Epilepsy

05. Juni 2025

• Child Neurology: A Case of Rasmussen Syndrome Without Seizures
  05. Juni 2025
  Rasmussen syndrome (RS) is a neuroimmune disease typically characterized by refractory focal epilepsy, epilepsia partialis continua, progressive focal neurologic deficits, and cognitive impairment. Seizures are often a presenting and prominent symptom, but RS may be diagnosed in the absence of seizures when a patient has 2 of the 3 Part B Bien criteria: (1) consistent histopathologic findings, (2) progression in unilateral cortical deficits, or (3) progression in focal cortical atrophy. We...
• Imaging of brain electric field networks with spatially resolved EEG
  05. Juni 2025
  We present a method for spatially resolving the electric field potential throughout the entire volume of the human brain from electroencephalography (EEG) data. The method is not a variation of the well-known 'source reconstruction' methods, but rather a direct solution to the EEG inverse problem based on our recently developed model for brain waves that demonstrates the inadequacy of the standard 'quasi-static approximation' that has fostered the belief that such a reconstruction is not...
• Potential of cenobamate as a broad-spectrum antiseizure medication
  05. Juni 2025
  INTRODUCTION: The process of diagnosing patients with epilepsy and selecting the optimal drug remains a significant challenge. Broad-spectrum antiseizure medications (ASMs) treat focal and generalized seizures without worsening other seizure types, making them the drug of choice when the exact seizure classification for patients is unknown. Cenobamate, an ASM approved for the treatment of adult focal seizures, has demonstrated strong efficacy, including high rates of seizure freedom. Evidence...
• De novo missense variants of KCNA3, KCNA4, and KCNA6 cause early onset developmental epileptic encephalopathy
  05. Juni 2025
  Shaker-type potassium channel genes (Kv1) have been linked to human epilepsies, including KCNA1 (Kv1.1), KCNA2 (Kv1.2), and more recently, KCNA3 (Kv1.3) and KCNA6 (Kv1.6). In this study, we report three early-onset epilepsy cases with de novo missense mutations in Shaker-type channel genes, including Kv1.3, KCNA4 (Kv1.4), and Kv1.6, identified through whole exome sequencing trio study. The newly identified Kv1.3-V478M, Kv1.6-T421I, and Kv1.4-V558L mutations are located within the channel...
• The genetic and phenotypic spectrum of GABRB1-related disorders
  05. Juni 2025
  Pathogenic variants in GABAA receptor subunits genes (GABR*) are important contributors to rare and common genetic epilepsies. Here, we present a comprehensive analysis of variants in GABRB1, which encodes the GABAA receptor β1 subunit, by revealing their functional implications, establishing genotype-phenotype correlations, and evaluating treatment response. Clinical information on individuals carrying a GABRB1 variant was obtained through an international collaboration and literature review....
• The effect of foliar spraying of silver and iron nanoparticles as fertilizers on the quantity, quality, and antimicrobial properties of Melissa officinalis L. essential oil
  05. Juni 2025
  Melissa officinalis L. as a medicinal plant used in traditional medicine to treat headaches caused by stress, anemia, nausea, dizziness, indigestion, colic, epilepsy, hysteria, cancer, and heart failure. The present study aimed to evaluate the effect of foliar spraying of silver and iron nanoparticles as fertilizers on yield, type, chemical compounds, and antimicrobial properties of M. officinalis leaf essential oil. For this purpose, plant cultivation was conducted in May 2020 as a completely...
• Juvenile Myoclonic Epilepsy Adventure: A Retrospective Study
  05. Juni 2025
  CONCLUSIONS: This study demonstrates that in patients with undiagnosed generalized epilepsy in childhood, seizure characteristics should be assessed through a thorough review of their medical history and careful monitoring during clinical follow-up to accurately determine the true incidence of JME.
• Hospital readmissions for ambulatory care sensitive conditions in children under 5 years old in the Unified Health System
  05. Juni 2025
  This study aimed to analyze readmissions for Ambulatory Care Sensitive Conditions (ACSC) in children under 5 years in the Unified Health System (SUS) between the years 2009 and 2015, to identify the main cause groups and associated factors. This retrospective cohort study used data from the National Health Database, an individual-centered database constructed from deterministic-probabilistic data matching from the main information systems of SUS. The study population consisted of children under...
• Stakeholders' perspectives on implementing and integrating patient-reported outcome measures (PROMs) in health systems - insights from Alberta, Canada
  05. Juni 2025
  CONCLUSIONS: The study highlights factors influencing PROMs adoption in Alberta, including the need for a unified understanding, workflow integration, and electronic data use. Key strategies involve fostering patient-centered care, ensuring organizational support, addressing resource and policy issues, and providing targeted education. Engaging early adopters and offering incentives can improve PROMs integration and patient outcomes.
• Neurocognitive impairment and patient-proxy agreement on health-related quality of life evaluations in recurrent high-grade glioma patients
  05. Juni 2025
  CONCLUSIONS: The results of this study suggest that the moderate level of patient-proxy agreement observed in HGG patients would allow reliance on proxies' reports. However, the differences observed between neurocognitively impaired and intact patients stress the importance of taking into consideration patient's clinical and neurocognitive status as well as their mental capacity for adequate clinical decision making in general and for PRO-related issues.
• The Role of Metabolic Testing in the Diagnostic Evaluation of Adult NORSE: A Retrospective, Single-Centre Study
  05. Juni 2025
  CONCLUSION: The study highlights the challenges in diagnosing NORSE aetiology and the limited utility of extensive testing for inherited metabolic disorders in this patient population. Further research is required to refine diagnostic strategies and enhance our understanding of the heterogeneous aetiology of cNORSE.
• Worldwide research trends of post-subarachnoid hemorrhage epilepsy from 1995 to 2024: a bibliometric analysis
  05. Juni 2025
  CONCLUSION: Over the past three decades, there has been a significant upward trend in the annual NP on post-SAH epilepsy. The United States has maintained a leading position in this field. Current research primarily focuses on the pathogenesis, with particular attention to 'inflammation' and 'DCI'.
