food, betaine's pharmaceutical applications suggest benefits for both health and disease in multiple organs. Recently, its efficacy on neurological and psychiatric health has been proposed and has drawn considerable attention. This review aims to provide an updated, critical, and comprehensive...
• High-efficiency co-registration of OPM-MEG and MRI using point cloud processing
  13. August 2025
  Optically pumped magnetometers (OPMs) offer high temporal and spatial resolution for magnetoencephalography (MEG) applications, particularly in noninvasive brain mapping and epilepsy diagnosis. However, effective MEG-MRI co-registration remains challenging. This study presents a novel co-registration technique utilizing OPMs to achieve rapid registration speeds and submillimeter precision, addressing the limitations of traditional methods. We developed an indirect registration method that...
• Evaluating the DMFT and dmft indices in people with epilepsy: A systematic review and meta-analysis
  13. August 2025
  CONCLUSION: This study highlights the concerning disparity in oral health among individuals with epilepsy, particularly regarding permanent teeth. The findings underscore the necessity for targeted dental care interventions and preventive strategies tailored to meet the unique needs of this population. By improving awareness and access to dental care, healthcare providers can enhance the overall quality of life for individuals living with epilepsy. Further research is warranted to explore...
• Cross-sectional and longitudinal changes in category selectivity in visual cortex following pediatric cortical resection
  13. August 2025
  The topographic organization of category-selective responses in human ventral occipitotemporal cortex (VOTC) and its relationship to regions subserving language functions is remarkably uniform across individuals. This arrangement is thought to result from the clustering of neurons responding to similar inputs, constrained by intrinsic architecture and tuned by experience. We examine the malleability of this organization in individuals with unilateral resection of VOTC during childhood for the...
• Focused ultrasound suppresses pentylenetetrazol-induced epileptiform activity in rats and alters connectivity measured by functional MRI
  13. August 2025
  Focused ultrasound (FUS) has emerged as a promising neuromodulation technique for reducing regional brain excitability, offering a potential therapeutic approach for drug-resistant epilepsy (DRE). However, its underlying mechanisms remain unclear, particularly regarding functional connectivity alterations in seizure-related brain networks. This study investigates the relationship between FUS-induced seizure suppression and brain functional connectivity using EEG and resting-state fMRI (rs-fMRI)....
• Neurological disorders in pediatric emergency department: From consultation to follow-up of first epileptic seizures
  12. August 2025
  CONCLUSION: Based on these results, establishing specialized neurological care networks would enhance patient management and ensure better implementation of HAS recommendations.
• Academia, industry and the slow adoption of new treatments
  12. August 2025
  No abstract
• Quality assurance in the randomized multicentre phase III trial EORTC-1709-BTG/CCTG CE.8 (MIRAGE) for glioblastoma: Results of the radiotherapy delineation benchmark case procedure
  12. August 2025
  CONCLUSIONS: Variations in the delineation of target volumes and organs at risk were frequently judged as "unacceptable" during the RTQA review process. Besides a significant increase of CTV coverage, the impact of variations on organ at risk dosimetry was minor, suggesting a potentially negligible effect on toxicity outcomes. Quantitative metrics to assess delineation variations should be explored to improve the RTQA process in clinical trials and routine practice, aiming to flag delineation...
• Sudden Unexpected Death in Epilepsy (SUDEP) Summit: Recommendations and priorities for clinical action, awareness, public health and epidemiology, and basic science
  12. August 2025
  BACKGROUND: It remains difficult to predict who will succumb to Sudden Unexpected Death in Epilepsy (SUDEP). As the mechanisms for SUDEP remain unknown, there are not adequate strategies to prevent SUDEP. Thus, some providers are reluctant to discuss SUDEP risk with patients. Public health surveillance and prevention efforts are limited. The SUDEP Summit aimed to identify gaps in the field and prioritize recommendations to advance basic science, clinical care, and public health approaches to...
• The American academy of sleep medicine position statement on sleepiness: A world sleep society international sleep medicine practice recommendations committee perspective
  12. August 2025
  No abstract
• Correction to: Heterozygous variants in USP25 cause genetic generalized epilepsy
  12. August 2025
  No abstract
• Discovery and In-Vivo Characterization of K_v7 Channel Openers through a Phenotypic Approach
  12. August 2025
  Despite the availability of approximately 30 antiseizure drugs (ASDs), epilepsy remains a major unmet clinical need, with approximately 30% of epileptic patients experiencing uncontrolled seizures despite an adequately chosen treatment. Polypharmacology is a common feature of many ASDs and polypharmacy is a usual practice to treat epileptic patients. Several approved ASDs were originally discovered through phenotypic screening in rodent models of seizures. To overcome the technical and ethical...
