151,951 results match your criteria: "Absence Seizures"

A bimodal closed-loop neuromodulation implant integrated with ultraflexible probes to treat epilepsy.

Biosens Bioelectron

December 2024

2020 X-Lab, Shanghai Institute of Microsystem and Information Technology, Chinese Academy of Sciences, Shanghai, 200050, China; Center of Materials Science and Optoelectronics Engineering, University of Chinese Academy of Sciences, Beijing, 100049, China; State Key Laboratory of Transducer Technology, Shanghai Institute of Microsystem and Information Technology, Chinese Academy of Sciences, Shanghai, 200050, China; School of Graduate Study, University of Chinese Academy of Sciences, Beijing, 100049, China. Electronic address:

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.

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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.

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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.

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Variants in EP400, encoding a chromatin remodeler, cause epilepsy with neurodevelopmental disorders.

Am J Hum Genet

December 2024

Department of Neurology, Institute of Neuroscience, Key Laboratory of Neurogenetics and Channelopathies of Guangdong Province and the Ministry of Education of China, the Second Affiliated Hospital, Guangzhou Medical University, Guangzhou 510260, Guangdong, China. Electronic address:

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.

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This study examines the relationship between comorbid seizures and dementia among stroke patients using the 2017 Nationwide Inpatient Sample (NIS), the largest publicly available inpatient healthcare database in the United States. We analyzed data from 128,341 stroke patients, including those with ischemic and hemorrhagic strokes, to determine the prevalence of seizures and dementia, and the association between these conditions. Our findings reveal that 7.

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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.

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Neonatal Seizures and Associated Neurobehavioral Profiles in Preschool Age Children.

Pediatr Neurol

November 2024

Division of Rehabilitation Psychology Neuropsychology, Department of Physical Medicine and Rehabilitation, University of Michigan, Ann Arbor, Michigan. Electronic address:

Background: Neonatal seizures are common with acute brain injury. Up to 25% of survivors develop postneonatal epilepsy. We hypothesized postneonatal epilepsy diagnosed by age 24 months would increase risk for early markers of neurobehavioral disorders than acute provoked neonatal seizures alone.

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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.

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Inhibition of the Integrated Stress Response Prevents Natural Forgetting and Corrects Accelerated Forgetting Associated with Epilepsy.

Mol Neurobiol

December 2024

Guangxi Key Laboratory of Brain and Cognitive Neuroscience, Faculty of Basic Medical Sciences, Guilin Medical University, Guilin, 541199, Guangxi, China.

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 accelerated forgetting.

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Modelling the effect of allopregnanolone on the resolution of spike-wave discharges.

J Comput Neurosci

December 2024

Department of Applied Mathematics, and Centre for Theoretical Neuroscience, University of Waterloo, 200 University Avenue W, Waterloo, N2L 3G1, ON, Canada.

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.

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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.

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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.

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RORA-neurodevelopmental disorder: a unique triad of developmental disability, cerebellar anomalies, and myoclonic seizures.

Genet Med

December 2024

Genetics Department, Hospices Civils de Lyon, Lyon, France; Neuromyogene Institute, Pathology and Genetics of neuron and muscle, CNRS UMR 5261 INSERM U1315, University of Lyon - Université Claude Bernard Lyon 1, Lyon, France. Electronic address:

Purpose: RORA encodes the RAR-related orphan receptor-α (RORα), playing a pivotal role in cerebellar maturation and function. Here, we report the largest series of individuals with RORA-related-neurodevelopmental disorder (RORA-NDD).

Methods: Forty individuals (30 unrelated; 10 siblings from 4 families) carrying RORA pathogenic/likely pathogenic variants were collected through an international collaboration.

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Association between infant feeding and ADHD development in childhood: a birth cohort study in Taiwan.

J Child Psychol Psychiatry

December 2024

Graduate Institute of Clinical Medical Science, College of Medicine, China Medical University, Taichung, Taiwan.

Background: Infant feeding plays a vital role in neurodevelopment, and a lack of breastfeeding and complementary feeding may increase the risk of developing attention-deficit/hyperactivity disorder (ADHD). However, empirical evidence on this relationship remains uncertain, as most studies are based on cross-sectional designs. Therefore, this study aimed to examine this temporal relationship using longitudinal data from a birth cohort.

