Epilepsy

22. Dezember 2024

• A bimodal closed-loop neuromodulation implant integrated with ultraflexible probes to treat epilepsy
  22. Dezember 2024
  Anti-seizure medications and deep brain stimulation are widely used therapies to treat seizures; however, both face limitations such as resistance and the unpredictable nature of seizures. Recent advancements, including responsive neural stimulation and on-demand drug release, have been developed to address these challenges. However, a gap remains, as electrical stimulation provides only transient effects while medication has a delayed onset. To bridge this gap, we developed a Bimodal...
• Sudden unexpected infant death, sudden unexplained death in childhood, and sudden unexpected death in epilepsy
  22. Dezember 2024
  Sudden deaths in infants and children represent a profound and tragic event that continues to challenge researchers despite extensive investigation over several decades. The predominant phenotype, sudden infant death syndrome (SIDS), has evolved into the broader category of sudden unexpected infant death (SUID). In older children, a less understood phenomenon known as sudden unexplained death in childhood (SUDC) has garnered attention. Additionally, sudden unexpected death in epilepsy (SUDEP)...
• CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus
  21. Dezember 2024
  The Chromodomain Helicase DNA-binding (CHD) protein family is ATP-dependent chromatin remodeling proteins that utilize energy produced by ATP hydrolysis to regulate chromatin structure and thereby modulate gene expression. The earliest report of a CHD3 gene mutation was by O'Roak, who found it during whole exome sequencing of 189 autism families in 2012. In 2018, Snijders Blok systematically assessed the autosomal dominant neurodevelopmental disorder caused by CHD3 gene damage, known as Snijders...
• Molecular and Clinical Insights into KMT2E-Related O'Donnell-Luria-Rodan Syndrome in a Novel Patient Cohort
  21. Dezember 2024
  O'Donnell-Luria-Rodan (ODLURO) syndrome is an autosomal dominant neurodevelopmental disorder mainly characterized by global development delay/intellectual disability, white matter abnormalities, and behavioral manifestations. It is caused by pathogenic variants in the KMT2E gene. Here we report seven new patients with loss-of-function KMT2E variants, six harboring frameshift/nonsense changes, and one with a 7q22.3 microdeletion encompassing the entire gene-locus. We further characterize both the...
• Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders
  21. Dezember 2024
  EP400 encodes a core catalytic ATPase subunit of ATP-dependent chromatin remodeling complexes. The gene-disease association of EP400 is undetermined. In this study, we performed trio-based whole-exome sequencing in a cohort of 402 families with epilepsy and neurodevelopmental disorders (NDDs) and identified compound heterozygous EP400 variants in six unrelated individuals. Six additional EP400 individuals were recruited via the match platform of China, including two de novo heterozygous and four...
• Corrigendum to "Predictive performances of STESS and EMSE in a Norwegian adult status epilepticus cohort" [Seizure 70 (2019) 6-11]
  21. Dezember 2024
  No abstract
• Effects of immune modulatory treatment on language and psychiatric profile in patients with electrical status epilepticus in sleep (ESES)
  21. Dezember 2024
  Electrical status epilepticus in sleep (ESES) is an electrographic pattern associated with cognitive impairment. Our study aimed to prospectively evaluate the psychiatric findings and language skills in patients diagnosed with ESES and to determine the immune modulatory treatment-responsive subgroups. We assessed the patients for psychiatric features and language skills at the baseline and 12 months after. Psychiatric disorders were screened according to DSM-V criteria. We implemented...
• The relationship between intrinsic spirituality, resilience and hopelessness in patients with epilepsy: A PATH analysis
  21. Dezember 2024
  CONCLUSION: According to the results of the study, it was found that intrinsic spirituality affected resilience positively and hopelessness negatively. Resilience was found to have a negative effect on hopelessness. It was determined that resilience partially mediated the relationship between intrinsic spirituality and hopelessness and this situation reduced hopelessness more.
• The impact of an epilepsy peer education program on knowledge, attitudes, and first aid approaches: A quasi-experimental design
  21. Dezember 2024
  OBJECTIVE: This study aimed to evaluate the effect of a peer education program on students' epilepsy knowledge, attitudes, and seizure first aid approaches.
• DCSENets: Interpretable deep learning for patient-independent seizure classification using enhanced EEG-based spectrogram visualization
  21. Dezember 2024
  Neurologists often face challenges in identifying epileptic activities within multichannel EEG recordings, requiring extensive hours of analysis. Computer-aided diagnosis systems have been proposed to reduce manual inspection of EEG signals by neurologists. However, direct analysis of EEG signals is difficult due to their complex and dynamic nature, with variation across multiple patients. Therefore, researchers have proposed the short-time Fourier transform (STFT) to capture dynamic events...
• Neonatal Seizures and Associated Neurobehavioral Profiles in Preschool Age Children
  21. Dezember 2024
  CONCLUSIONS: There was higher incidence of adverse neurobehavioral outcomes among preschool children diagnosed with postneonatal epilepsy compared with those without epilepsy. CP severity was associated with greater impairment; results also suggest that epilepsy is an independent predictor of adaptive functioning. Children with postneonatal epilepsy should be screened for neurobehavioral problems to facilitate early identification and developmental support.
• Effectiveness and tolerability of cenobamate: A single center experience
  21. Dezember 2024
  INTRODUCTION: Medication-resistant epilepsy (MRE) is characterized by the failure of adequate trials of two antiseizure medications (ASMs). Numerous studies have shown that once two ASMs fail to control seizures, the likelihood of subsequent ASM regimens providing seizure control diminishes significantly. Recent clinical data on cenobamate (CNB) suggest it may offer higher rates of seizure freedom in MRE patients. This study aims to report real-world, single-center findings on the effectiveness...
• Progressive brain atrophy and cortical reorganization related to surgery in temporal lobe epilepsy
  21. Dezember 2024
  OBJECTIVE: Epilepsy is associated with progressive cortical atrophy exceeding normal aging. We aimed to explore longitudinal cortical alterations in patients with temporal lobe epilepsy (TLE) and distinct surgery outcomes.