• Detecting poststroke epilepsy in nationwide administrative data: A validation study using Swedish registers
  12. August 2025
  OBJECTIVE: Healthcare administrative data often rely on the International Classification of Diseases (ICD) system, which lacks specific codes to identify etiological subgroups of epilepsy. Combining indicators for epilepsy and potential etiologies is possible, but such approaches require validation. This study aimed to validate methods for identifying poststroke epilepsy (PSE) in Swedish administrative data.
• The impact of sleep apnea on epilepsy treatment outcomes
  12. August 2025
  No abstract
• Real-world comparison of first-line antiseizure monotherapy and the role of age at treatment initiation in newly diagnosed childhood epilepsy: A cohort study from a tertiary center
  12. August 2025
  OBJECTIVE: This study was undertaken to evaluate the real-world effectiveness and tolerability of first-line antiseizure medication (ASM) monotherapy in children with newly diagnosed epilepsy, focusing on comparative outcomes across developmental age groups and ASM types, and identifying clinical risk factors of treatment failure.
• Seizures and electroencephalographic findings in inborn errors of metabolism: Clues to differential diagnosis in the neonatal period, infancy, childhood and adolescence, and review of the literature
  12. August 2025
  Although inborn errors of metabolism (IEM) are a rare cause of epilepsy, seizures are a common presentation in these disorders. Seizures in IEM are frequently refractory to conventional anti-seizure medication and might warrant initiation of specific treatments based on vitamins or dietary modifications or provision of alternative substrates (to bypass a block). In most IEMs, seizures present with variable and non-specific semiology and EEG findings. Nevertheless, certain distinctive...
• Implementation of a digital health tool for seizure video transfer in a pediatric epilepsy center: A prospective pilot study
  12. August 2025
  Home videos are increasingly presented in clinical practice, and secure digital tools for clinical video sharing are urgently needed. This study evaluated the feasibility of a secure video-sharing digital platform in pediatric epilepsy diagnostics. We conducted a prospective pilot study that included 60 children (median age 5.5 years) with suspected seizures and their caregivers at a tertiary pediatric center. Participants were invited to submit videos of suspected events through a secure...
• First case reports of intentional Imepitoin overdose in humans: A case of two patients
  12. August 2025
  We report two cases of acute imepitoin overdose, a partial GABA-A receptor agonist. The first case involved a caucasian women of 22-year-old patient who ingested 20-24 g of imepitoin in a suicide attempt, presenting with central nervous system depression and mydriasis. The second case involved a caucasian male of 31-year-old patient who ingested 6-8 g of imepitoin along with other psychiatric medication, paracetamol, and ibuprofen. This patient presented with somnolence and bradylalia. Both...
• Association of SCN1A Gene Polymorphisms with Sodium Valproate Resistance in Pediatric Epilepsy: A Retrospective Case-Control Study
  12. August 2025
  CONCLUSION: Mutation in the SCN1A gene, specifically rs166859148, rs166894396, rs166848482, rs166915162, rs166870333-335, may contribute to resistance to sodium valproate in pediatric epilepsy. Mutations in rs166915162 and rs166870333-335 were associated with reduced plasma levels of sodium valproate, while the rs166870333-335 mutation is linked to generalized seizure types in patients with drug-resistant epilepsy.
• Silencing epileptic storms: targeting miRNA-lncRNA crosstalk in astrocytes and microglia to disarm neuroinflammatory triggers
  12. August 2025
  Epilepsy is a chronic neurological disorder characterized by abnormal synchronous discharges of neurons in the brain. It affects approximately 70 million people worldwide, and approximately 30% of patients are resistant to existing antiepileptic drugs. Repeated seizures can lead to neuronal damage, glial cell activation and neuroinflammation, creating a vicious cycle of seizures, inflammation, and neuronal damage. Recent studies have shown that microRNAs play a key role in the pathological...
• Investigating biomarkers for personality alterations in temporal lobe epilepsy patients: based on peripheral inflammatory indices, electroencephalography, and neuroimaging
  12. August 2025
  CONCLUSIONS: MLR was markedly elevated in patients with TLE relative to healthy controls. Hippocampal sclerosis or atrophy constituted an independent risk factor for personality alterations in TLE, although monotherapy seemed to serve as a protective factor.