• Trends in prescription of new antiseizure medications in a single center in Latin America: evidence of clinical practice
  05. Juni 2025
  CONCLUSION: These findings demonstrate a preference for second- and third-generation ASMs in tertiary hospitals in Latin America, which is concordant with global trends. First-generation ASMs are still prescribed but at lower rates. These results provide insights into changing prescription practices and access to newer medications, informing future research and hospital policies.
• A Rare Case of Refractory Epilepsy Associated With Brain Calcifications and Mucocutaneous Candidiasis
  05. Juni 2025
  Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare and complex primary immunodeficiency disorder. The classic clinical triad of APS-1 includes chronic mucocutaneous candidiasis, hypoparathyroidism, and adrenal insufficiency. Clinically, APS-1 presents with significant variability and is characterized by autoimmune dysfunction affecting both endocrine organs (including the parathyroids, adrenal glands, thyroid, gonads, and pituitary) as well as non-endocrine tissues (such as the skin,...
• Does Grey Matter? The Structural and Cognitive Footprint of Late-Onset Epilepsy
  05. Juni 2025
  No abstract
• Late onset epilepsy and dementia with Lewy bodies: Underestimated association?
  05. Juni 2025
  Relationship between Alzheimer's disease (AD) and late onset epilepsy (LOE) has been widely described leading to an expansion of the clinical spectrum of AD. Dementia with Lewy bodies (DLB) has scarce data detailing its association with epilepsy. We report 4 patients presenting DLB and LOE. Most of them developed LOE before the first symptoms of DLB, they all presented Parkinsonism and cognitive fluctuations, half of them presented status epilepticus and none had co-amyloid pathology, sv2a...
• Academic competence and special educational needs as outcomes of early onset epilepsy: A population-based prospective follow-up study
  05. Juni 2025
  Epilepsy in children is associated with significant academic challenges, particularly among those with early-onset seizures and comorbid intellectual disabilities (ID). This study aims to bridge gaps in existing research by examining long-term academic outcomes and special educational needs (SEN) in a cohort of children with early-onset epilepsy, including those with complicated epilepsy (CE) and major comorbidities. The study followed a population-based cohort of 64 children with epilepsy (CWE)...
• Scaling up childhood epilepsy management: lessons from India's school health program
  05. Juni 2025
  No abstract
• Novel untethered micro-robotic platform developed for minimally invasive ultra-selective microsurgical procedures and targeted drug delivery: Preliminary characterization of tissue response to intraparenchymal navigation in ovine brain
  05. Juni 2025
  CONCLUSION: These findings support the equivalence of tissue responses to this micro-robot navigation compared to catheter insertion as a preliminary surrogate for addressing the safety and accuracy of this novel platform. This platform may set a new standard for safe, anatomically precise, and minimally invasive therapeutic procedures. The described approach offers untethered navigation, capable of traversing CNS tissues in controlled, complex, curvilinear trajectories. Preliminary results...
• Mapping human brain topography to heart rhythms: an SEEG study
  05. Juni 2025
  CONCLUSIONS: We generated a spatiotemporal dynamic map of HEPs across cortical and subcortical regions. Our characterization of HEPs revealed various dominant components and established a direct association between its topographic organization and distribution of neurotransmitter receptors. This study provides a foundational framework for understanding the brain processing of heart signals and paves the way for novel therapeutic interventions and cardiovascular diseases.
• HCN2-Associated Neurodevelopmental Disorders: Data from Patients and Xenopus Cell Models
  05. Juni 2025
  OBJECTIVE: We aimed to characterize the phenotypic spectrum and functional consequences associated with variants in HCN2, encoding for the hyperpolarization-activated cyclic nucleotide (HCN) gated channel 2.
• Current and emerging pharmacotherapies in lennox-Gastaut syndrome
  05. Juni 2025
  INTRODUCTION: Lennox-Gastaut syndrome (LGS) is a severe childhood-onset developmental and epileptic encephalopathy characterized by multiple drug-resistant seizures, cognitive impairments, and distinctive EEG patterns. Given its profound impact on patients' quality of life, developing effective pharmacotherapies remains a critical clinical challenge.
• Real-world use of adjunctive perampanel for focal-onset seizures in Italy: A mirroring clinical practice study of perampanel in adults and adolescents (AMPA)
  05. Juni 2025
  OBJECTIVE: The AMPA study (Study 501; NCT04257604) was a multicenter, prospective, 12-month observational study in Italy that evaluated the effectiveness and safety of adjunctive perampanel in patients with focal-onset seizures (FOS), with or without focal to bilateral tonic-clonic seizures (FBTCS).
• Fragile X syndrome: genetic and clinical profile in the Hong Kong Chinese population
  05. Juni 2025
  CONCLUSION: Fragile X syndrome is more than a pure neurodevelopmental disorder. Our findings highlight the importance of early diagnosis and subsequent management, with awareness of relevant surveillance and management guidelines.
• Constitutional copy number amplifications: rare or under-evaluated? Revisiting a 25-year-old cold case
  04. Juni 2025
  We reanalyzed through a cytogenomics approach a case published 20 years ago, describing a girl with developmental delay and epilepsy. Karyotype and FISH analysis showed a de novo 2.3 Mb terminal inverted-duplication at 8q24.3. The interpretation was inconsistent with the absence of a more distal deletion as expected for distal inverted duplications, and it was inconceivable to highlight rearrangements smaller than 5-10 Mb at that time. Chromosomal microarray (CMA), optical genome mapping (OGM),...
• Early hemodynamic differences between generalized and focal epilepsy measured by photoplethysmography
  04. Juni 2025
  Photoplethysmography (PPG) detects hemodynamic changes during epileptic seizures. This study aim to investigate PPG signals changes during generalized tonic‒clonic seizures (GTCSs) and focal impaired awareness seizures (FIASs). 17 GTCS and 19 FIAS episodes were recorded from 18 patients. The 30 min preictal period was divided into three 10-minute intervals. PPG features analyzed were pulse upslope (PUS), maximal compliance (Kmax), and skewness. Features across 3 preictal intervals showed...
