A5017169492- Epilepsy research and treatment
- EEG and Brain-Computer Interfaces
- Pharmacological Effects and Toxicity Studies
- Functional Brain Connectivity Studies
- Neuroscience and Neuropharmacology Research
- Genetics and Neurodevelopmental Disorders
- Autoimmune Neurological Disorders and Treatments
- Neural dynamics and brain function
- Migraine and Headache Studies
- Neurological disorders and treatments
- Metabolism and Genetic Disorders
- Vestibular and auditory disorders
- Heart Rate Variability and Autonomic Control
- Complement system in diseases
- Sleep and Wakefulness Research
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Peripheral Neuropathies and Disorders
- Lysosomal Storage Disorders Research
- Erythropoietin and Anemia Treatment
- Neuroscience of respiration and sleep
- Machine Learning in Healthcare
- ECG Monitoring and Analysis
- Tracheal and airway disorders
- Ubiquitin and proteasome pathways
Mattel Children's Hospital
2023-2025
National Center of Neurology and Psychiatry
2024
University of California, Los Angeles
2024
Saitama Children's Medical Center
2018-2023
Tokyo Medical University
2018-2021
St. Luke's International Hospital
2014-2021
Hospices Civils de Lyon
2018
Centre de Recherche en Neurosciences de Lyon
2018
Hôpital Femme Mère Enfant
2018
. This study aims to develop and validate an end-to-end software platform, PyHFO, that streamlines the application of deep learning (DL) methodologies in detecting neurophysiological biomarkers for epileptogenic zones from EEG recordings.
ABSTRACT Epilepsy affects 1% of the population, with up to one-third patients being medication-resistant. Surgery is only curative treatment, yet over surgical fail achieve seizure freedom due lack a reliable epileptogenic zone (EZ) biomarker. We introduced and validated mini-seizures, frequent hypersynchronization events at EZ hubs that mirror network dynamics, as novel interictal EEG Using dynamical networks-based model, we analyzed short intracranial from 159 across two institutions. Our...
Although the role of subcortical structures in generation epileptic spasms has been proposed, supporting evidence remains limited. This study aimed to provide neurophysiological thalamocortical network involvement during spasms. We analyzed four patients (ages 2.7-16.9 years) with who underwent intracranial electroencephalography (EEG) monitoring thalamic sampling preparation for potential neurostimulation. Epileptic were initially assessed using visual inspection and time-frequency...
Accurate detection and classification of high-frequency oscillations (HFOs) in electroencephalography (EEG) recordings have become increasingly important for identifying epileptogenic zones patients with drug-resistant epilepsy. However, few open-source platforms offer comprehensive accessible tools that integrate conventional signal processing modern deep learning approaches biomarker analysis. We introduce PyHFO 2.0, an enhanced platform designed automated detection, classification, expert...
Many algorithms to detect copy number variations (CNVs) using exome sequencing (ES) data have been reported and evaluated on their sensitivity specificity, reproducibility, precision. However, operational optimization of such for a better performance has not fully addressed. ES 1199 samples including 763 patients with different disease profiles was performed. were analyzed CNVs by both the eXome Hidden Markov Model (XHMM) modified Nord's method. To efficiently rare CNVs, we aimed decrease...
ABSTRACT Mutation of the gene encoding ubiquitin‐like modifier‐activating enzyme 5 ( UBA5 ) causes autosomal recessive early‐onset epileptic encephalopathy. acts as an E1‐activating in ubiquitin‐fold modifier 1 pathway, which is important for unfolded protein elimination and regulation apoptosis, has been linked to human diseases. We identified biallelic mutations a Japanese boy with intractable West syndrome, profound failure thrive, severe cerebral cerebellar atrophy. The presented spasms...
ABSTRACT Objective Interictal high-frequency oscillations (HFOs) are a promising neurophysiological biomarker of the epileptogenic zone (EZ). However, objective criteria for distinguishing pathological from physiological HFOs remain elusive, hindering clinical application. We investigated whether distinct mechanisms underlying and encapsulated in their signal morphology intracranial EEG (iEEG) recordings this mechanism-driven distinction could be simulated by deep generative model. Methods...