• Inhibition of the Integrated Stress Response Prevents Natural Forgetting and Corrects Accelerated Forgetting Associated with Epilepsy
  21. Dezember 2024
  The neural mechanisms underlying the natural and maladaptive forgetting of established memory remain largely unknown. Brain disease states might hijack the physiological forgetting mechanisms, resulting in maladaptive forgetting such as accelerated forgetting that contributes to cognitive decline in various neurologic conditions including epilepsy. Based on the key role of the integrated stress response (ISR) in memory storage and maintenance, we determined whether the ISR underpins natural and...
• Modelling the effect of allopregnanolone on the resolution of spike-wave discharges
  21. Dezember 2024
  Childhood absence epilepsy (CAE) is a paediatric generalized epilepsy disorder with a confounding feature of resolving in adolescence in a majority of cases. In this study, we modelled how the small-scale (synapse-level) effect of progesterone metabolite allopregnanolone induces a large-scale (network-level) effect on a thalamocortical circuit associated with this disorder. In particular, our goal was to understand the role of sex steroid hormones in the spontaneous remission of CAE. The...
• Prognostic factors and impact of management strategies for status epilepticus: The STEPPER study in the Emilia-Romagna region, Italy
  21. Dezember 2024
  OBJECTIVE: The STEPPER (Status Epilepticus in Emilia-Romagna) study aimed to investigate the clinical characteristics, prognostic factors, and treatment approaches of status epilepticus (SE) in adults of the Emilia-Romagna region (ERR), Northern Italy.
• Fabrication of Oro-Dispersible Sodium Valproate-Loaded Nanofibrous Patches for Immediate Epileptic Innervation
  21. Dezember 2024
  Epilepsy is one of the oldest neurological disorders discovered by mankind. This condition is firmly coupled with unprovoked seizures stimulated by irrepressible neuroelectrical blasts. Orally taken valproate family has been employed for prophylactic management; however, oral administration is not applicable for critical scenarios, thus calling for medication routes fulfilling necessities of immediate innervation. In order to address this shortcoming, sodium valproate entrapped in poly(ethylene...
• Rare dysfunctional SCN2A variants are associated with malformation of cortical development
  21. Dezember 2024
  OBJECTIVE: SCN2A encodes the voltage-gated sodium (Na+) channel α subunit Na(V)1.2, which is important for the generation and forward and back propagation of action potentials in neurons. Genetic variants in SCN2A are associated with a spectrum of neurodevelopmental disorders. However, the mechanisms whereby variation in SCN2A leads to disease remains incompletely understood, and the full spectrum of SCN2A-related disorders may not be fully delineated.
• Factors associated with placebo response rate in randomized controlled trials of antiseizure medications for focal epilepsy
  21. Dezember 2024
  OBJECTIVE: Randomized controlled trials (RCTs) are necessary to evaluate the efficacy of novel treatments for epilepsy. However, there have been concerning increases in the placebo responder rate over time. To understand these trends, we evaluated features associated with increased placebo responder rate.
• RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures
  21. Dezember 2024
  CONCLUSION: Missense variants in DBD correlate to a more severe cerebellar phenotype. The RORA-NDD triad comprises developmental disability, cerebellar features and a spectrum of myoclonic epilepsy.
• Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)
  21. Dezember 2024
  The Houge type of X-linked syndromic intellectual developmental disorder (MRXSHG) encompasses a spectrum of neurodevelopmental disorders characterized by intellectual disability (ID), language/speech delay, attention issues, and epilepsy. These conditions arise from hemizygous or heterozygous deletions, along with point mutations, affecting CNKSR2, a gene located at Xp22.12. CNKSR2, also known as CNK2 or MAGUIN, functions as a synaptic scaffolding molecule within the neuronal postsynaptic...
• Intracranial multimodal monitoring in neurocritical care (Neurocore-iMMM): an open, decentralized consensus
  21. Dezember 2024
  CONCLUSION: This consensus establishes foundational COS and reporting guidelines for iMMM in neurocritical care. These harmonization tools can enhance research quality, comparability, and reproducibility, facilitating evidence-based practices for this emerging technology. However, challenges remain in developing purpose-specific guidelines and adapting them to diverse clinical and research settings.
• Guidelines for Seizure Prophylaxis in Patients Hospitalized with Nontraumatic Intracerebral Hemorrhage: A Clinical Practice Guideline for Health Care Professionals from the Neurocritical Care Society
  20. Dezember 2024
  CONCLUSIONS: We suggest avoidance of prophylactic ASM in hospitalized adult patients with acute nontraumatic ICH (weak recommendation, very low quality of evidence). If used, we suggest LEV over PHT/fPHT (weak recommendation, very low quality of evidence) for a short duration (≤ 7 days; weak recommendation, very low quality of evidence).
• Detection of Crossed Cerebellar Diaschisis in Intractable Epilepsy Using Integrated (18)F-FDG PET/MR Imaging
  20. Dezember 2024
  Crossed cerebellar diaschisis(CCD) involves reduced metabolism and blood flow in the cerebellar hemisphere contralateral to a supratentorial lesion. ASL is a valuable tool for quantifying regional cerebral blood flow. This study assesses ASL-MRI's ability to detect CCD in epilepsy using integrated ^(18)F-FDG PET/MRI and compares ASL with PET images in evaluating CCD. 74 patients with drug-refractory epilepsy who underwent integrated ^(18)F-FDG PET/MRI pre-surgery and CT/MRI post-surgery was...
• Developmental coordination disorder and epilepsy
  20. Dezember 2024
  No abstract
• Modified Atkins Diet versus low glycemic index treatment in children with drug-resistant epilepsy: A systematic review and meta-analysis
  20. Dezember 2024
  CONCLUSION: Both MAD and LGIT are comparable in efficacy, but LGIT is associated with fewer adverse effects.