• Corrigendum to "Predictive value of the polygenic risk score for developing epilepsy: a systematic review and meta-analysis" [Epilepsy Behav. 169 (2025) 110438]
  04. Juni 2025
  No abstract
• Asymmetric Hippocampal Metabolism Evaluated by Single-Voxel Spectroscopy at 7 T
  04. Juni 2025
  The hippocampus is known to be a key site of pathology for dementia and epilepsy, consistent with its role in memory formation. With this brain region also known to be vulnerable to metabolic injury, spectroscopic studies of the hippocampus are of relevance. However, the hippocampus is a challenging region for measurement, given its irregular small size and the high susceptibility gradients (e.g., anterior vs. posterior, medial vs. lateral) in the human temporal lobe. We acquired single-voxel...
• DEPDC5 regulates the strength of excitatory synaptic transmission by interacting with ubiquitin-specific protease 46
  04. Juni 2025
  DEP-domain containing-5 (DEPDC5) is part of the GATOR1 complex that inhibits the mechanistic target of rapamycin complex-1 (mTORC1). Loss-of-function mutations in human DEPDC5 are the most common cause of lesional or non-lesional focal epilepsies associated with mTOR hyperactivation. Depdc5 silencing in mature neurons leads to excitation/inhibition imbalance and increased excitatory synapse strength. However, no link exists between mTORC1 hyperactivity and the increased activity of glutamatergic...
• Rapid 1 mm isotropic diffusion tensor imaging with denoising and improved parameter estimation for detecting focal hippocampal lesions in temporal lobe epilepsy
  04. Juni 2025
  While high resolution diffusion tensor imaging (DTI) at 1 mm isotropic can detect focal lesions of the hippocampus in temporal lobe epilepsy (TLE), faster acquisition times would facilitate potential clinical implementation. The purpose here is to assess different published denoising algorithms to overcome the low signal-to-noise ratio and accelerate 1 mm isotropic DTI of the human hippocampus at 3 T while maintaining diffusivity metric accuracy and image quality for focal lesion detection in...
• Neurological involvement in 51 cystinosis patients: A single-center experience
  04. Juni 2025
  BACKGROUND: Cystinosis is a lysosomal storage disease resulting from impaired transport of cystine due to variants in CTNS gene. Cystine accumulation leads to renal, corneal, and endocrine involvements. Patients typically present with growth retardation, polyuria/polydipsia, rickets. However, neurological manifestations are rare and become more pronounced with increasing age.
• Prevalence of migraine in individuals with functional seizures: A systematic review and meta-analysis
  04. Juni 2025
  CONCLUSION: This study revealed a high prevalence of migraine in patients with functional seizures. However, existing evidence is limited to a handful of observational studies. More studies are needed to evaluate the direction of the association and the clinical and therapeutic impact of migraine on functional seizures.
• Seizure outcomes after cortical stimulation-induced seizures: A systematic review and meta-analysis
  04. Juni 2025
  CONCLUSIONS: Stimulation-induced seizures were not statistically associated with surgical outcomes, but our meta-analysis was limited to a small number of studies and pooled results at both high and low frequency stimulation. Low frequency stimulation induced seizures were more consistently associated with favorable surgical outcomes in patients who had resection compared to high frequency stimulation induced seizures.
• Unique place of ambulatory EEG (aEEG) in management of epilepsy
  04. Juni 2025
  CONCLUSIONS: Patients with epilepsy underestimate seizure burden. Clinical decision-making just based on verbal report can be misleading. aEEG may help provide estimation of unrecognized seizures and help guide ASD wean decision.
• Enhanced amygdala inhibitory neurotransmission and its vulnerability to hyperthermic stress in Atp1a2-deficient heterozygous mice
  04. Juni 2025
  The sodium pump (Na,K-ATPase, NKA) is a membrane-bound enzyme crucial for maintaining Na^(+)/K^(+) electrochemical gradients across plasma membranes. NKA constitutes catalytic α and auxiliary β subunits, of which four α and three β isoforms have been identified. The physiological roles of the isoforms are not fully understood; nevertheless, mutations in the human α2 subunit gene ATP1A2 have been linked to various neurological disorders, including familial hemiplegic migraine type 2 (FHM2),...
• The Construction and Mechanism of SPCE/Cu₂O@MWCNTs Electrochemical Sensor for Menthone Detection for Epileptic Seizures Prediction
  04. Juni 2025
  Prediction of seizures is critical for the effective management and treatment of epileptic disorders. The epileptic patients generates certain biomarker before the occurance of seizure, which are considered as the potential biomarkers for prediction. However, research on the detection of these biomarkers remains limited, and the detection process is still challenging. Herein, an electrochemical sensor for detecting menthone, a biomarker associated with epilepstic seizure is reported. The...
• Prenatal and childhood infections and risk of epilepsy
  04. Juni 2025
  Infections in utero and early childhood are associated with an increased epilepsy risk; however, confounding by familial predisposition has not been adequately accounted for in previous studies. We aimed to assess the epilepsy risk attributable to infections in utero and early childhood by performing population-based and sibling-comparison analyses to account for residual and unmeasured familial confounding factors. This nationwide birth cohort study included 2,609,289 individuals born 2001-2016...
• Evaluation of limbic microstructural abnormalities in temporal lobe epilepsy: A neurite orientation distribution and density imaging study
  04. Juni 2025
  OBJECTIVE: Widespread structural pathology in the limbic system is a hallmark of temporal lobe epilepsy (TLE). In this work, we sought to describe a comprehensive readout of limbic abnormalities in TLE using neurite orientation distribution and density imaging (NODDI).
