A5005217388- Epilepsy research and treatment
- Genetics and Neurodevelopmental Disorders
- Infectious Encephalopathies and Encephalitis
- Pharmacological Effects and Toxicity Studies
- RNA regulation and disease
- Metabolism and Genetic Disorders
- Neonatal and fetal brain pathology
- Mitochondrial Function and Pathology
- Glycogen Storage Diseases and Myoclonus
- Migraine and Headache Studies
- Genomics and Rare Diseases
- Cerebrospinal fluid and hydrocephalus
- Tuberous Sclerosis Complex Research
- RNA modifications and cancer
- Genomic variations and chromosomal abnormalities
- Multiple Sclerosis Research Studies
- Neurological disorders and treatments
- Peripheral Neuropathies and Disorders
- Fetal and Pediatric Neurological Disorders
- Autoimmune Neurological Disorders and Treatments
- RNA and protein synthesis mechanisms
- Neuroscience and Neuropharmacology Research
- Functional Brain Connectivity Studies
- Trigeminal Neuralgia and Treatments
- Adenosine and Purinergic Signaling
Pediatrics and Genetics
2012-2025
Tohoku University
2015-2024
Tohoku Medical Megabank Organization
2017
First Affiliated Hospital of Xi'an Jiaotong University
2017
Tohoku University Hospital
2012-2017
Wayne State University
2013
Children's Hospital of Michigan
2013
Sendai City Hospital
2012
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.
Summary Objective Recently, de novo mutations in GRIN 1 have been identified patients with nonsyndromic intellectual disability and epileptic encephalopathy. Whole exome sequencing ( WES ) analysis of genetically unsolved encephalopathies four mutations, allowing us to investigate the phenotypic spectrum mutations. Methods Eighty‐eight unclassified early onset (EOEEs) an age <1 year were analyzed by . The effect on N ‐methyl‐ d ‐aspartate (NMDA) receptors was examined mapping altered...
Summary Purpose: The occurrence of acute encephalopathy in children with Dravet syndrome has been reported sporadically. This study clarified the features syndrome. Methods: Through mailing list Annual Zao Conference on Pediatric Neurology, we collected 15 patients clinically diagnosed syndrome, who had encephalopathy, defined as a condition decreased consciousness or without other neurologic symptoms, such seizures, lasting for >24 h association infectious symptoms. Key Findings: There...
Mitochondrial dysfunction increases oxidative stress and depletes ATP in a variety of disorders. Several antioxidant therapies drugs affecting mitochondrial biogenesis are undergoing investigation, although not all them have demonstrated favorable effects the clinic. We recently reported therapeutic drug mitochonic acid MA-5 (Tohoku J. Exp. Med., 2015). increased ATP, rescued disease fibroblasts prolonged life span model "Mitomouse" (JASN, 2016). To investigate potential on various diseases,...
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sometimes triggers encephalopathy as a serious neurological complication in children. We previously reported the clinico-radiological findings of SARS-CoV-2-associated encephalopathy. The advent SARS-CoV-2 omicron variant led to marked increase pediatric patients with disease 2019 (COVID-19); however, epidemiological changes according emergence have not yet been documented. Therefore, present study investigated differences during...
Mutations involving the voltage-gated sodium channel αI gene SCN1A are major genetic causes of childhood epileptic disorders, as typified by Dravet syndrome. Here we investigated upstream regions 5′ noncoding exons and found two with promoter activity. These promoters were simultaneously active in various brain most neurons. Using multiplex ligation-dependent probe amplification (MLPA) assays probes for exons, their regions, all coding SCN1A, 130 patients who did not show any mutations...
Object Corpus callosotomy is usually intended to alleviate—not achieve total control of—epileptic seizures. A few patients experience complete seizure after callosotomy, but the associated clinical factors are unknown. The object of this study was investigate with long-term remission corpus in infantile or early childhood onset epilepsy. Methods Thirteen consecutive epilepsy underwent 1-stage for alleviation Their age at surgery ranged from 1 year and 5 months 24 years (median 7 years)....
OBJECTIVE Surgery for peri-rolandic epilepsy requires appropriate consideration to balance the functional risk of postoperative motor deficit and seizure outcome. Based on voxel-based morphometric analysis, authors hypothesized that cortical damage ischemic subcortical related surgery could affect deterioration. METHODS Sixteen patients with who underwent resective at a single institution were retrospectively investigated. Their imaging findings, outcomes, neurological deteriorations in...
Recent studies suggest that impaired transcription or mitochondrial translation of small RNAs can cause abnormal myelination. A polynucleotide phosphorylase (PNPase) encoded by PNPT1 facilitates the import into mitochondria. mutations have been reported in patients with neurodevelopmental diseases dysfunction. We report here 2 siblings who presented delayed myelination as well identified compound heterozygous (c.227G>A; p.Gly76Asp and c.574C>T; p.Arg192*) quartet whole-exome sequencing....
We successfully treated 2 pediatric cases of abdominal pain-related functional gastrointestinal disorder with sumatriptan. When 9 years old, patient 1 developed periodic pain that was intractable to medication and remitted spontaneously. She diagnosed migraine, categorized as H2c in the Rome III criteria for disorders. At age 12, intranasal sumatriptan relieved her pain, attacks halted later. Patient a 9-year-old girl attention-deficit hyperactivity (ADHD), who began have intermittent...