• Epilepsy research highlights in 2024: avenues for discovery
  20. Dezember 2024
  No abstract
• Lasting and extensive consequences of left mesial temporal lobe seizures on electrical cortical activity
  20. Dezember 2024
  BACKGROUND AND OBJECTIVES: Focal epilepsies disrupt long-range networks with seizure recurrence driving both regional and global alterations in connectivity networks. While prior studies have focused on the interictal consequences, limited data exist on the direct aftermath of focal seizures. We hypothesize that mesial temporal lobe seizures lead to enduring cortical disorganization. The aim was to assess the effects of a mesial temporal lobe seizure on cortical activity and understand how the...
• Promising therapeutic strategies for lennox-gastaut syndrome: what's new?
  20. Dezember 2024
  INTRODUCTION: The seizures in Lennox-Gastaut syndrome are typically resistant to treatment. Seven antiseizure medications (ASMs) in the US (six in the UK/EU) are licensed for the treatment of seizures in LGS: lamotrigine, topiramate, rufinamide, clobazam, felbamate (not licensed in the UK/EU), cannabidiol and fenfluramine. Other options include neurostimulation, corpus callosotomy and dietary therapies, principally the ketogenic diet and its variants. New treatments and therapeutic strategies...
• Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus
  20. Dezember 2024
  Autism spectrum disorder (ASD) exhibits an ∼4:1 male-to-female sex bias and is characterized by early-onset impairment of social/communication skills, restricted interests, and stereotyped behaviors. Disruption of the Xp22.11 locus has been associated with ASD in males. This locus includes the three-exon PTCHD1, an adjacent multi-isoform long noncoding RNA (lncRNA) named PTCHD1-AS (spanning ∼1 Mb), and a poorly characterized single-exon RNA helicase named DDX53 that is intronic to PTCHD1-AS....
• Measuring the Burden of Epilepsy Hospitalizations in CDKL5 Deficiency Disorder
  20. Dezember 2024
  CONCLUSION: There is an urgent need for much better seizure management in CDKL5 deficiency disorder given the hospitalization burden especially in the preschool age group and the multiplicity of antiseizure medications being used.
• Elementary school enrollment after ACTH therapy for patients with infantile epileptic spasms syndrome
  20. Dezember 2024
  CONCLUSION: Our findings can help pediatricians predict elementary school enrollment and neurodevelopmental outcomes in patients with IESS receiving ACTH therapy.
• Child Neurology: Neurophysiologic and Anatomical Correlates in Startle Epilepsy: A Comprehensive SEEG Investigation for Successful Resective Surgery
  20. Dezember 2024
  Startle epilepsy, characterized by startle-provoked epileptic seizures, was historically recognized as one of the reflex epilepsies but currently lacks classification as a specific epileptic syndrome because of insufficient characterization. This study presents an institutional experience and review of relevant literature focusing on the neurophysiologic and anatomical aspects of startle epilepsy. We describe a pediatric patient with an underlying structural etiology of left frontal...
• The limbic and extra-limbic encephalitis associated with glutamic acid decarboxylase (GAD)-65 antibodies: an observational study
  20. Dezember 2024
  We aimed to define the clinical features and outcomes of encephalitis associated with anti-GAD65 Abs. In addition, we reviewed cases published in the literature with GAD65 encephalitis. We retrospectively studied 482 consecutive patients attending a tertiary care center for evaluation of an autoimmune neurological disorder. Nineteen patients were enrolled (3.94% of the cohort). Twelve (63.16%) patients were females, and the mean age at onset of the cohort was 31.68 ± 13.88 years. The following...
• Undiagnosed Schizencephaly Presenting as Breakthrough Seizures
  20. Dezember 2024
  CASE PRESENTATION: A 19-year-old male presented for evaluation of breakthrough seizures after inability to refill his medication following recent immigration from Haiti. Previously, the patient had never received neuroimaging due to financial constraints and resource scarcity. Computed tomography and magnetic resonance imaging obtained in the emergency department was significant for large right frontoparietal open-lip schizencephaly with mass effect, a rare congenital neurologic disorder...
• Corticolimbic structures activation during preparation and execution of respiratory manoeuvres in voluntary olfactory sampling: An intracranial EEG study
  20. Dezember 2024
  Volitional respiratory manoeuvres such as sniffing and apnoea play a key role in the active olfactory exploration of the environment. Their impairment by neurodegenerative processes could thus impair olfactory abilities with the ensuing impact on quality of life. Functional brain imaging studies have identified brain networks engaged in sniffing and voluntary apnoea, comprising the primary motor and somatosensory cortices, the insula, the anterior cingulate cortex and the amygdala. The temporal...
• Implementation of a pharmacist-driven ketogenic diet protocol at an academic, quaternary pediatric referral center
  20. Dezember 2024
  In an effort to expedite the publication of articles, AJHP is posting manuscripts online as soon as possible after acceptance. Accepted manuscripts have been peer-reviewed and copyedited, but are posted online before technical formatting and author proofing. These manuscripts are not the final version of record and will be replaced with the final article (formatted per AJHP style and proofed by the authors) at a later time.
• Community-onset pediatric status epilepticus: Barriers to care and outcomes in a real-world setting
  20. Dezember 2024
  OBJECTIVE: Status epilepticus (SE) is a neurological emergency in childhood, often leading to neuronal damage and long-term outcomes. The study aims to identify barriers in the pre-hospital and in-hospital management of community-onset pediatric SE and to evaluate the effectiveness of pediatric scores on outcomes prediction.
• A single-center learning curve for stereotactic laser amygdalohippocampotomy and a surgical framework to manage failures
  20. Dezember 2024
  OBJECTIVE: Stereotactic laser amygdalohippocampotomy (SLAH) is a minimally invasive procedure for mesial temporal lobe epilepsy that preserves more tissue than open procedures. As a result, although patients have better functional outcomes, more patients do not achieve seizure freedom. The rate at which this occurs is evolving with improved surgical practices. However, the risks and benefits of further surgical management for these patients remains a question with limited data to guide...