• Delphi consensus finding on paediatric-adult transition: results from the epilepsy transition working group of the italian league against epilepsy (LICE)
  04. Juni 2025
  CONCLUSIONS: This study emphasizes the necessity of an organized transition model involving various specialists and a tailored timeline. The consensus underscores the importance of caregiver involvement and unified educational curricula for all epileptologists to ensure effective care transition. The ETWG is building and improving a network of epilepsy centres to implement the organizational model derived from this study.
• Perampanel as Add-on in Patients Aged 12 Years with Focal Epilepsy: A Prospective Real-World Observational Study from Southern China
  04. Juni 2025
  CONCLUSION: PER demonstrated good effectiveness and safety as an add-on therapy for focal epilepsy in southern Chinese patients aged ≥ 12 years. Lower doses of PER (≤ 4 mg/day) may achieve satisfactory effectiveness in PER-sensitive populations, while shorter disease duration and unknown etiology were associated with better long-term outcomes. These findings support PER's utility in managing focal epilepsy, particularly in drug-resistant cases.
• Clinical, imaging, and recurrence analysis of myelin oligodendrocyte glycoprotein antibody-associated disease with initial presentation as meningoencephalitis in children: a single-center retrospective study
  04. Juni 2025
  CONCLUSIONS: Subcortical FLAIR hypointensity, also known as the "dark white matter" sign, is a particularly prominent imaging finding in children with MOG antibody-associated meningoencephalitis. In pediatric patients with epilepsy of unknown etiology, the concurrent presence of meningocortical abnormalities and the "dark white matter" sign on MRI is highly suggestive of this phenotype. A more extensive meningocortical lesion burden is associated with a higher risk of relapse.
• Neural dynamics remodeling induced by ketogenic diet therapy in drug-resistant epilepsy: A functional magnetic resonance imaging study
  04. Juni 2025
  OBJECTIVE: Ketogenic diet therapy (KDT) is a safe and effective intervention for drug-resistant epilepsy (DRE), yet its neural mechanisms remain unclear. This study aimed to explore how KDT-induced changes in brain network dynamics relate to its therapeutic efficacy.
• Comparison of Epileptiform Activity in Routine and Sleep-Deprived Electroencephalogram (EEG) Studies: A Five-Year Retrospective Analysis
  04. Juni 2025
  CONCLUSIONS: The study findings suggest that, in the correct clinical context, undertaking both a routine and sleep-deprived EEG, regardless of the order, may have benefit in identifying epileptiform activity. These findings also reinforce important data points that should be included with EEG referrals, to help optimise future research in this area.
• Landau-Kleffner Syndrome: Current Etiopathogenesis and Management
  04. Juni 2025
  Landau-Kleffner syndrome is a developmental epileptic encephalopathy that manifests mainly in pediatric patients, characterized by verbal auditory agnosia and focal, bilateral, and focal and diffuse epileptic activity, visualized through electroencephalographic recordings performed during sleep. It is a rare syndrome with a variable, multifactorial presentation and unknown etiology, although it has a genetic component in some cases. It is often associated with variants of the glutamate...
• Our Experience with Pediatric Patients Withdrawn from Pharmacological Treatment for Epilepsy who Remain Untreated
  04. Juni 2025
  INTRODUCTION: There are many variables to consider when withdrawing anti-epileptic seizure treatment and risk-benefit evaluation is required.
• The analysis of glutamate metabolism modulators in platelets of patients with temporal lobe epilepsy or status epilepticus
  04. Juni 2025
  OBJECTIVES: The accumulation of glutamate in the brain synaptosomes is called excitotoxicity which is an underlying mechanism of epilepsy. Platelets also contain a glutamate-glutamine cycle similar to the brain. Platelets release glutamate upon activation and also clear glutamate from the blood upon uptake. It was shown before that the platelet glutamate uptake is decreased in neurodegeneration. Therefore, we aimed to analyze the mRNA expression of Glutamate Transporter 1 (GLT-1), Glutamate...
• Bridging the gap: Canine in vitro models of the central nervous system as tools to study pathogenetic mechanisms in neurodegenerative disease and neuroinfectiology
  04. Juni 2025
  The increasing implementation of the 3R principles of reduce, replace, and refine, as well as costs and ethical considerations associated with animal experiments, will lead to an incremental reduction in in vivo experimentation. To fill the gap between in vitro generated data and findings obtained following in vivo animal experiments, there is an urgent need for reliable and robust in vitro models with high comparability to the respective in vivo situation. This applies in particular for models...
• An algorithm for seizure detection in rodents
  04. Juni 2025
  OBJECTIVE: Epilepsy animal research often relies on long-term intracranial electroencephalographic (iEEG) recordings. Here, we describe an artificial neural network (ANN) algorithm for automatic detection of seizures.
• Status epilepticus: Is there a stage 1 plus?
  04. Juni 2025
  No abstract
• Harvard Electroencephalography Database: A comprehensive clinical electroencephalographic resource from four Boston hospitals
  04. Juni 2025
  OBJECTIVE: This article presents the Harvard Electroencephalography Database (HEEDB), a large-scale, deidentified, and standardized electroencephalographic (EEG) resource supporting artificial intelligence-driven and reproducible research in epilepsy and broader clinical neuroscience.
• Alterations in White Matter Structure in Sleep-Related Epilepsies: A TBSS-Based Diffusion Tensor Imaging Study
  04. Juni 2025
  CONCLUSION: The FA and RD values derived from DTI serve as neuroimaging markers to evaluate WM damage in SRE. These findings indicate that alterations in WM microstructure within the bilateral frontal lobes and corpus callosum may contribute to a potential pathophysiological mechanism underlying seizures in SRE. Furthermore, myelin damage appears to be more severe in early-onset SRE patients, highlighting the necessity for clinical vigilance regarding WM microstructural changes in young SRE...