• Ultra-low-dose ramelteon is useful for non-24-h sleep-wake rhythm disorder in a severe psychomotor handicapped child
  12. August 2025
  No abstract
• Executive Function and Adherence in Children and Adolescents Living With HIV: Evidence From the HIV-Associated Neurocognitive Disorders in Zambia (HANDZ) Study
  12. August 2025
  IntroductionExecutive function may be impaired in people with human immunodeficiency virus (HIV) infection, and poor executive function may affect medication adherence. However, there is little data on executive function in children and adolescents with perinatally acquired HIV in sub-Saharan Africa.MethodsA total of 208 children/adolescents with perinatally acquired HIV and 208 HIV-exposed uninfected controls were recruited in Zambia for this prospective cohort study. Executive function was...
• A Correlation between Inflammatory Factors and Epileptic Seizures: A Meta-analysis
  12. August 2025
  CONCLUSION: The IL-1β, IL-6, and TNF-α levels are increased in individuals with epileptic seizures, which could serve as effective biomarkers for epileptogenesis.
• Factors associated with lateralized cognitive dysfunction using the Cognitive Lateralization Rating Index in pediatric epilepsy
  12. August 2025
  CONCLUSIONS: Results establish the CLRI as a potentially useful tool for both research and clinical care to quantitively stratify cognitive risk profiles for pediatric epilepsy surgery evaluations.
• Cross-species analysis of adult hippocampal neurogenesis reveals human-specific gene expression but convergent biological processes
  12. August 2025
  Immature dentate granule cells (imGCs) arising from adult hippocampal neurogenesis contribute to plasticity, learning and memory, but their evolutionary changes across species and specialized features in humans remain poorly understood. Here we performed machine-learning-augmented analysis of published single-nucleus RNA-sequencing datasets and identified macaque imGCs with transcriptome-wide immature neuronal characteristics. Our cross-species comparisons among humans, monkeys, pigs and mice...
• Theta-phase locking of single neurons during human spatial memory
  11. August 2025
  Memory processes may rely on complex interactions between single-neuron activity and local field potentials. To better understand such spike-field relationships in humans, we examined human theta-phase locking-neuronal firing at similar theta phases over time-using single-neuron recordings in epilepsy patients performing a spatial memory task. Applying frequency-adaptive theta-phase estimation in a broad 1-10 Hz frequency range, we found that theta-phase locking was widespread in the human...
• Late-onset vanishing white matter disease: clinical and genotypic insights from the oldest reported patient
  11. August 2025
  Vanishing white matter disease (VWMD) is typically diagnosed in childhood or early adulthood. Here, we report a case of a woman in her early 70s presenting with new-onset seizures and rapidly progressive cognitive and motor decline. Brain MRI revealed diffuse white matter rarefaction with cystic degeneration, and genetic testing identified compound heterozygosity in the EIF2B5 gene (p.Arg113His and p.Met305Leu), confirming the diagnosis. The delayed presentation may reflect a milder...
• Spatiotemporal Dynamics of Language Information Representation within the Left Inferior Parietal Lobule Network: An Intracranial SEEG Study
  11. August 2025
  The left inferior parietal lobe (IPL) supports diverse cognitive functions through the finely differentiated yet coordinated interactions of its subregions, including the supramarginal gyrus (SMG), angular gyrus (AG) and lateral bank of the intraparietal sulcus (lbIPS). However, how these subregions dynamically represent and exchange information during cognitive processing remains unclear. Language processing, integrating visual form, phonology, and semantics, provides an ideal model for...
• Disease burden and economic losses associated with Taenia solium cysticercosis in pigs and humans in Nigeria
  11. August 2025
  Taenia solium is a zoonotic parasite endemic in many low-income countries, including Nigeria, contributing to both human and animal health burdens. This study quantifies the disease burden and economic costs of T. solium cysticercosis in Nigeria through a meta-analysis and economic modelling approach. Data synthesis was performed using both fixed and random-effects meta-analysis, with reporting structured according to PRISMA guidelines. Additionally, economic models were applied to estimate...
• Obstructive sleep apnea syndrome in children with cerebral palsy in Brazil: a multicenter study
  11. August 2025
  CONCLUSIONS: The prevalence of HR-OSAS in Brazilian children with CP (GMFCS V) was higher than the frequency of OSAS in TD children assessed by polysomnography. HR-OSAS was significantly more prevalent in GMFCS V compared with GMFCS I-IV. Palatine tonsil hypertrophy was significantly associated with HR-OSAS. GMFCS V was significantly correlated with HR-OSAS due to its significantly higher prevalence of palatine tonsil hypertrophy. PosaST may be a reliable questionnaire for Brazilian children...