• Takotsubo Cardiomyopathy in Epilepsy: A Systematic insight into the Existing Literature from 2000-2023
  20. Dezember 2024
  CONCLUSION: TCM in epilepsy patients evinces significant female predominance, with pathophysiology rooted in seizure-induced catecholamine surge. Early recognition in high-risk patients is essential in preventing complications.
• Zebrafish Provide Critical Insights in a Sea of Genes
  20. Dezember 2024
  No abstract
• Insights and progress on the biosynthesis, metabolism, and physiological functions of gamma-aminobutyric acid (GABA): a review
  20. Dezember 2024
  GABA (γ-aminobutyric acid) is a non-protein amino acid that occurs naturally in the human brain, animals, plants and microorganisms. It is primarily produced by the irreversible action of glutamic acid decarboxylase (GAD) on the α-decarboxylation of L-glutamic acid. As a major neurotransmitter in the brain, GABA plays a crucial role in behavior, cognition, and the body's stress response. GABA is mainly synthesized through the GABA shunt and the polyamine degradation pathways. It works through...
• Causal Relationships Between Epilepsy, Anti-Epileptic Drugs, and Serum Vitamin D and Vitamin D Binding Protein: A Bidirectional and Drug Target Mendelian Randomization Study
  20. Dezember 2024
  CONCLUSION: No causal relationships were found between genetically determined serum 25(OH)D levels, VDBP, and epilepsy or its subtypes. Furthermore, the use of AEDs, such as Carbamazepine, Oxcarbazepine, Progabide, and Valproic Acid, reduces serum 25(OH)D levels, while not affect VDBP levels.
• Exploring individual differences in amygdala-mediated memory modulation
  20. Dezember 2024
  Amygdala activation by emotional arousal during memory formation can prioritize events for long-term memory. Building upon our prior demonstration that brief electrical stimulation to the human amygdala reliably improved long-term recognition memory for images of neutral objects without eliciting an emotional response, our study aims to explore and describe individual differences and stimulation-related factors in amygdala-mediated memory modulation. Thirty-one patients undergoing intracranial...
• Testing perioperative meloxicam analgesia to enhance welfare while preserving model validity in an inflammation-induced seizure model
  20. Dezember 2024
  Despite the international effort to improve laboratory animal welfare through the 3R principles (Reduce, Refine, Replace), many scientists still fail to implement and report their assessment of pain and well-being, likely due to concerns regarding the potential effects of analgesics on experimental outcomes. This study aimed to determine whether refining our viral encephalitis model with perioperative analgesia could enhance well-being and recovery after intracerebral virus infection without...
• Quality of care and associated factors among patients with epilepsy at public hospitals in Arba Minch Town: a facility-based cross-sectional study
  20. Dezember 2024
  CONCLUSION: The quality of care provided to adult epilepsy patients at Arba Minch was low. In addition, patient knowledge, medication adherence, and the seizure control rate were also suboptimal. Therefore, addressing identified factors by involving all relevant stakeholders (health professionals, hospitals, zonal health departments, regional health bureaus, and patients) is critical for improving the quality of care. In addition, researchers willing to study this topic should use strong designs...
• Strategies to innovate emergency care of status epilepticus
  19. Dezember 2024
  Generalized Convulsive status epilepticus (SE) is a neurological emergency because prolonged convulsions can cause respiratory compromise and neuronal injury. Compromised GABA-mediated inhibition is a defining feature of SE, and many current therapies are benzodiazepines, which are allosteric modulators of GABA-A receptors. Many patients with medically refractory epilepsy are at risk for SE. Newly available nasally delivered benzodiazepines: midazolam and diazepam given for seizure clusters may...
• Early initiation of intravenous cyclophosphamide and one-year outcome in super-refractory cryptogenic-new onset refractory status epilepticus
  19. Dezember 2024
  To explore the potential efficacy of early initiation of intravenous cyclophosphamide (IVCPA), we reviewed consecutive four cases of super-refractory cryptogenic-new onset refractory status epilepticus (C-NORSE) between 2015 and 2023. We compared functional outcomes at 3 months and 1 year after the onset between patients who received IVCPA within 20 days (early-treated) and those who received it later (late-treated). All patients (median age: 43 years) had a prodromal fever. Brain MRI revealed...
• A high seizure burden increases brain concentrations of specialized pro-resolving mediators in Scn1a^+/- mouse model of Dravet syndrome
  19. Dezember 2024
  OBJECTIVE: Dravet syndrome is a severe, intractable epilepsy in which 80% of patients have a de novo mutation in the gene SCN1A. We recently reported that a high seizure burden increased hippocampal concentrations of an array of pro-inflammatory prostaglandins in the Scn1a^(+/-) mouse model of Dravet syndrome. This raised the possibility that a high seizure burden might also trigger the accumulation of specialized pro-resolving mediators that facilitate the resolution of neuroinflammation and...
• Parametrization of the dying brain: A case report from ICU bed-side EEG monitoring
  19. Dezember 2024
  CONCLUSION: Even in patients with coma, temporal dynamics in quantitative EEG features (including the aperiodic components) can be observed in the final hour before death.
• Evaluation of the relationships between psychiatric comorbidity and seizure semiology in psychogenic non-epileptic seizure patients
  19. Dezember 2024
  Psychogenic non-epileptic seizures (PNES) are episodic events that bear a resemblance to epileptic seizures (ES) in their outward manifestations, yet they lack pathological electroencephalographic (EEG) activity during the ictal phase. In the Diagnostic and Statistical Manual 5th Edition (DSM-5), PNES is designated as "Functional Neurological Symptom Disorder with seizures". Individuals diagnosed with PNES commonly present with concurrent psychiatric disorders, notably depression, panic...
• Refining management strategies for Lennox-Gastaut syndrome: Updated algorithms and practical approaches
  19. Dezember 2024
  Lennox-Gastaut syndrome (LGS) is a severe developmental and epileptic encephalopathy (DEE) characterized by multiple types of drug-resistant seizures (which must include tonic seizures) with classical onset before 8 years (although some cases with later onset have also been described), abnormal electroencephalographic features, and cognitive and behavioral impairments. Management and treatment of LGS are challenging, due to associated comorbidities and the treatment resistance of seizures. A...