• Diagnosis of epileptic seizure neurological condition using EEG signal: a multi-model algorithm
  04. Juni 2025
  INTRODUCTION: Affecting millions of individuals worldwide, epilepsy is a neurological condition marked by repeated convulsions. Monitoring brain activity and identifying seizures depends much on electroencephalography (EEG). An essential step that may help clinicians identify and treat epileptic seizures is the differentiation between epileptic and non-epileptic signals by use of epileptic seizure detection categorization.
• Neurovascular coupling dysfunction in encephalopathy: pathophysiological advances and clinical implications
  04. Juni 2025
  Neurovascular coupling (NVC) is a sophisticated and vital physiological mechanism that ensures the brain's intricate balance and optimal performance. It refers to the precise coordination between the brain's neural activity and the local cerebral blood flow (CBF), which is essential for meeting the metabolic demands of active neurons. This coupling allows for the efficient delivery of oxygen and nutrients to brain regions experiencing increased activity and facilitates the removal of metabolic...
• Neurodegeneration, Intracranial Calcifications, Microcephaly and Drug-Resistant Epilepsy Caused by a Novel Homozygous Missense Variant in the NRROS Gene: A Case Report
  04. Juni 2025
  Negative regulator of reactive oxygen species (NRROS)-related microgliopathy (MIM# 618875) is a rare autosomal recessive neurodegenerative disorder. This case report describes a Saudi Arabian child with a novel homozygous NRROS variant, NM_198565.2: c.257T>C (p.Leu86Pro) presenting with drug-resistant epilepsy, rapid developmental regression, microcephaly, dystonia, and intracranial calcifications. Neuroimaging revealed bilateral intracranial calcifications, generalized brain volume loss, and...
• Clinical Characteristics and Seizure Outcomes in Antibody-Positive Autoimmune Limbic Encephalitis
  04. Juni 2025
  CONCLUSION: In patients with antibody-positive ALE, seizure outcomes appeared to change over an extended follow-up period, particularly in those with LGI1 and GABA(B)R antibodies. Younger age at disease onset, female sex, and specific antibody profiles may be indicators of AAE.
• Human Applications of Transcranial Temporal Interference Stimulation: A Systematic Review
  04. Juni 2025
  CONCLUSIONS: Phase 1 studies demonstrate that tTIS is safe, well-tolerated, and can engage deep brain targets in humans. Well-controlled Phase 2 trials are needed to assess its therapeutic potential in patient populations.
• Changes in slow oscillations and sleep spindles by auditory stimulation positively correlate with memory consolidation in children with epilepsy and controls
  04. Juni 2025
  CONCLUSION: Auditory stimulation reliably modulates sleep oscillations when delivered on background activity and during the upstate of SOs. As increased event rates improve memory consolidation, stimulation paradigms to increase SO and SO-spindle complex rates are required to enhance memory.
• Delayed forebrain excitatory and inhibitory neurogenesis in STRADA-related megalencephaly via mTOR hyperactivity
  04. Juni 2025
  Biallelic pathogenic variants in STRADA , an upstream regulator of the mechanistic target of rapamycin (mTOR) pathway, result in megalencephaly, drug-resistant epilepsy, and severe intellectual disability. This study explores how mTOR pathway hyperactivity alters cell fate specification in dorsal and ventral forebrain development using STRADA knock-out human stem cell derived brain organoids. In both dorsal and ventral forebrain STRADA knock-out organoids, neurogenesis is delayed, with a...
• Eigenvector biomarker for prediction of epileptogenic zones and surgical success from interictal data
  04. Juni 2025
  INTRODUCTION: More than 50 million people worldwide suffer from epilepsy. Approximately 30% of epileptic patients suffer from medically refractory epilepsy (MRE), which means that over 15 million people must seek extensive treatment. One such treatment involves surgical removal of the epileptogenic zone (EZ) of the brain. However, because there is no clinically validated biomarker of the EZ, surgical success rates vary between 30%-70%. The current standard for EZ localization often requires...
• Ion concentrations in CSF and serum are differentially and precisely regulated
  04. Juni 2025
  Fluctuations of extracellular brain ion concentrations have been associated with transitions between brain states such as sleep and wakefulness, and disturbances have been implicated in a variety of neurological conditions, including dementia, epilepsy and migraine. This study aims to define the normal CSF ion profile and identify key factors influencing its regulation. In this cross-sectional study, we analysed samples from 42 individuals (16 men), including 28 healthy participants and 14...
• Mesenchymal Stromal Cell Treatment Alleviates Autism Spectrum Disorder Symptoms: A Case Report
  04. Juni 2025
  Autism spectrum disorder (ASD) is associated with significant lifelong challenges for severely affected children and their families. The condition remains poorly understood, and no reliable, effective treatments are available. Presented is a case of a boy with severe ASD, epilepsy, and a pathological electroencephalogram (EEG) who underwent five treatments between the ages of 5.75 years and nine years with mesenchymal stem cells from allogeneic placenta and umbilical cord tissue of unrelated...
• A Novel Epilepsy Phenotype in a Young Girl With a Pathogenic SETD5 Gene Variant
  04. Juni 2025
  Recent studies suggest a possible association between variants in SETD5 and epilepsy, particularly in individuals with intellectual disability and developmental delay. However, the current understanding of SETD5 function in epilepsy is limited. We describe a 6-year-old girl harboring a pathogenic SETD5 gene variant, disclosed in early infancy by whole exome sequencing that was performed for global developmental delay. Her neurologic phenotype evolved during follow-up to include focal and...
• Current Approach to Perioperative Evaluation of Neurological Diseases
  04. Juni 2025
  CONCLUSION: Perioperative management of patients with neurological diseases requires a comprehensive, multidisciplinary approach tailored to the specific needs of each condition. Adherence to evidence-based guidelines not only ensures patient safety but also enhances recovery, reducing morbidity and mortality in this vulnerable patient population.
• Clinical characteristics of epilepsy with intellectual disability associated with SETD1B gene in three pediatric cases and a literature review
  04. Juni 2025
  CONCLUSIONS: The primary phenotypes associated with SETD1B gene variants are intellectual disability and seizures, and seizures exhibit distinct characteristics. Eyelid myoclonia is not uncommon.