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Neuronal intranuclear inclusion disease (NIID) is a rare progressive neurodegenerative disease with a characteristic pathological feature of eosinophilic hyaluronan inclusions in the nervous system and internal organs. The identification of GGC-repeat expansions in the Notch 2 N-terminal like C (NOTCH2NLC) gene facilitates the accurate diagnosis of NIID. Due to its rareness and high clinical heterogeneity, the diagnosis of NIID is often delayed or missed.

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Background: There is practice heterogeneity in the use, type, and duration of prophylactic antiseizure medications (ASM) in patients hospitalized with acute nontraumatic intracerebral hemorrhage (ICH).

Methods: We conducted a systematic review and meta-analysis assessing ASM primary prophylaxis in adults hospitalized with acute nontraumatic ICH. The following population, intervention, comparison, and outcome (PICO) questions were assessed: (1) Should ASM versus no ASM be used in patients with acute ICH with no history of clinical or electrographic seizures? (2) If an ASM is used, should levetiracetam (LEV) or phenytoin/fosphenytoin (PHT/fPHT) be preferentially used? and (3) If an ASM is used, should a long (> 7 days) versus short (≤ 7 days) duration of prophylaxis be used? The main outcomes assessed were early seizure (≤ 14 days), late seizures (> 14 days), adverse events, mortality, and functional and cognitive outcomes.

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Introduction: Both the Modified Atkins Diet (MAD) and Low Glycemic Index Treatment(LGIT) are considered less restrictive than the ketogenic diet and effective in children with drug-resistant epilepsy(DRE). Several randomized controlled trials (RCTs) have compared these two diets.

Methods: All RCTs directly comparing MAD and LGIT for DRE were included in the review.

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Lasting and extensive consequences of left mesial temporal lobe seizures on electrical cortical activity.

Neuroimage

December 2024

Lille University Hospital, Department of Clinical Neurophysiology, 59037 Lille, France; INSERM U1172, LilNCog - Lille Neuroscience & Cognition, 59000 Lille, France. Electronic address:

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.

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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.

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Child Neurology: Neurophysiologic and Anatomical Correlates in Startle Epilepsy: A Comprehensive SEEG Investigation for Successful Resective Surgery.

Neurology

January 2025

From the Department of Neurological Surgery (J.K., S.H.H.), Asan Medical Center; and Department of Pediatrics (M.-J.K., M.-S.Y., T.-S.K.), Asan Medical Center Children's Hospital, University of Ulsan College of Medicine, Seoul, South Korea.

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 encephalomalacia who continued to experience disabling seizures despite multiple antiseizure medications and previous palliative surgery.

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Transcranial Cortex-Wide Imaging of Murine Ischemic Perfusion With Large-Field Multifocal Illumination Microscopy.

Stroke

January 2025

Institute of Pharmacology and Toxicology, Faculty of Medicine, University of Zurich, Switzerland (Z.C., Q.Z., Y.-H.L., C.G., I.G., M.W., H.A.I.Y., D.R.K., B.W., D.R.).

Background: Ischemic stroke is a common cause of death worldwide and a main cause of morbidity. Presently, laser speckle contrast imaging, x-ray computed tomography, and magnetic resonance imaging are the mainstay for stroke diagnosis and therapeutic monitoring in preclinical studies. These modalities are often limited in terms of their ability to map brain perfusion with sufficient spatial and temporal resolution, thus calling for development of new brain perfusion techniques featuring rapid imaging speed, cost-effectiveness, and ease of use.

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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.

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Undiagnosed Schizencephaly Presenting as Breakthrough Seizures.

Clin Pract Cases Emerg Med

November 2024

Stony Brook Medicine, Department of Emergency Medicine, Stony Brook, New York.

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 previously undiagnosed in this patient with intractable epilepsy.

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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.

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Community-onset pediatric status epilepticus: Barriers to care and outcomes in a real-world setting.

Epilepsia

December 2024

U.O.C. Neuropsichiatria dell'età Pediatrica, Member of the ERN EpiCare, IRCCS Istituto Delle Scienze Neurologiche di Bologna, Bologna, Italy.

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.

Methods: This monocentric observational retrospective cohort study included patients treated for community-onset pediatric SE in a tertiary care hospital between 2010 and 2021.

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