• Exome and Genome Sequencing to Diagnose the Genetic Basis of Neonatal Hypotonia: An International Consortium Study
  19. Dezember 2024
  BACKGROUND AND OBJECTIVES: Hypotonia is a relatively common finding among infants in the neonatal intensive care unit (NICU). Consideration of genetic testing is recommended early in the care of infants with unexplained hypotonia. We aimed to assess the diagnostic yield and overall impact of exome and genome sequencing (ES and GS).
• Hypoparathyroidism, sensorineural deafness and renal disease (HDR) syndrome due to a novel GATA3 mutation p.Ala287Asp
  19. Dezember 2024
  SUMMARY: HDR is a rare autosomal dominant genetic disorder characterized by the triad of hypoparathyroidism, sensorineural deafness and renal anomalies caused by haploinsufficiency loss of function of the GATA-binding protein 3 (GATA3) gene. We present a case of a 56-year-old male diagnosed with hypoparathyroidism, sensorineural deafness, renal hypoplasia and epilepsy. Genetic testing revealed a novel GATA3 heterozygous mutation c.860C>A with a predicted amino acid substitution p.Ala287Asp. This...
• Comorbidity Among Adults With Epilepsy - United States, 2021-2022
  19. Dezember 2024
  While it is known that epilepsy often co-occurs with psychiatric disorders, few studies have examined nonpsychiatric comorbidity. We analyzed 2021 and 2022 National Health Interview Survey Sample Adult data. Compared with adults with no epilepsy, the 1.2% of US adults (about 3.0 million) with active epilepsy had a higher prevalence of nearly all 21 conditions examined and were more likely to have 4 or more co-occurring chronic conditions. Health care and social service providers can promote...
• Cannabigerol Mitigates Haloperidol-Induced Vacuous Chewing Movements in Mice
  19. Dezember 2024
  Chronic use of typical antipsychotics can lead to varying motor effects depending on the timing of analysis. Acute treatment typically induces hypokinesia, resembling parkinsonism, while repeated use can result in tardive dyskinesia, a hyperkinetic syndrome marked by involuntary orofacial movements, such as vacuous chewing movements in mice. Tardive dyskinesia is particularly concerning due to its potential irreversibility and associated motor discomfort. One prevailing theory suggests that...
• ESR Essentials: Image evaluation of patients with seizures and epilepsy-practice recommendations by the European Society of Neuroradiology
  19. Dezember 2024
  Epilepsy, a neurological disorder characterised by recurrent seizures, poses significant challenges in diagnosis, treatment, and management. Understanding the underlying causes and identifying precise anatomical locations of epileptogenic foci are critical for effective management strategies, particularly in drug-resistant patients. Neuroimaging techniques, particularly magnetic resonance (MR), play a pivotal role in the evaluation of epilepsy patients, offering insights into structural...
• Effects of valproic acid, levetiracetam, carbamazepine, and oxcarbazepine on thyroid function tests in children
  19. Dezember 2024
  CONCLUSION: Despite significant changes in thyroid hormone levels with valproic acid, carbamazepine, and oxcarbazepine treatment, no significant clinical findings were observed. Additionally, no effect of levetiracetam on thyroid function tests was detected.
• Updates on neurologic manifestations of mitochondrial disease
  19. Dezember 2024
  PURPOSE OF REVIEW: Primary mitochondrial disease (PMD) is diverse both genetically and phenotypically. Neurologic manifestations are present at a high rate and often pose complications for providers. The review will discuss common manifestations and how advances in genetic testing have broadened understanding of PMDs.
• A Comprehensive Stereology Method for Quantitative Evaluation of Neuronal Injury, Neurodegeneration, and Neurogenesis in Brain Disorders
  19. Dezember 2024
  Neuronal injury, neurodegeneration, and neuroanatomical changes are key pathological features of various neurological disorders, including epilepsy, stroke, traumatic brain injury, Parkinson's disease, autism, and Alzheimer's disease. Accurate quantification of neurons and interneurons in different brain regions is critical for understanding the progression of neurodegenerative disorders in animal models. Traditional scoring methods are often superficial, biased, and unreliable for evaluating...
• Community-based epilepsy care in an onchocerciasis-endemic area: A 3-year cohort study in Mahenge, Tanzania
  19. Dezember 2024
  OBJECTIVE: In onchocerciasis-endemic areas, limited access to antiseizure medications (ASMs) contributes to a high epilepsy burden. This study evaluated the impact of a community-based epilepsy care program in Mahenge, Tanzania, an onchocerciasis-endemic area with high epilepsy prevalence.
• Verbal paired associates learning lateralizes left hippocampal sclerosis in temporal lobe epilepsy
  19. Dezember 2024
  OBJECTIVE: Left hippocampal sclerosis (HS) is associated with verbal-specific memory impairment. This association is well established for word list learning tasks, and there is some evidence that this may also be relevant to verbal paired associates learning (PAL), though the evidence is limited. We aimed to evaluate the utility of verbal PAL as a marker for left HS, compare this with word list learning, and derive cutoff scores to facilitate clinical application.
• Combination of Autodisplay and Dynamic Pharmacophore Modeling Reveals New Insights into Cyclic Nucleotide Binding in Hyperpolarization-Activated and Cyclic Nucleotide-Gated Ion Channel 4 (HCN4)
  19. Dezember 2024
  Hyperpolarization-activated cyclic nucleotide-gated (HCN) ion channels play a critical role in regulating neuronal and cardiac rhythmicity, with their function being modulated by cyclic nucleotide binding. Dysfunction of HCN ion channels leads to the genesis of several diseases such as arrhythmia, bradycardia, or epilepsy. This study employs a multidisciplinary approach integrating mutagenesis, ligand binding assays, and molecular dynamics (MD) simulations combined with dynamic pharmacophore...