• SCN2A gene mutations with epilepsy: single center experience
  03. Juni 2025
  CONCLUSION: Cases of refractory epilepsy in infancy and young children with autism and abnormal paraventricular white matter on magnetic resonance imaging should be vigilant of SCN2A gene mutations. The degree of epilepsy control cannot be predicted based on the type of gene mutation, and treatment with LEV, VPA, and PB can achieve therapeutic effects in controlling epilepsy.
• Functional improvement by tendon transfer for residual wrist dysfunction after botulinum therapy for severe upper limb spasticity: a case report
  03. Juni 2025
  CONCLUSIONS: This case report demonstrates the successful application of a stepwise treatment approach, combining repetitive botulinum toxin A therapy, occupational therapy, and tendon transfer surgery, for severe upper limb spasticity with residual wrist joint impairments. These findings highlight the importance of tailoring treatment strategies to individual patient characteristics, particularly the presence of residual voluntary muscle activity and the absence of structural joint deformities....
• Glucose restriction induces degeneration of neurons with mitochondrial DNA depletion by altering ER-mitochondria calcium transfer
  03. Juni 2025
  Mitochondrial DNA (mtDNA) mutations and/or depletion are implicated in epilepsy and many neurodegenerative diseases. However, systematic investigation into how mtDNA alterations relate to epilepsy and neural degeneration is needed. Here, we established a mouse model in which mtDNA depletion is induced by the Herpes Simplex Virus Type 1 (HSV-1) protein UL12.5 in the brain led to an epileptic phenotype characterized by abnormal electroencephalography (EEG) patterns and increased neural...
• A novel 8-octapeptide repeat insertion in PRNP causing Huntington disease-like 1 in a Chinese family: a case report and literature review
  03. Juni 2025
  CONCLUSION: These cases highlight the importance of considering familial prion diseases in patients with hereditary chorea and a negative HD gene test. Careful attention to treatment and follow-up can provide valuable insights for managing these patients.
• Cannabidiol and microRNAs: shared cellular targets and new insights for developing anti-seizure modalities
  03. Juni 2025
  Cannabidiol (CBD) and 9-tetrahydrocannabinol (THC) are the two main components of cannabis that provide its therapeutic benefits. CBD has been extensively studied for its role in reducing seizures, among its many other uses. While the exact mechanisms by which CBD works to relieve seizures have not yet been fully determined, it is evident that CBD effectively diminishes seizure activity and is now being used as an approved treatment for severe forms of non-responsive epilepsy. As essential...
• Focused digital cohort selection from social media using the metric backbone of biomedical knowledge graphs
  03. Juni 2025
  Social media data allows researchers to construct large digital cohorts-groups of users who post health-related content--to study the interplay between human behavior and medical treatment. Identifying the users most relevant to a specific health problem is, however, a challenge in that social media sites vary in the generality of their discourse. While X (formerly Twitter), Instagram, and Facebook cater to wide ranging topics, Reddit subgroups and dedicated patient advocacy forums trade in much...
• Features of developmental coordination disorder and sleep difficulties in young adolescents with epilepsy: A case-controlled study
  03. Juni 2025
  OBJECTIVE: The primary aim was to compare the prevalence of difficulties with motor coordination and sleep in young adolescents with epilepsy (11-16 years) (n = 60) and a healthy control group (n = 49). The secondary aim was to explore factors associated with sleep and motor coordination in the epilepsy group.
• Functional evaluation of a rat model of KCNT1-related epilepsy
  03. Juni 2025
  CONCLUSION: Our findings elucidate the epileptogenicity of the Kcnt1-269 variant in rats and may provide new insights into the pathways associated with Kcnt1 variant-related epilepsy through transcriptome analysis.
• High-risk Obstructive sleep apnea (OSA), insomnia, and comorbid OSA (COMISA) increase likelihood of poor functional status in neurological and psychiatric populations
  03. Juni 2025
  CONCLUSIONS: This study reveals a substantial prevalence of HR-OSA, HR-insomnia, and HR-COMISA among patients with neurological and psychiatric disorders and an association between sleep disorder and disease-based severity. This work highlights the potential value of sleep disorder screening and targeted management strategies in these populations.
• Classification of epilepsy seizure types in pediatrics based on Turkish EEG reports
  03. Juni 2025
  This study focuses on the binary classification of pediatric epilepsy seizure types as focal or generalized using Turkish electroencephalography (EEG) reports, leveraging natural language processing (NLP) and machine learning methodologies. A novel dataset comprising 130 Turkish EEG reports was developed and publicly released, addressing the scarcity of resources in this domain. The study employed various text representation models, including TF-IDF, FastText, ElectraTR, XLM, and BERTurk, along...
• Genetic relationship between epilepsy and mental disorders: A comprehensive GWAS analysis
  03. Juni 2025
  OBJECTIVE: Epilepsy (Epi) frequently co-occurs with various mental disorders; however, the genetic correlation and potential shared genetic mechanisms between them remain unclear. This study aims to systematically analyze the genetic correlation between Epi and various mental disorders by integrating genome-wide association study (GWAS) data, and to explore potential shared genetic mechanisms.
• National Multicenter Cohort Study: Adjunctive Cannabidiol-Enriched Cannabis Oil for Pediatric Drug-Resistant Epilepsy Treatment in Thailand
  03. Juni 2025
  CONCLUSIONS: The Thai medical-grade CBD-enriched oil is effective and tolerable for at least 12 months of adjunctive treatment in pediatric drug-resistant epilepsy in Thailand.
• Hydrogel-Based Multifunctional Deep Brain Probe for Neural Sensing, Manipulation, and Therapy
  03. Juni 2025
  Implantable deep brain probes (DBPs) constitute a vital component of brain-machine interfaces, facilitating direct interaction between neural tissues and the external environment. Most multifunctional DBPs used for neural system sensing and modulation are currently fabricated through thermal tapering of polymeric materials. However, this approach faces a fundamental challenge in selecting materials that simultaneously accommodate the thermal stretching process and yet match the modulus of brain...