• Seizures and breathing: lessons from peri-ictal respiratory disturbances
  11. August 2025
  Breathing can be disrupted by pathological neurological conditions, such as seizures. Ictal respiratory changes comprise central or obstructive apnea, tachypnea, bradypnea, hypoventilation, and hypoxemia. Ictal central apnea (ICA) has been described in association with focal seizures, especially of temporal origin, occurring in 36%-40% of ictal events. Longer ICA duration typically produces hypoxemia, being observed in 33-41% of cases. PCCA (post-convulsive central apnea) has been described in...
• A Multivariable Model to Predict Risk of Dementia or Death in Older Veterans With Traumatic Brain Injury
  11. August 2025
  BACKGROUND AND OBJECTIVES: Traumatic brain injury (TBI) is associated with increased risk of both death and dementia in older adults, but no prognostic models currently exist to help identify which individuals are at greatest risk of long-term adverse outcomes. Our primary objective was to develop a single prognostic model that uses electronic health record (EHR) data to predict 5-year risk of dementia or death in older veterans who have experienced TBI.
• First clinical diagnosis of FAME3 via commercial Long-Read sequencing reveals mosaic repeat expansion in MARCHF6 gene
  11. August 2025
  Familial Adult Myoclonic Epilepsy type 3 (FAME3) is a rare autosomal dominant disorder characterized by cortical tremor and epilepsy, caused by a noncoding pentanucleotide repeat expansion (TTTTA/TTTCA)(n) in the MARCHF6 gene. Conventional genetic testing often fails to detect this expansion due to its repetitive structure and intronic location. We evaluated a 61-year-old woman with refractory myoclonic and generalized tonic-clonic seizures, whose prior genetic testing-including exome and genome...
• Seizure self-efficacy and psychosocial outcomes in pediatric epilepsy: a cross-sectional study on quality of life and stigma
  11. August 2025
  CONCLUSION: Seizure self-efficacy is a modifiable psychological factor strongly linked to psychosocial well-being in pediatric epilepsy. The dual-perspective approach adopted in this study provides a more comprehensive understanding of disease burden. Targeted interventions that enhance self-efficacy and reduce stigma may lead to improved quality of life outcomes for both children and their families.
• Discovery of Novel Antiepileptic Agents Targeting the α1β2γ2 GABA_A Receptor
  11. August 2025
  The type A γ-aminobutyric acid receptor (GABA(A)R) has been explored as a prime antiepileptic target. Herein, we designed and synthesized a series of purine-containing derivatives and further evaluated their efficacies as positive allosteric modulators (PAMs) of α1β2γ2 GABA(A)R in a newly validated MQAE-based fluorescence assay. Among these, compound 10 demonstrated the highest potency, enhancing the GABA(A)R function by 36% at 10 μM. This activity was further confirmed by patch-clamp...
• Peri-Insular Sulci and Vascular-Guided Transsylvian Hemispherotomy: 2-Dimensional Operative Video
  11. August 2025
  No abstract
• Clinical applications and mechanisms of vagus nerve stimulation in the treatment of immune diseases: a review
  11. August 2025
  Vagus nerve stimulation (VNS) is a widely used neurostimulation technique for managing neurological diseases such as drug-resistant epilepsy and depression. Moreover, VNS has shown considerable potential for application in immune diseases. Herein, clinical studies on VNS application in immune disease treatments, such as for rheumatoid arthritis and Crohn's disease, have been systematically reviewed, with a focus on stimulation methods, clinical efficacy, mechanisms of action, and safety. This...
• Extraocular features of Leber hereditary optic neuropathy: A scoping review
  11. August 2025
  CONCLUSION: Early detection of these systemic manifestations, especially in cardiac and neurological systems, could help with prompt intervention and improve patient outcomes. Further research into gene therapy and mitochondrial replacement techniques holds promising potential for developing more effective treatment strategies.
• Novel Medication Ganaxolone for Seizure Disorders
  11. August 2025
  Ganaxolone, a neuroactive steroid that increases GABAergic inhibition, has been tested in many trials for the resolution of different epileptic disorders. Based on these, our study implemented a systematic review to evaluate the general benefit of ganaxolone for seizures. Pubmed, google scholar, European PubMed Central, Cochrane Library, and U.S. National Library of Medicine Clinical Trials were searched for relevant randomized controlled trials (RCTs) up to March 2023 and 12 RCTs were included...