• A Comprehensive Overview of the Current Status and Advancements in Various Treatment Strategies against Epilepsy
  19. Dezember 2024
  Epilepsy affects more than 70 million individuals of all ages worldwide and remains one of the most severe chronic noncommunicable neurological diseases globally. Several neurotransmitters, membrane protein channels, receptors, enzymes, and, more recently noted, various pathways, such as inflammatory and mTORC complexes, play significant roles in the initiation and propagation of seizures. Over the past two decades, significant developments have been made in the diagnosis and treatment of...
• Pregabalin treatment in a 30-year-old patient with Bainbridge-Ropers syndrome: a case-report
  19. Dezember 2024
  Mr. X is a Swiss patient with Bainbridge-Ropers syndrome clinically and genetically diagnosed at the age of 28. He is also known to have severe intellectual disability, autism spectrum disorder and epilepsy since the age of 18. At the age of 30, he was admitted for the first time to a psychiatric crisis unit dedicated to mental disabilities for challenging behavior such as self-aggression (forceful vomiting, scratching himself, pulling out his toe and fingernails or banging his head against the...
• Yield of Tilt Table Test in Diagnosing Syncope in Patients With Suspected Neurally Mediated Syncope
  19. Dezember 2024
  CONCLUSIONS: The TTT is beneficial in diagnosing syncope in males and females and patients of young and old ages. A provocative test utilizing NTG provides a shorter, more straightforward test with the same diagnostic accuracy as the isoproterenol test. Lifestyle modification is effective and remains the primary intervention in managing patients with NMS.
• Saint Paul, the Apostle, and the Gastaut-Geschwind syndrome
  19. Dezember 2024
  The interface between epilepsy and religiosity has been a long-standing matter of debate. Epilepsy has affected several religious leaders throughout history. Hyperreligiosity may be observed in patients with temporal lobe epilepsy as a component of the so-called Gastaut-Geschwind syndrome which involves other behavioral and personality traits such as hyposexuality, viscosity, philosophical concerns, sense of personal destiny, hypergraphy, emotionality, and irritability. Saint Paul, the Apostle,...
• Hyperglycemia-induced isolated aphasic status epilepticus a case-report and literature review
  19. Dezember 2024
  Neurological manifestations of nonketotic hyperglycemia are frequently seen, with mainly symptoms of confusion or coma. While hyperglycemia-induced seizures are less common, isolated aphasic status epilepticus is very rare, difficult to diagnose, and may be unrecognized by clinicians. In this case report, a 51-year-old man who presented with confusion and incoherent speech for two weeks is discussed. He was diagnosed with nonketotic hyperglycemia, whose electroencephalography (EEG) findings were...
• Composite dietary antioxidant index mediates the effect of epilepsy on psychiatric disorders: results from NHANES 2013-2018
  19. Dezember 2024
  CONCLUSION: Our findings suggest that patients with epilepsy have a high risk of developing psychiatric disorders and that the Composite Dietary Antioxidant Index (CDAI) plays a key role in mediating the relationship between epilepsy and psychiatric disorders.
• Efficiency and safety of cannabinoid medical use: an analysis of discussions and observed trends on Instagram
  19. Dezember 2024
  CONCLUSION: Analysis of content on the social media Instagram can complement traditional scientific research by providing information on the real use of cannabis and its derivatives, contributing to the development of safe and effective recommendations for its use.
• Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression
  19. Dezember 2024
  CONCLUSION: In aggregate, this combined analysis uncovers an interplay between MECP2 dosage, genomic rearrangement structure and phenotypic traits. Whereas the level of MECP2 is a key determinant of the phenotype, the DNA rearrangement structure can contribute to clinical severity and disease expression variability. Employing this type of analytical approach will advance our understanding of the impact of genomic rearrangements on genomic disorders and may help guide more targeted therapeutic...
• A case report about focal status epilepticus as first presentation in Alzheimer's disease: finding the culprit
  19. Dezember 2024
  CONCLUSION: This case highlights the significant role of neuronal hyperexcitability in early AD pathogenesis and how shared mechanisms between AD and epilepsy can complicate clinical management.
• Associations of risk factors and the number of risk factors with the classification, GMFCS level and comorbidities with cerebral palsy: a retrospective study
  18. Dezember 2024
  CONCLUSION: Most children with CP have apparent risk factors, and the combination of two risk factors is relatively common. Preterm birth/low birth weight is the most common risk factor. The analysis of single risk factors revealed that the risk factors were related to the classification, GMFCS level and comorbidities. This correlation is consistent with the current research. Risk factors were more common in children with severe CP, high GMFCS levels, spastic quadriplegia, and intellectual...
• Annotated interictal discharges in intracranial EEG sleep data and related machine learning detection scheme
  18. Dezember 2024
  Interictal epileptiform discharges (IEDs) such as spikes and sharp waves represent pathological electrophysiological activities occurring in epilepsy patients between seizures. IEDs occur preferentially during non-rapid eye movement (NREM) sleep and are associated with impaired memory and cognition. Despite growing interest, most studies involving IED detections rely on visual annotations or employ simple amplitude threshold approaches. Alternatively, advanced computerized detection methods are...
• The Epilepsy-Aphasia Syndrome gene, Cnksr2, Plays a Critical Role in the Anterior Cingulate Cortex Mediating Vocal Communication
  18. Dezember 2024
  Epilepsy Aphasia Syndrome (EAS) is a spectrum of childhood disorders that exhibit complex co-morbidities that include epilepsy and the emergence of cognitive and language disorders. CNKSR2 is an X-linked gene in which mutations are linked to EAS. We previously demonstrated Cnksr2 knockout (KO) mice model key phenotypes of EAS analogous to those present in clinical patients with mutations in the gene. Cnksr2 KO mice have increased seizures, impaired learning and memory, increased levels of...
• Drug arrows in the quiver-antiseizure, antiepileptic and neuroprotective medication: Treatment and future aspects. A focused review
  18. Dezember 2024
  Drug discovery for the treatment of epilepsy is entering a new era especially with the advancement of genetic therapies as disease modifying, antiepileptogenic therapies. Even new ideas about re-purposed medication with purposed epileptogenic properties have been suggested. The possibilities are enormous, and it is encouraging that so many ideas are flourishing. The focus of this review is to discuss where to concentrate efforts to improve the lives of people with epilepsy (PWE) with medical...