• Alterations in Cortical Microstructure, Morphology, and Intrinsic Local Function in Spiking Tissue in Patients With Focal Epilepsy
  03. Juni 2025
  BACKGROUND AND OBJECTIVES: Epilepsy is increasingly conceptualized as a network disorder, and advancing methods for its diagnosis and treatment requires characterizing both the epileptic generator and related networks. Previous research has highlighted alterations in cortical structure and hemodynamics in epilepsy, but it remains unknown whether these alterations concentrate in areas generating epileptic activity. The aim of this study was to interrogate alterations in microstructure,...
• Health-related quality of life and its predictors among epilepsy patients in Ethiopia: Systematic review and meta-analysis
  03. Juni 2025
  CONCLUSION: The least overall pooled mean score of HRQOL was the QOLIE-10 measuring tool epileptic patients' mean score compared to other health-related quality-of-life measuring tools such as WHOQOL-BREF, and QOLIE-31. Moreover, the least overall pooled mean score of HRQOL using the WHOQOL-BREF was the environmental domain followed by the emotional domain, as compared to all other domains in each measuring tool of health-related quality of life.
• Transcranial direct current stimulation neuromodulates intracranial cognitive evoked activity in humans
  03. Juni 2025
  Transcranial direct current stimulation (tDCS) is an easy to use, noninvasive brain stimulation technique that gained prominence for its potential in cognitive rehabilitation. Electroencephalography (EEG), which records electrical brain activity with a high temporal resolution, is well suited to quantify tDCS-induced neuromodulation in humans. However, most studies relying on scalp EEG recordings or event-related potentials showed low reliability and only indirect correlations. Here, we combined...
• Resting-State Network Transitions in Temporal Lobe Epilepsy: Insights from MEG Based Dynamic Functional Connectivity
  03. Juni 2025
  Temporal Lobe Epilepsy (TLE), a common form of focal epilepsy, is associated with recurrent seizures originating in the temporal lobe, often leading to cognitive and psychological impairments. This study explores dynamic functional connectivity (dFC) patterns in TLE patients compared to Healthy Controls (HC) using resting-state Magnetoencephalography (MEG) data. dFC, which captures the temporal variability of brain networks, was analyzed across eight frequency bands (delta, theta, alpha, beta,...
• Neurology of Androgens and Androgenic Supplements
  03. Juni 2025
  PURPOSE OF REVIEW: This article explores the intricate relationship between androgens, androgen receptors, and the central nervous system. We examine the role of physiologically derived androgens and androgenic supplements in neurodevelopment and neuroplasticity and delve into the involvement of androgen pathways in the pathogenesis of various neurological disorders.
• Early alterations of thalami- and hippocampi-cortical functional connectivity as biomarkers of seizures after traumatic brain injury
  03. Juni 2025
  The Epilepsy Bioinformatics Study for Antiepileptogenic Therapy (EpiBioS4Rx, project 3) is a prospective multicenter clinical observational study to identify early biomarkers of epileptogenesis after moderate-to-severe traumatic brain injury (TBI). We used a seed-based approach applied to acute (i.e., ≤14 days) fMRI imaging data, directly testing the hypothesis that the presence of seizures up to two years following brain trauma is associated with functional changes within hippocampi and...
• 19 patients report seizure freedom with medical cannabis oil treatment for drug-resistant epilepsy: a case series
  03. Juni 2025
  CONCLUSION: The results of the study support prioritizing CBPMs in cases of DRE. It also supports research into identifying clinical and biological biomarkers for DRE cases that may achieve SF under CBPM treatment. Lastly, the study supports improving the accessibility of CBPMs, using SF as a primary outcome in future CBPM epilepsy trials, and assessing the role of THC in reducing seizures.
• Temporal trends and future projections of cysticercosis-induced epilepsy: insights from the global burden of disease study 2021- a cross-sectional study
  03. Juni 2025
  CONCLUSION: This study elucidates the complex epidemiological landscape of CIE, noting a global increase in prevalence and YLDs number against a decline in rates. Over the next 15 years, the burden of CIE is expected to remain significant, with high SDI regions warranting particular focus. The findings emphasize the necessity for region-specific strategies to mitigate the projected growth of CIE, highlighting the importance of tailored interventions.
• Alzheimer's disease-associated genotypes differentially influence chronic evoked seizure outcomes and antiseizure medicine efficacy in aged mice
  03. Juni 2025
  BackgroundAlzheimer's disease (AD) patients are at greater risk of focal seizures than similarly aged adults, which may accelerate cognitive decline. Older people with epilepsy generally respond well to antiseizure medications (ASMs). However, whether specific ASMs can differentially control seizures in AD is unknown. The corneal kindled model of chronic seizures allows for precisely timed drug administration studies to expediently evaluate efficacy and tolerability of investigational treatments...
• Features of brain involvement in patients with type 1 neurofibromatosis in the Republic of Bashkortostan
  03. Juni 2025
  CONCLUSION: The results indicate the need for accessible brain MRI and consultations with neurologists, psychologists, and psychotherapists for all NF1 patients in the republic to detect brain lesions and psychological disorders in a timely manner. The detection of brain cysts in 5% of patients may be specific to the NF1 region.
• Sleep disturbance as a marker of postpartum psychosis risk: a prospective actigraphy study
  02. Juni 2025
  BACKGROUND: Postpartum Psychosis (PP) is a severe perinatal psychiatric disorder affecting 1-2 in 1000 individuals following childbirth. Most episodes emerge within the first two weeks postpartum and commonly present with mania and decreased need for sleep. The postnatal period is a time of profound sleep disruption and sleep deprivation is a known trigger for mania and psychosis. Despite growing recognition of the role of sleep in the onset and progression of PP, this relationship remains...