• Glymphatic System Dysfunction in Elderly Patients with Late-Onset Epilepsy and Comorbid Chronic Insomnia Revealed by Diffusion Tensor Imaging Along the Perivascular Space (DTI-ALPS)
  11. August 2025
  CONCLUSION: These results suggest that the GS is dysfunctional in LOE and may exacerbate sleep disruption and cognitive impairments.
• Diazepam buccal film: a breakthrough in pediatric epilepsy management
  11. August 2025
  No abstract
• Erratum: Invasive Neurostimulation During Pregnancy for Treatment of Epilepsy and Tourette Syndrome: Maternal and Fetal Outcomes
  11. August 2025
  [This corrects the article DOI: 10.1212/CPJ.0000000000200498.].
• Downstream Revenue Generated After Visits to Neurologists: A Claims-Based Analysis of Medicare Data
  11. August 2025
  BACKGROUND AND OBJECTIVES: To determine downstream revenue of neurologists compared with nonneurologists after incident diagnostic visits by analysis of Medicare claims.
• Hypoglycemic Seizure: Etiologies and Neurological Outcome in Two Differential Age of Children (Five Year Descriptive Study)
  11. August 2025
  CONCLUSION: This study reveals that we can help prevent hypoglycemia by maternal education on breast-feeding and avoiding early patient discharge. Regarding the post-neonatal group, parental education on the proper application of insulin can prevent probable seizure and other consequences.
• Determining Potential Risk Factors for Epilepsy in Children with Neonatal Hypoglycemia
  11. August 2025
  CONCLUSION: Neonatal hypoglycemia significantly raises the likelihood of developing epilepsy in later childhood. This risk is particularly high when the newborn requires an extended stay in the NICU, experiences delayed onset of hypoglycemia, or has a family history of epilepsy. Prompt recognition and focused intervention for newborns with these risk factors are essential to minimize the chances of developing epilepsy and related neurodevelopmental issues.
• Two-year longitudinal and prospective electroencephalographic follow-up in patients with TBI: can early EEG and CT findings predict post-traumatic epilepsy?
  11. August 2025
  CONCLUSION: This comprehensive approach provides valuable insights for clinical management and sheds light on the complex interplay of factors influencing TBI outcomes.
• Vagal Nerve Stimulation Device-Induced Second-Degree Heart Block and Sinus Pauses
  11. August 2025
  A 41-year-old male with a history of preterm birth, intellectual disability, and refractory epilepsy on multiple anti-seizure medications with an active vagus nerve stimulation device (VNS) presented for progressive lethargy and a global decline in health. The symptoms began two years after placement of a second VNS, as the first was removed years earlier due to infection complications. At the time of the lethargy and global decline presentation, the VNS was set at an output of 3.25 mA. On...
• A Bibliometric Analysis on Research Trends in Paediatric Epilepsy Treatment From 2005 to 2025
  11. August 2025
  The objective of this bibliometric analysis was to evaluate trends in paediatric epilepsy treatment research from 2005 to 2025. Through assessing which journals, countries, authors, and institutions have been the most productive and mapping trends in keywords used over time, the study aims to reveal emerging areas of interest and inspire ideas for future research. A total of 1418 relevant documents were retrieved from the Web of Science database. Documents outside of the target time period and...
• Comparison of Levetiracetam Versus Sodium Valproate as a Monotherapy in Early Childhood Epilepsy
  11. August 2025
  CONCLUSION: Levetiracetam appears to be more effective and better tolerated than sodium valproate for the management of pediatric epilepsy. These findings suggest that levetiracetam could be considered a preferred first-line monotherapy. However, further longitudinal studies are warranted to validate these outcomes over longer treatment durations.
• Levetiracetam induced obsessive-compulsive disorder in a patient of epilepsy
  11. August 2025
  No abstract
• Prospective assessment of depression and suicidality in patients with epilepsy having baseline NDDI-E Scores > 13: Associations with seizure frequency and psychiatric treatment
  11. August 2025
  The Neurological Disorders Depression Inventory for Epilepsy (NDDI-E) is commonly used to screen for major depressive disorder (MDD) in patients with epilepsy, yet little is known about longitudinal changes in NDDI-E scores in relation to seizure control and psychiatric care. This study evaluated temporal changes in NDDI-E total and Item 4 scores (ΔNDDI-E, ΔItem 4) over ≥6 months in 34 adults (≥18 years) with baseline NDDI-E scores >13. Patients were seen in a specialized outpatient psychiatry...