• Case of ictal aphasia and post-ictal aphasia due to focal epilepsy associated with cerebral hemorrhage
  18. Dezember 2024
  The patient was a 69-year-old right-handed woman. She had sensory aphasia, and the brain MRI revealed a subacute phase hemorrhage in the left subcortical temporal lobe. We speculated that the patient had post-ictal aphasia due to symptomatic epileptic seizures associated with cerebral hemorrhage. Seven months later, she was readmitted to the hospital with sensory aphasia; however, this time, the brain MRI FLAIR demonstrated high signal in the left medial temporal lobe and thalamic pillow....
• A case of paroxysmal dysarthria and ataxia appeared late after treatment of myelin oligodendrocyte glycoprotein (MOG) antibody-related isolated rhombencephalitis
  18. Dezember 2024
  A 49-year-old female was admitted to our hospital due to acute-onset dysarthria and unstable gait. Brain MR diffusion weighted imaging revealed high signal intensities in the midbrain. Brain tumors, abscess and demyelinating lesions was suspected firstly as etiology of the lesion and antibiotics and antiviral drug were started under consulting with the neurosurgeon about brain biopsy. However, despite these treatment her symptoms were deteriorated gradually and intravenous high dose...
• Fluvastatin, an HMG-CoA reductase inhibitor, exerts protective effect against NMDA-induced seizure by increasing the seizure threshold and modulating membrane excitability in embryonic rat cortical neuron
  18. Dezember 2024
  CONCLUSION: Our findings suggested that fluvastatin may protect against seizure types related to neuronal excitability and NMDA receptor activation by inhibiting NMDA-mediated action potentials, NMDA receptor-mediated currents, BK(Ca) channels, and sodium channels.
• Effects of oxotremorine on convulsions in mice induced by scopolamine and food intake after fasting
  18. Dezember 2024
  Antimuscarinic administration and food intake cause convulsions in mice and rats after fasting for 48h or less. Increased M(1) and M(2) muscarinic receptor expression in brain regions during fasting, and reversal of changes by refeeding may contribute to these seizures. Since receptor expression is regulated in response to agonist stimulation, this study investigated effects of nonselective muscarinic receptor agonist oxotremorine on convulsions in fasted animals. Mice deprived of food for 24h...
• Ligand-receptor interactions: A key to understanding microglia and astrocyte roles in epilepsy
  18. Dezember 2024
  Epilepsy continues to pose significant social and economic challenges on a global scale. Existing therapeutic approaches predominantly revolve around neurocentric mechanisms, and fail to control seizures in approximately one-third of patients. This underscores the pressing need for novel and complementary treatment approaches to address this gap. An increasing body of literature points to a role for glial cells, including microglia and astrocytes, in the pathogenesis of epilepsy. Notably,...
• Effect of antiepileptic drug monotherapy on endogenous sex hormonal profile in men and women with epilepsy
  18. Dezember 2024
  OBJECTIVE: To assess the alterations of endogenous sex hormone profiles in patients with epilepsy (PWE) on different antiepileptic drug (AED) monotherapies compared to healthy controls and drug naïve PWE (DNPWE).
• Multi-dimensional hybrid bilinear CNN-LSTM models for epileptic seizure detection and prediction using EEG signals
  18. Dezember 2024
  OBJECTIVE: Automatic detection and prediction of epilepsy are crucial for improving patient care and quality of life. However, existing methods typically focus on single-dimensional information and often confuse the periodic and aperiodic components in electrophysiological signals.
• Non-parametric full cross mapping (NFCM): a highly-stable measure for causal brain network and a pilot application
  18. Dezember 2024
  OBJECTIVE: Measuring causal brain network from neurophysiological signals has recently attracted much attention in the field of neuroinformatics. Traditional data-driven algorithms are computationally time-consuming and unstable due to parameter settings.
• Comparison of the Cone Beam Computed Tomography-Based Analysis of the Masseter Muscle Between Epilepsy Patients and Healthy Subjects
  18. Dezember 2024
  It is important to investigate the changes in the masseter muscle, one of the chewing muscles, in epilepsy patients and to determine whether epilepsy can be effectively predicted on muscle. The aim of this study is to measure masseter muscle thickness, circumference and cross-sectional area in individuals with epilepsy and healthy individuals. This study was performed with 128 individuals (64 epilepsy patients and 64 healthy subjects) aged between 18 to 59 years. The mean cross-sectional area,...
• Ketogenic diet as a therapeutic approach in autism spectrum disorder: a narrative review
  18. Dezember 2024
  The ketogenic diet (KD) originated in the 1920s. It is a dietary model that is low in carbohydrates, adequate in protein, and high in fat content. The diet mimics starvation and increases the production of ketone bodies, leading to ketosis in metabolism. KD is used as an anticonvulsant treatment approach in patients with drug-resistant epilepsy. In addition, it is thought that a KD may have therapeutic potential in the treatment of neurological disorders, including autism spectrum disorders...
• Clinical and genetic characterization of a progressive RBL2-associated neurodevelopmental disorder
  18. Dezember 2024
  Retinoblastoma (RB) proteins are highly conserved transcriptional regulators that play important roles during development by regulating cell-cycle gene expression. RBL2 dysfunction has been linked to a severe neurodevelopmental disorder. However, to date, clinical features have only been described in six individuals carrying five biallelic predicted loss of function (pLOF) variants. To define the phenotypic effects of RBL2 mutations in detail, we identified and clinically characterized a cohort...
• Postmarketing Safety Surveillance of Topiramate: A Signal Detection and Analysis Study Based on the FDA Adverse Event Reporting System Database
  18. Dezember 2024
  CONCLUSION: This study identified several unexpected and serious adverse reaction signals that align with previously reported cases. These findings underscore the need for ongoing study, focused attention, and vigilant monitoring during the clinical use of topiramate.