Hospital-acquired Clostridium difficile infection (CDI) may cause life-threatening colitis for children with cancer, making identification of risk factors important. We described characteristics pediatric cancer patients primary and recurring CDI, evaluated potential factors. Among 189 patients, 51 cases (27%) CDI 94 matched controls without were analyzed. Multivariable logistic regression was used to evaluate the association between several Median age lower (3.3 y; 0.60 16.2) than (7.7 0.4...
Intravenous immunoglobulin (IVIG) therapy is used in the treatment of various diseases, and IVIG-related adverse effects (IVIG-AEs) vary from mild to severe. However, mechanisms underlying IVIG-AEs potential predictive factors are not clear. This study investigated whether certain can be predicted before IVIG administration.This retrospective cohort at Division Neurology, Saitama Children's Medical Center included patients enrolled 2008 2018 who were < 18 years old received for first time....
Abstract Objectives Long‐term adrenocorticotropic therapy (LT‐ACTH), which consisted of 2‐4 weeks daily injections hormone (ACTH) and subsequent months weekly injections, was tried for relapsed West syndrome (WS) or other intractable epilepsies in small case reports. Our aim to explore the efficacy LT‐ACTH preventing WS relapse, as well prevalence its adverse events. Methods This is a retrospective, nationwide, multicenter series patients with who underwent LT‐ACTH. Clinical information...
Although the clinical efficacy of deep brain stimulation targeting anterior nucleus (AN) and centromedian (CM) thalamus has been actively investigated for treatment medication-resistant epilepsy, few studies have dynamic ictal changes in corticothalamic connectivity human electroencephalographic (EEG) recording. This study aims to establish complex spatiotemporal dynamics network associated with various seizure foci.
Background: Migraines are a broad spectrum of disorders classified by the type aura with some requiring attentive treatment. Vasoconstrictors, including triptans, should be avoided in acute phase migraines brainstem aura, hemiplegic migraine, and retinal migraine. This study investigated characteristics burden these migraines. Methods: Medical charts 278 Japanese pediatric patients were retrospectively reviewed. Migraine migraines, migraine was assessed using Headache Impact Test-6™ (HIT-6)...
Abstract Background Nonketotic hyperglycinemia is a severe form of early onset epileptic encephalopathy caused by disturbances in the glycine cleavage system; neurological damage mainly attributed to overstimulation N-methyl-D-aspartate receptor. Case The patient presented with nonketotic and experienced frequent spasms focal seizures, which were resistant vigabatrin, adrenocorticotropic hormone therapy, combined dextromethorphan sodium benzoate treatments. By 9 months age, perampanel...
Recent genome-wide analysis of neuroblastoma (NBL) revealed amplification and heterozygous mutation anaplastic lymphoma kinase (ALK) are responsible for oncogenicity, frequently observed during relapses. A 3-year-old girl with relapsed high-risk NBL had a ALK F1245L at diagnosis, which became homozygous due to uniparental disomy (UPD) the entire chromosome 2, confirmed by single nucleotide polymorphism array variant allele frequency this mutation. The inhibitor, crizotinib, failed control...
This study aimed to investigate the general presentation of epileptic spasms without hypsarrhythmia (ESwoH) and retrospectively determine whether there are differences in treatment effects related ACTH therapy, long-term seizure outcome, evolution EEG features according pre-treatment patterns. According pattern background activity, we divided our cohort into two groups: Group 1: normal activity or with localized intermittent slow waves; 2: waves appearing generalized more lobes. Subjects...
Abstract Some studies have shown that sedative antihistamines prolong febrile seizure duration. Although the collective evidence is still mixed, Japanese Society of Child Neurology released guidelines in 2015 contraindicated use patients with seizure. Focused on addressing limitations previous studies, we conducted a cross-sectional study to evaluate relationship between duration and antihistamines. Data were collected from who visited St. Luke's International Hospital due August 2013...