• Case Report: Hypoinsulinaemic Hypoketotic Hypoglycaemia Due to an Activating Variant in AKT2
  11. August 2025
  AKT2 is a serine/threonine kinase that plays a key role in regulating insulin signalling. The gain-of-function alteration in the AKT2 gene (c.49G>A, p.Glu17Lys) has been described in 9 patients with clinical findings consisting in severe persistent hypoketotic, hypofattyacidaemic, hypoinsulinaemic fasting hypoglycaemia, hemihypertrophy and obesity. A new patient with the same activating AKT2 alteration leading to autonomous activation of the insulin signalling pathway and dysmorphic features is...
• Discovery of Novel Isoindolin-1-one Derivatives as GABA_A Receptors Positive Allosteric Modulators with Antiepileptic Efficacy
  11. August 2025
  Epilepsy is one of the most common and life-threatening neurological diseases, and the GABA(A)Rs are important therapeutic targets for epilepsy. Herein, a series of novel 2,7-disubstituted isoindolin-1-one derivatives were designed and synthesized, and extensive structure-activity relationships led to a number of highly potent PAMs of GABA(A)Rs with EC(50) values at 10^(-7)-10^(-8) M level and E(max) value of 5-15-fold. In particular, Cpd48 exhibited strong in vitro potentiation effects toward...
• BK channel activity in skin fibroblasts from patients with neurological disorder
  11. August 2025
  Seventy-five unique variants in the KCNMA1 gene have been identified from individuals with neurological disorders. However, variant pathogenicity and evidence for disease causality are lacking in most cases. In this study, the KCNMA1 variants N999S and E656A (rs886039469 and rs149000684, respectively) were investigated from two individuals presenting with neurological disorders. N999S was previously shown to produce strong gain-of-function (GOF) changes in homomeric BK channel properties in...
• Gastrodin from the Gastrodia elata Blume alleviates neuronal inflammation and injury via regulates NOX2/Nrf2 balance
  10. August 2025
  CONCLUSION: GAS can reduce inflammation and apoptosis in nerve cells by affecting the NOX2/Nrf2 balance.
• INTEGRATIVE BEHAVIOR ANALYSIS, OXIDATIVE STRESS MARKERS DETERMINATION AND MOLECULAR DOCKING TO INVESTIGATE PROCONVULSANT ACTION OF BETALACTAMIC CARBAPENEMS
  10. August 2025
  Carbapenems are broad-spectrum β-lactam antibiotics widely used in critical and hospitalized patients. They are usually well tolerated; however, under certain conditions, these drugs are associated with central nervous system toxicity and proconvulsant activity. Here, we investigated the proconvulsant action of different generation carbapenems: imipenem (IMI), meropenem (MERO), and ertapenem (ERTA) in mice through behavioral analysis. We also propose possible molecular mechanisms for this side...
• A zebrafish model unravels the role of PHF21A in neurodevelopment and epilepsy
  10. August 2025
  CONCLUSION: These findings collectively suggest that PHF21A pathogenic variants exert substantial impacts on neurodevelopment and seizure disorders. The observed neuroanatomical alterations and epileptogenic activity in the zebrafish model reveal an important role of PHF21A in neurodevelopment and epilepsy.
• Clinico-psychosocial prediction for seizure emergencies: A multicenter derivation-validation study
  10. August 2025
  OBJECTIVES: To develop a multidimensional predictive model for emergency hospitalization due to recurrent epileptic seizures, aiming to reduce the burden on healthcare systems and improve patient outcomes through timely interventions and individualized support.
• PV and SOM cells play distinct causal roles in controlling network oscillations and stability
  10. August 2025
  The causal roles of parvalbumin (PV)- and somatostatin (SOM)-positive interneurons in regulating cortical oscillations and stability remain unclear. We developed a biologically grounded microcircuit model composed of excitatory (E), PV, and SOM neurons that explains key experimental findings, including the precise phase locking of PV cells, delayed firing of SOM cells, and the distinct effects of optogenetic perturbations. By perturbing the spike timing of cells while preserving their firing...
• Model-Dependent Attenuation of Seizures by Cinnabar
  10. August 2025
  Epilepsy is one of the most prevalent and severe neurological disorders, and it is inadequately controlled with currently available medications. While cinnabar (mercury(II) sulfide)-a traditional Chinese medicine-has historical application in epilepsy treatment, its therapeutic efficacy and underlying mechanisms are unclear. In this study, we find that cinnabar exerts model-dependent antiseizure efficacy in mice. Specifically, it significantly attenuates acute seizures, enhances the termination...