• Abnormalities in brain magnetic resonance imaging associated with vigabatrin therapy in an infant with infantile epileptic spasms syndrome
  18. Dezember 2024
  CONCLUSION: We report an infant with infantile epileptic spasms syndrome treated with vigabatrin who developed abnormalities on magnetic resonance imaging. There is currently no treatment other than drug withdrawal or reduction.
• The Antiepileptic Drug Levetiracetam Inhibits Carbonic Anhydrase: In Vitro and In Silico Studies on Catalytically Active Human Isoforms
  18. Dezember 2024
  Several antiepileptic drugs (AEDs) have been found to inhibit human carbonic anhydrases (hCAs), paving the way for repurposing AEDs for the treatment of various diseases, including cancer. Here, the hCAs inhibitory effects of levetiracetam, a highly prescribed AED that does not bear a common zinc-binding group, were investigated in vitro and in silico. Levetiracetam inhibited all tested hCAs, although with a specific profile compared to the reference acetazolamide, with remarkable efficacy...
• Circadian rhythm and epilepsy: a nationally representative cross-sectional study based on actigraphy data
  18. Dezember 2024
  CONCLUSION: Individuals with epilepsy demonstrate significant alterations in circadian rhythms.
• Resolution of Fenfluramine-associated pulmonary arterial hypertension in Lennox-Gastaut syndrome: A case report and literature review
  18. Dezember 2024
  Fenfluramine is a medication originally approved for weight loss before being withdrawn for an association with the development of pulmonary arterial hypertension (PAH) and cardiac valvulopathy. Interest in fenfluramine at lower doses has re-emerged for treatment of drug-resistant epilepsy (DRE). Here, we present a case of a patient with Lennox-Gastaut Syndrome (LGS) treated with fenfluramine with development of PAH and tricuspid regurgitation that resolved upon discontinuation. A 4-year-old...
• Alpha rhythm slowing in temporal lobe epilepsy across scalp EEG and MEG
  18. Dezember 2024
  EEG slowing is reported in various neurological disorders including Alzheimer's, Parkinson's and Epilepsy. Here, we investigate alpha rhythm slowing in individuals with refractory temporal lobe epilepsy compared with healthy controls, using scalp EEG and magnetoencephalography. We retrospectively analysed data from 17 (46) healthy controls and 22 (24) individuals with temporal lobe epilepsy who underwent scalp EEG and magnetoencephalography recordings as part of presurgical evaluation....
• Risk of Bleed During Pregnancy in Women with Epilepsy Due to Cerebral Vascular Malformations
  18. Dezember 2024
  CONCLUSIONS: Maternal and fetal outcomes were comparable for the EVM and ENVM groups, but the former had a higher rate of cesarean section. AVM bled during pregnancy for 15% of women.
• An open-label study evaluating the safety and efficacy of AMO-01 for the treatment of seizures in Phelan-McDermid syndrome
  18. Dezember 2024
  Phelan-McDermid syndrome (PMS) is a neurodevelopmental disorder caused by haploinsufficiency of the SHANK3 gene. Approximately 25% of individuals with PMS have epilepsy. Treatment of epilepsy in PMS may require multiple anticonvulsants, and in a minority of cases, seizures remain poorly controlled. Converging lines of evidence in different experimental models indicate that the Ras-ERK pathway is implicated in the pathophysiology of seizure generation and neurobehavioral symptoms in PMS. The goal...
• Brain microstructural abnormalities assessed by diffusion kurtosis MRI in patients with focal temporal lobe epilepsy
  18. Dezember 2024
  CONCLUSION: In patients with an epileptic focus in the r-TL, microstructural changes are observed not only in the area of the epileptic focus, but also in the affected temporal lobe as a whole, and also mirrored in the conditionally healthy temporal lobe. Altered microstructure in the mirror region may reflect changes secondary to bilateral tonic-clonic seizures or evolution to secondary epileptogenic zone. Assessment of DK MRI parameters may provide additional information about the...
• Seizure Detection and Lateralization Using Thalamic Deep Brain Stimulator Recordings
  18. Dezember 2024
  The lack of reliable seizure detection remains a significant challenge for epilepsy care. A clinical deep brain stimulation (DBS) system provides constrained ambulatory brain recordings; however, limited data exist on the use of DBS recordings for seizure detection and lateralization. We present the case of an 18-year-old patient with drug-resistant focal epilepsy, who had seizure detection and lateralization by DBS recordings. Prior stereotactic-EEG, including a thalamus lead, identified...
• Adverse events of nusinersen: a real-world drug safety surveillance study based on the FDA adverse event reporting system (FAERS) database
  17. Dezember 2024
  CONCLUSIONS: Our investigation discovered potential signals of novel adverse drug events that could support clinical monitoring and risk identification of Nusinersen. However, these results should be interpreted with caution.
• Favorable outcomes and FDG-PET changes following tocilizumab treatment for febrile infection-related epilepsy syndrome in a child
  17. Dezember 2024
  Febrile Infection-Related Epilepsy Syndrome (FIRES) is an infrequent yet severe form of epilepsy that rapidly evolves into status epilepticus following a febrile episode. Prompt diagnosis coupled with effective treatment strategies is critical for improving patient outcomes. Herein, we describe the case of an 11-year-old male with FIRES who was successfully treated with tocilizumab, resulting in no further seizures or residual disability. The patient initially did not respond to antiseizure...
• CACNA1C-Related Disorders
  01. Januar 1993
  CLINICAL CHARACTERISTICS: The clinical manifestations of CACNA1C-related disorders include a spectrum of nonsyndromic and syndromic phenotypes, which generally correlate with the impact of the pathogenic variant on calcium current. Phenotypes can include nonsyndromic long QT syndrome (rate-corrected QT [QTc] interval >480 ms); nonsyndromic short QT syndrome (QTc 350 ms), with risk of sudden death; Brugada syndrome (ST segment elevation in right precordial leads [V1-V2]) with short QT interval;...