A5017219114- Infectious Encephalopathies and Encephalitis
- Epilepsy research and treatment
- Metabolism and Genetic Disorders
- Neuroscience and Neuropharmacology Research
- Bacterial Infections and Vaccines
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Mitochondrial Function and Pathology
- Neonatal and fetal brain pathology
- Fetal and Pediatric Neurological Disorders
- Neurological disorders and treatments
- Neuroscience of respiration and sleep
- Neural dynamics and brain function
- Herpesvirus Infections and Treatments
- Peripheral Neuropathies and Disorders
- Genetic Neurodegenerative Diseases
- Diet and metabolism studies
- Viral Infections and Immunology Research
- Neonatal Respiratory Health Research
- EEG and Brain-Computer Interfaces
- Pharmacological Effects and Toxicity Studies
- Neurological diseases and metabolism
- Tuberous Sclerosis Complex Research
- Neuroscience and Neural Engineering
Gifu University
2020-2025
Tobu Ryoiku Center
2021-2024
National Center For Child Health and Development
2014-2023
Saga University
2022-2023
Hokkaido University
2022
University of Tokyo Hospital
2000-2018
Laboratoire de Psychologie du Développement et de L’Education de l’enfant
2018
New York University Press
2016
University of Southampton
2016
Yamaguchi University
2016
A protein with biological activities similar to parathyroid hormone (PTH) has been purified from serum-free culture medium obtained a human lung cancer cell line (BEN). major band of 18 kDa was on NaDodSO4/polyacrylamide gels, faint bands at 35 and 67 kDa. Biological activity associated only the 18-kDa band. Amino acid sequence analysis material by HPLC revealed that 8 16 residues were identical those PTH. Antibody raised corresponding synthetic peptide recognized PTH-related but showed less...
Summary Purpose KCNQ2 mutations have been found in patients with benign familial neonatal seizures, myokymia, or early onset epileptic encephalopathy ( EOEE ). In this study, we aimed to delineate the clinical spectrum of associated mutation. Methods A total 239 , including 51 cases Ohtahara syndrome and 104 West syndrome, were analyzed by high‐resolution melting HRM ) analysis whole‐exome sequencing. Detailed information electroencephalography EEG brain magnetic resonance imaging MRI...
1. The afterhyperpolarization (AHP) that follows action potentials was studied in CA1 hippocampal pyramidal cells from classically conditioned and control rabbits. Measurements of the AHP were obtained with intracellular recordings within slices. 2. rabbit found to be accompanied by a conductance increase. reduced bath applications calcium channel blockers, cadmium cobalt, application cholinergic agonist, carbamylcholine chloride, injection chelator, ethylene glycol-bis(B-aminoethyl...
Intracellular recordings were made from cells located in the longitudinal, inner and outer circular muscle layers of dog, cat, rabbit, opossum human small intestine. In whole‐thickness preparations all five species, longitudinal generated slow waves spikes. However, isolated preparations, tested electrically silent. layer spontaneous spikes superimposed on potentials. occurrence potentials was more regular preparations. which coupled with phasic contractions. silent contractions absent....
Abstract Kabuki syndrome is a congenital anomaly characterized by developmental delay, intellectual disability, specific facial features including long palpebral fissures and ectropion of the lateral third lower eyelids, prominent digit pads, skeletal visceral abnormalities. Mutations in MLL2 KDM6A cause syndrome. We screened 81 individuals with for mutations these genes conventional methods (n = 58) and/or targeted resequencing 45) or whole exome sequencing 5). identified mutation 50...
De novo SCN8A mutations have been reported in patients with epileptic encephalopathy. Herein we report seven de heterozygous mutations, which were found our comprehensive genetic analysis (target capture or whole-exome sequencing) for early onset encephalopathies (EOEEs).A total of 163 EOEEs without known genes, including 6 malignant migrating partial seizures infancy (MMPSI), and 60 unclassified EOEEs, analyzed by target (28 samples) sequencing (135 samples).We identified 7 patients:...
Summary Purpose: De novo STXBP1 mutations have been found in individuals with early infantile epileptic encephalopathy suppression‐burst pattern (EIEE). Our aim was to delineate the clinical spectrum of subjects mutations, and examine their biologic aspects. Methods: analyzed 29 54 cases cryptogenic EIEE West syndrome, respectively, as a second cohort. RNA splicing lymphoblastoid cells from subject harboring c.663 + 5G>A mutation. Expression protein missense examined neuroblastoma2A...