• Mannosylated fisetin/carveol lipid nanocapsules: brain-targeted dual therapy for modulation of epileptogenesis and cognitive deficits
  10. August 2025
  Pharmacological treatment of epilepsy is challenged by several barriers with the blood brain barrier (BBB) imposing the utmost restrictions to brain drug delivery. Antiepileptic drugs aim to reduce seizures frequency and severity while exerting minimal toxic effects. Herein, the merits of phytomedicine and brain targeted nanocarriers were combined for the control of seizures in a chronic epilepsy model. Fisetin (FS); a polyphenol and carveol (CAR); a limonene monoterpenoid were selected for...
• Role of hippocampus in epileptogenesis: new insights in the cross-talks between the underlying mechanisms
  09. August 2025
  As a component of the limbic system, the hippocampal region, one of the deep structures of the medial temporal lobe, is a complex structure involved in a wide range of cognitive processes, including declarative memory, spatial memory, and emotional reactions. The subiculum, the dentate gyrus (DG), and the cornu of Ammonis (CA)-which includes the four subfields CA4, CA3, CA2, and CA1-make up the hippocampus. The hippocampus is known to have the lowest seizure threshold. Therefore, the hippocampus...
• Factors predicting seizure control and delivery outcomes in women with epilepsy with planned and unplanned pregnancy
  09. August 2025
  CONCLUSION: Seizure control prior to pregnancy, epilepsy type, adherence to ASM therapy, and pregnancy planning are potential factors influencing both seizure control and delivery outcomes in WWE. Our findings imply that systematic preconception counseling is crucial to preventing seizure deterioration in pregnancy and reducing the maternal and fetal complications.
• Artificial intelligence in forensic neuropathology: A systematic review
  09. August 2025
  CONCLUSIONS: In conclusion, this paper presents a comprehensive overview of the key neuropathology areas where the application of artificial intelligence can be valuable in investigating causes of death.
• Differences in the neuropsychological profiles of high-functioning TSC adults with and without epilepsy
  09. August 2025
  CONCLUSIONS: This study highlights the existence of two distinct cognitive phenotypes among high-functioning adults with TSC, based on epilepsy status. Epilepsy in this cohort is associated with global cognitive dysfunction, particularly affecting attention, executive control, and memory. These findings underscore the need for individualized cognitive assessment and targeted intervention strategies, especially in individuals with a history of epilepsy.
• Repetitive transcranial magnetic stimulation for the treatment of focal drug-resistant epilepsy: A crossover, randomized, single-blinded, sham-controlled clinical trial
  09. August 2025
  OBJECTIVE: To evaluate the efficacy and safety of low-frequency repetitive transcranial magnetic stimulation (LF rTMS) in patients with focal drug-resistant epilepsy (DRE) using a randomized, single-blinded, crossover design (NCT06681480 on ClinicalTrials.gov).
• Sleep-related disruptions potentially synergistically exacerbate attentional impairments in temporal lobe epilepsy, especially the alerting network
  09. August 2025
  CONCLUSION: SRD exacerbates attention dysfunction in patients with TLE, particularly within the alertness network. These findings highlight the critical role of sleep quality in managing cognitive function in TLE and suggest early intervention for patients with significant SRD to improve outcomes.
• Musical neurostimulation improves cognitive function in children with epilepsy and causes electroencephalogram changes
  09. August 2025
  CONCLUSIONS: Listening to Mozart's K. 448, Johann Sebastian Bach's Allegro, and Johann Christian Bach's Allegro di Molto is a promising approach for improving the cognitive function of children with epilepsy.
• Seizure and psychosocial outcomes in patients with DBS for intractable epilepsy
  09. August 2025
  CONCLUSION: DBS therapy resulted in > 50 % seizure reduction in 59 % of patients with intractable epilepsy, with responders exhibiting a higher median ASM burden. While psychosocial factors were not significantly linked to seizure outcomes, TR patients demonstrated a relative worsening of Depression T-scores compared to non-responders, warranting further investigation.
• Analysis of risk factors for recurrence after the withdrawal of ASMs in 135 children with epilepsy
  09. August 2025
  CONCLUSION: Abnormal EEG before withdrawal, polytherapy, and pretreatment duration > 1 year predicted recurrence. Enzyme-induction patterns showed exploratory associations requiring further validation.