• Pharmacological inhibition of PSPH reduces serine levels and epileptic seizures
  02. Juni 2025
  Temporal lobe epilepsy (TLE) is the most common type of drug-resistant epilepsy. Lowering the levels of N-methyl-D-aspartate receptor (NMDAR) ligands has been suggested as a promising therapeutic strategy for TLE. D-Serine gates synaptic NMDARs in the hippocampus but the effect of D-serine on seizure activity remains poorly understood. Here, we show that serine levels in the hippocampus were increased in persons with TLE and in a mouse model of TLE. Eliminating D-serine or blocking its binding...
• FDA-approved phensuximide inhibits RIPK1-dependent immunogenic cell death
  02. Juni 2025
  Receptor-interacting serine/threonine kinase 1 (RIPK1) is a pivotal protein controlling cell death and inflammation. RIPK1 is an attractive therapeutic target, given that the inhibition of RIPK1 kinase activity has been shown to be effective in animal models of human diseases such as autoimmune and neurodegenerative diseases. Here, we screened a collection of drugs with structural similarity to necrostatin-1 (Nec-1), an inhibitor of RIPK1, to assess their abilities to regulate RIPK1-mediated...
• Challenging the preclinical paradigm: Adverse effects of antiseizure medicines in male rats with drug-resistant epilepsy
  02. Juni 2025
  CONCLUSION AND IMPLICATIONS: This study highlights the need for preclinical models that better reflect human epilepsy, considering both efficacy and side effects in drug development. Our findings emphasize the complexity of drug responses and underscore the importance of improved models for drug development.
• Multi-modal connectivity of the brain underlying visual hallucinations evoked by high-frequency intracranial stimulations
  02. Juni 2025
  CONCLUSIONS: We evidenced the networks underlying visual hallucinations with different clinical characteristics. These networks are particularly important for planning stereo-EEG explorations in patients with drug-resistant epilepsy and for functional prognosis in posterior acquired lesions and after surgical resections.
• Ensemble Machine Learning Model for Real-Time Valproic Acid Prediction in Epilepsy Treatment
  02. Juni 2025
  To develop an optimal model to predict valproic acid (VPA) concentrations by machine learning, ensuring that the VPA plasma concentration is in the effective treatment range, and thus effectively control the patient's epilepsy.This single-center, retrospective study included patients diagnosed with epilepsy from January 2014 to January 2022. Patients receiving VPA and having undergone therapeutic drug monitoring were enrolled. Top three algorithms exhibiting superior model performance were...
• EEG-Based Seizure Onset Detection of Frontal and Temporal Lobe Epilepsies Using 1DCNN
  02. Juni 2025
  CONCLUSION: Our work can effectively detect seizures of FLE and TLE, and this may provide valuable reference for future research on seizure detection in FLE and TLE.
• Seizure-related death exhibits a circadian rhythm independent of seizure timing or sleep in a mouse model of Dravet syndrome
  02. Juni 2025
  Sudden unexpected death in epilepsy (SUDEP) is the most extreme consequence of epilepsy. SUDEP typically occurs at night. Because humans sleep at night, these nighttime deaths are often attributed to seizures arising from sleep. Nocturnal mice also experience more seizure-associated deaths during the nighttime. This could represent timing that is under circadian control. To examine this, male and female Scn1a^(R1407X/+) mice, a model of the epileptic encephalopathy Dravet syndrome, in which...
• Biallelic LGI1 and ADAM23 variants cause hippocampal epileptic encephalopathy via the LGI1-ADAM22/23 pathway
  02. Juni 2025
  Monoallelic pathogenic variants in LGI1 cause autosomal dominant epilepsy with auditory features with onset in childhood/adolescence. LGI1 is a secreted neuronal protein, functions as a ligand for ADAM22/23, and regulates excitatory synaptic transmission and neuronal excitability in the brain. While biallelic ADAM22 variants cause developmental and epileptic encephalopathy (DEE), the whole picture of LGI1-ADAM22/23 pathway-related diseases remains incompletely understood. Through international...
• Time-Dependent Risk of Dementia Following Epilepsy Diagnosis: A Nationwide Cohort Study in South Korea
  02. Juni 2025
  CONCLUSION: The risk of dementia in patients with epilepsy varies with time since diagnosis, age, and sex. Early cognitive assessment and targeted interventions, particularly in younger male patients, are crucial to reduce the long-term burden of dementia. These results provide critical insight for clinicians and public health strategists to enhance the care of patients with epilepsy.
• Prevalence of Epilepsy in Frontotemporal Dementia and Timing of Dementia Diagnosis
  02. Juni 2025
  CONCLUSIONS AND RELEVANCE: This case-control study found a higher prevalence of epilepsy and increased ASM use among patients with FTD compared with HCs and patients with AD , suggesting an association between epileptic abnormalities and the pathophysiology of FTD. Further studies are warranted to investigate a potential overlap in the pathophysiologic mechanisms of epilepsy and FTD.
• Novel TRPM3 missense mutation leading to severe hypocalcemia presenting as seizures and complicated by non-sustained ventricular tachycardia: A case report
  02. Juni 2025
  CONCLUSION: The patient was initially misdiagnosed with epilepsy for the past two years. Following a comprehensive evaluation, she was successfully treated with intravenous calcium and magnesium. On follow-up after six months, her condition showed marked improvement, characterized by better cardiac function and the absence of further seizure episodes. This case represents the first reported instance of a TRPM3 mutation affecting calcium channels, highlighting the need for further investigation...
• Breaking Barriers in Rare Disease Research: The RARE-X Open Science Data Challenge as a Model for Collaborative Innovation and Community Partnership
  01. Juni 2025
  This paper describes a rare disease Open Science Data Challenge, using data collected systematically on RARE-X across 27 neurodevelopmental disorders. Clinical diagnoses, symptoms, genetic data, and PROs were included. Researchers and statisticians generated solutions that identified previously underappreciated symptoms and used ML to test predictive models for diagnosis.