Acute flaccid myelitis (AFM) is an acute paralysis syndrome with spinal motor neuron involvement of unknown etiology. We investigated the characteristics and prognostic factors AFM clusters coincident enterovirus D68 (EV-D68) outbreak in Japan during autumn 2015.
EXamining everolimus In a Study of Tuberous sclerosis 3 (EXIST-3) demonstrated significantly reduced seizure frequency (SF) with vs placebo. this study, we evaluate the long-term efficacy and safety for tuberous complex (TSC)-associated treatment-refractory seizures.After completion core phase, patients could enter an open-label extension phase receive (target exposure, 3-15 ng/mL) ≥48 weeks. Efficacy end points included change from baseline in average weekly SF expressed as response rate...
To examine the efficacy and safety of therapeutic regimen using oral intravenous l-arginine for pediatric adult patients with mitochondrial myopathy, encephalopathy, lactic acidosis, stroke-like episodes (MELAS). In presence absence an ictus within 6 h prior to assessment, we correspondingly conducted systematic administration 15 10 MELAS in two, 2-year, prospective, multicenter clinical trials at medical institutions Japan. Subsequently, were followed up 7 years. The primary endpoint trial...
Objective: Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is a childhood following severe febrile seizures, leaving neurologic sequelae in many patients. However, its pathogenesis remains unclear. In this study, we clarified that genetic variation the adenosine A2A receptor ( ADORA2A ), whose activation involved excitotoxicity, may be predisposing factor of AESD. Methods: We analyzed 4 single nucleotide polymorphisms 85 patients The mRNA expression brain...
<h3>Objective:</h3> To investigate the clinical and epidemiologic features of pediatric acquired demyelinating syndromes (ADS) CNS in Japan. <h3>Methods:</h3> We conducted a nationwide survey collected data on children with ADS aged 15 years or younger, who visited hospitals between 2005 2007. <h3>Results:</h3> Among 977 enrolled, 723 (74.0%) responded to our inquiries reported total 439 patients as follows: 244 acute disseminated encephalomyelitis (ADEM), 117 multiple sclerosis (MS), 14...
Background Cockayne syndrome (CS) is a rare, autosomal recessive multisystem disorder characterised by prenatal or postnatal growth failure, progressive neurological dysfunction, ocular and skeletal abnormalities premature ageing. About half of the patients with symptoms diagnostic for CS show cutaneous photosensitivity an abnormal cellular response to UV light due mutations in either ERCC8 / CSA ERCC6 CSB gene. Studies performed thus far have failed delineate clear genotype-phenotype...
BackgroundEpilepsy and autism spectrum disorder (ASD) are the common neurological manifestations of tuberous sclerosis complex (TSC). EXIST-3 study has recently demonstrated that everolimus reduces seizures in patients with TSC refractory epilepsy. Here we report efficacy safety for treatment-refractory Japanese EXIST-3, along exploratory analysis evaluating effect on comorbid ASD symptoms these patients.MethodsPrimary end point was change seizure frequency from baseline defined as response...
Abstract Although there are many known Mendelian genes linked to epileptic or developmental and encephalopathy (EE/DEE), its genetic architecture is not fully explained. Here, we address this incompleteness by analyzing exomes of 743 EE/DEE cases 2366 controls. We observe that damaging ultra-rare variants (dURVs) unique an individual significantly overrepresented in EE/DEE, both the other non-EE/DEE genes. Importantly, enrichment dURVs significant, even subset with diagnostic ( P =...
This study aimed to reveal how the COVID-19 stay-at-home period has affected quality of life (QOL) children with neurodevelopmental disorders and their parents identify possible factors that enabled them maintain QOL. We enrolled 136 school-aged (intellectual quotient ≥ 50) administered QOL questionnaires assess maladaptive behavior children; depression, anxiety, stress parents; activities daily lives. The relationship between clinical features was examined. decrease in associated mother's...
The aim of this study was to investigate how the thickness masseter muscle relates maxillofacial morphology, including alveolar process in mandibular incisor region, and symphysis.