• Cognitive dysfunction in systemic lupus erythematosus: A pilot study on the role of serum neuron-specific enolase levels
  09. August 2025
  IntroductionSystemic Lupus Erythematosus (SLE) is a chronic autoimmune disease that often manifests during productive years and frequently involves the central nervous system (CNS), including cognitive dysfunction, which occurs at twice the prevalence of the general population. While the Montreal Cognitive Assessment (MoCA) is effective for detecting mild cognitive impairment, no reliable biomarkers that indicate SLE patients at risk of cognitive dysfunction exist. Neuron-specific enolase (NSE),...
• Folate transfer across the placenta during late pregnancy in women with epilepsy: A cross-sectional, two-center study
  09. August 2025
  OBJECTIVE: In women with epilepsy who are treated with antiseizure medications (ASMs), folate concentrations in maternal serum may not be a good indicator of fetal folate supply, because ASMs can interfere with folate handling by the placenta. We aimed to assess the transplacental folate transfer at birth in persons with epilepsy in comparison to controls with no known epilepsy and identify factors affecting it.
• Treatment of epilepsy using newer antiseizure medications: A retrospective cohort study of prescription patterns in Sweden 2013-2022
  09. August 2025
  OBJECTIVE: This study aimed to analyze the choice of newly introduced antiseizure medications (ASMs; brivaracetam, cannabidiol, cenobamate, fenfluramine, and perampanel) by age and sex, and the use of these ASMs in relation to regulatory approval.
• Reliability and diagnostic accuracy of home video recording in differentiating sleep-related hypermotor epilepsy from disorders of arousal
  09. August 2025
  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.
• A companion to the development of common data elements for Sudden Unexpected Death in Epilepsy (SUDEP)
  09. August 2025
  OBJECTIVE: Sudden unexpected death in epilepsy (SUDEP) is a rare but devastating consequence of epilepsy and is the leading cause of death in people with epilepsy. SUDEP is associated with certain characteristics such as the presence of generalized tonic-clonic seizures, duration of epilepsy, and refractoriness to anti-seizure medications. Despite insights from in vivo models, gaps persist in understanding the biological causes of SUDEP, leading to a lack of preventative tools. Current SUDEP...
• Exploring the long-term effects of COVID-19 in patients with epilepsy: A multicenter Italian observational study
  09. August 2025
  OBJECTIVE: Coronavirus disease-19 (COVID-19), caused by SARS-CoV-2, has led to a global pandemic since December 2019. People with epilepsy (PwE) face higher risks of severe COVID-19 outcomes and may be more vulnerable to long-term neurological and psychiatric effects.
• Late-onset temporal lobe epilepsy: Enlarged amygdala-hippocampus indicates interictal epileptic activity at electroencephalography and memory impairment
  09. August 2025
  BACKGROUND: Late-onset temporal lobe epilepsy (TLE) sometimes manifests with enlargement of the amygdala or hippocampus. This study aimed to clarify the yet unknown clinical significance of amygdala-hippocampal enlargement in late-onset TLE.
• Seminar in Epileptology: Normal awake and sleep patterns, interictal abnormalities, and ictal patterns on scalp EEG
  09. August 2025
  The accurate interpretation of scalp EEG remains an instrumental diagnostic component of epilepsy care. Knowledge of what constitutes normal EEG findings, non-epileptiform abnormalities, and epileptiform patterns-both ictal and interictal-is essential for appropriate patient management. The International League Against Epilepsy (ILAE) has developed an educational curriculum containing learning objectives necessary to accurately diagnose and manage people with epilepsy. In this Seminar in...
• Cytokine, Chemokine, and Neurofilament Light Chain Signatures in LGI1 Autoimmune Encephalitis
  09. August 2025
  CONCLUSION: Elevations in IL-6, IL-8/CXCL8, and IL-17A were identified in this LGI1-AE cohort. CSF IL-6, IL-8/CXCL8, and NfL levels are potential prognostic biomarkers for risk of relapse and chronic epilepsy in LGI1-AE.
• Metabolic alterations associated with epileptic seizures detected by NMR spectroscopy
  08. August 2025
  Epilepsy affects over 50 million individuals worldwide. Despite the availability of anti-seizure medications, approximately 30% of patients remain drug-resistant, emphasizing the pressing need for alternative therapeutic strategies. In recent years, NMR-based metabolomics has emerged as a robust platform to investigate metabolic disturbances in neurological disorders, potentially improving diagnostic precision and explore individualized treatment options.In this study, we analysed serum...