A5053373310- Epilepsy research and treatment
- Infectious Encephalopathies and Encephalitis
- Neonatal and fetal brain pathology
- Bacterial Infections and Vaccines
- Multiple Sclerosis Research Studies
- Neuroscience and Neuropharmacology Research
- Pharmacological Effects and Toxicity Studies
- Peripheral Neuropathies and Disorders
- Genomics and Rare Diseases
- Free Radicals and Antioxidants
- Genomic variations and chromosomal abnormalities
- Fetal and Pediatric Neurological Disorders
- RNA regulation and disease
- Electron Spin Resonance Studies
- Antioxidant Activity and Oxidative Stress
- Reading and Literacy Development
- Childhood Cancer Survivors' Quality of Life
- Metabolism and Genetic Disorders
- Vascular Malformations and Hemangiomas
- Infant Development and Preterm Care
- Attention Deficit Hyperactivity Disorder
- Cerebrospinal fluid and hydrocephalus
- Influenza Virus Research Studies
- Genetics and Neurodevelopmental Disorders
- Ubiquitin and proteasome pathways
Bridge University
2024
Osaka University of Pharmaceutical Sciences
2022-2024
Tohoku Medical and Pharmaceutical University Hospital
2022
Osaka Medical and Pharmaceutical University
2011-2021
Yokohama City University
2013
Saiseikai Suita Hospital
2008
Midorigaoka Hospital
2003
National Institute of Advanced Industrial Science and Technology
2003
<h3>Objective:</h3> We aimed to investigate the possible association between <i>SCN2A</i> mutations and early-onset epileptic encephalopathies (EOEEs). <h3>Methods:</h3> recruited a total of 328 patients with EOEE, including 67 Ohtahara syndrome (OS) 150 West syndrome. were examined using high resolution melt analysis or whole exome sequencing. <h3>Results:</h3> found 14 novel missense in 15 patients: 9 OS cases (13.4%), 1 (0.67%), 5 111 unclassified EOEEs (4.5%). Twelve confirmed as de...
Abstract We report three heterozygous missense mutations of the skeletal muscle alpha actin gene ( ACTA1 ) in unrelated cases congenital fiber type disproportion (CFTD) from Japan and Australia. This represents first genetic cause CFTD to be identified confirms that is genetically heterogeneous. The we have Leucine221Proline, Aspartate292Valine, Proline332Serine are novel. They not been found previously any nemaline, actin, intranuclear rod, or rod‐core myopathy caused by . It remains...
Fluorogenic probes such as 2',7'-dichlorofluorescin (DCFH) have been extensively used to detect oxidative events and measure antioxidant capacity. At the same time, however, inherent drawbacks of these non-specificity towards oxidizing species pointed out. The present study was carried out analyze action dynamics 4, 4-difluoro-5-(4-phenyl-1,3-butadienyl)-4-bora-3a,4a-diaza-s-indacene-3-undecanoic acid (BODIPY) DCFH a fluorescent probe in free radical-mediated lipid peroxidation homogeneous...
Abstract Heterozygous loss of function mutations CASK at Xp11.4 in females cause severe intellectual disability (ID) and microcephaly with pontine cerebellar hypoplasia (MICPCH). However, the longitudinal clinical radiological course affected patients, including patterns postnatal growth, has not been described. Neurodevelopmental imaging information was retrospectively accrued for 16 Japanese (15 female 1 male) patients ID MICPCH associated mutations. All records were analyzed; patient age...
The leukodystrophies cause severe neurodevelopmental defects from birth and follow an incurable progressive course that often leads to premature death. It has recently been reported abnormalities in aminoacyl t-RNA synthetase (ARS) genes are linked various unique leukoencephalopathies. Aminoacyl proteins fundamentally known as the first enzymes of translation, catalysing conjugation amino acids cognate tRNAs for protein synthesis. is certain have multiple non-canonical roles both...
MED13L haploinsufficiency syndrome is a clinical condition manifesting intellectual disability and developmental delay in association with various complications including congenital heart defects dysmorphic features. Most of the previously reported patients showed de novo loss‐of‐function mutations . Additional three were identified here rare complications. One patient had deletion (c.257delT) T2‐weighted high intensity occipital white matter on magnetic resonance imaging. Two siblings...
Summary The factors that contribute to hippocampal damage as a sequela, and its frequency, in patients experiencing febrile status epilepticus, remain unknown. Of the 472 with seizures admitted our hospital between February 2004 August 2008, 77 had prolonged seizures. Among them, 59 underwent magnetic resonance imaging (MRI). A 21‐month‐old girl showed changes after her first episode of epilepticus. seizure lasted about 35 min, eye deviation right ictal rhythmic discharges left hemisphere....
Abstract We observed a patient with Saethre–Chotzen‐like phenotype severe neurological features. Saethre–Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an autosomal dominant craniosynostosis characterized by craniofacial and mild limb abnormalities. The phenotypic features of chromosomal microdeletions involving the 7p21.1, where twist homolog 1 gene ( TWIST1 ) responsible for SCS located, are recognized as contiguous deletion other manifestations. In this study, we...
Uniparental disomy (UPD) is a rare chromosomal abnormality. We performed whole-exosome sequencing (WES) in cases of early-onset retinal dystrophy and identified two likely caused by UPD. Herein, we report these attempt to clarify the clinical picture dystrophies UPD.WES analysis was for patients their parents, who were not consanguineous. Functional suspected congenital disorders glycosylation (CDG). obtained case data reviewed literature.In 1, novel c.57G>C, p.(Trp19Cys) variant SRD5A3...