A5083804075- Genetics and Neurodevelopmental Disorders
- Epilepsy research and treatment
- Glycogen Storage Diseases and Myoclonus
- Genomics and Rare Diseases
- Metabolism and Genetic Disorders
- RNA regulation and disease
- Neurogenetic and Muscular Disorders Research
- RNA Research and Splicing
- RNA modifications and cancer
- Hereditary Neurological Disorders
- Lysosomal Storage Disorders Research
- Mitochondrial Function and Pathology
- Neuroscience and Neuropharmacology Research
- Infectious Encephalopathies and Encephalitis
- Diet and metabolism studies
- Respiratory viral infections research
- Epigenetics and DNA Methylation
- Parkinson's Disease and Spinal Disorders
- Neonatal and fetal brain pathology
- Fetal and Pediatric Neurological Disorders
- Neurological disorders and treatments
- Advanced MRI Techniques and Applications
- Myasthenia Gravis and Thymoma
- Peripheral Neuropathies and Disorders
- Trace Elements in Health
Miyagi Children's Hospital
2015-2024
Tohoku University
2001-2018
Boston Children's Hospital
2014
Sapporo Medical University
2000
Toho University
1995
Summary KCNT 1 mutations have been found in epilepsy of infancy with migrating focal seizures ( EIMFS ; also known as partial infancy), autosomal dominant nocturnal frontal lobe epilepsy, and other types early onset epileptic encephalopathies EOEE s). We performed ‐targeted next‐generation sequencing (207 samples) and/or whole‐exome (229 a total 362 patients Ohtahara syndrome, West , or unclassified s. identified nine heterozygous 11 patients: 18 cases (50%) whom foci were observed, one 180...
Abstract Objective Cerebral palsy is a common, heterogeneous neurodevelopmental disorder that causes movement and postural disabilities. Recent studies have suggested genetic diseases can be misdiagnosed as cerebral palsy. We hypothesized two simple criteria, is, full‐term births nonspecific brain MRI findings, are keys to extracting masqueraders among cases due the following: (1) preterm infants susceptible multiple environmental factors therefore demonstrate an increased risk of (2)...
The aim of this study was to compare the effects an angiotensin-converting enzyme (ACE) inhibitor and angiotensin II receptor (AT) antagonist on insulin resistance, especially muscle fiber composition in fructose-induced insulin-resistant hypertensive rats. Six-week-old male Sprague-Dawley rats were fed either normal rat chow (control) or a fructose-rich diet (FFR). For last two weeks six-week period diet, treated with gum arabic solution as vehicle (control FFR), (FFR+ACE), temocapril (1...
Variants in the type IV collagen gene (COL4A1/2) cause early-onset cerebrovascular diseases. Most individuals are diagnosed postnatally, and prenatal features of with COL4A1/2 variants remain unclear.We examined 218 suspected COL4A1/2-related brain defects. Among those arising from variants, we focused on showing abnormal ultrasound findings validated their postnatal clinical detail.Pathogenic were detected 56 (n=56/218, 25.7%) porencephaly (n=29), schizencephaly (n=12) others (n=15)....
Cerebellar ataxia, mental retardation, and disequilibrium syndrome 4 (CAMRQ4) is early onset neuromotor disorder intellectual disabilities caused by variants of ATP8A2. We report sibling cases systematically analyze previous literature to increase our understanding CAMRQ4. Japanese siblings presented with athetotic movements at 1 2 months age. They also had ptosis, ophthalmoplegia, feeding difficulty, hypotonia, severely delayed development. One patient retinal degeneration optic atrophy....
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare leukoencephalopathy presenting in infantile period characterized by diffuse cerebral hypomyelination, cerebellum. As patients H-ABC lack remarkable laboratory findings, diagnosis based on brain magnetic resonance imaging findings alone. Only eight cases have been reported literature, thus natural course treatment this disease are not fully understood. We report 35-month-old boy who had hemidystonia, cerebellar...
Currently, various formulas with different fatty acid compositions are used for enteral nutrition (EN). All contain concentrations of essential acids: linoleic (LA) and alpha-linolenic (ALA); LA is biotransformed into arachidonic (AA) ALA eicosapentaenoic (EPA) docosahexaenoic (DHA) in vivo. Some preformed EPA DHA. However, the effects differences composition on status patients receiving long-term EN not clear. We measured serum 50 neurological diseases EN. The data were then compared...
We have successfully eliminated herpes simplex virus-2 from the central nervous system in a case of neonatal virus encephalitis with continuous acyclovir infusion. A male infant delivered healthy 22-year-old woman without genital or systemic symptoms around delivery began to develop fever and intractable seizures. He was started on intermittent intravenous (20 mg/kg every 8 h) based diagnosis encephalitis. The not vidarabine, while ultimately effective eliminating his system. This report...