 | Mitsugu Uematsu |
Prominent publications by Mitsugu Uematsu
GRIN1 mutations cause encephalopathy with infantile‐onset epilepsy, and hyperkinetic and stereotyped movement disorders
[ PUBLICATION ]
OBJECTIVE: Recently, de novo mutations in GRIN1 have been identified in patients with nonsyndromic intellectual disability and epileptic encephalopathy. Whole exome sequencing (WES) analysis of patients with genetically unsolved epileptic encephalopathies identified four patients with GRIN1 mutations, allowing us to investigate the phenotypic spectrum of GRIN1 mutations.
METHODS: Eighty-eight patients with unclassified early onset epileptic encephalopathies (EOEEs) with an age of onset ...
| Known for Grin1 Mutations | Movement Disorders | Patients Epileptic Encephalopathy | Intellectual Disability | Phenotypic Spectrum |
PURPOSE: The occurrence of acute encephalopathy in children with Dravet syndrome has been reported sporadically. This study clarified the features of acute encephalopathy in children with Dravet syndrome.
METHODS: Through the mailing list of the Annual Zao Conference on Pediatric Neurology, we collected 15 patients with clinically diagnosed Dravet syndrome, who had acute encephalopathy, defined as a condition with decreased consciousness with or without other neurologic symptoms, such as ...
| Known for Acute Encephalopathy | Dravet Syndrome | Status Epilepticus | Scn1a Gene | Poor Outcome |
OBJECT: Corpus callosotomy is usually intended to alleviate-not to achieve total control of-epileptic seizures. A few patients experience complete seizure control after callosotomy, but the associated clinical factors are unknown. The object of this study was to investigate clinical factors associated with long-term seizure remission after total corpus callosotomy in patients with infantile or early childhood onset epilepsy.
METHODS: Thirteen consecutive patients with infantile or early ...
| Known for Corpus Callosotomy | Age Surgery | West Syndrome | 4 Patients | Onset Child Child |
To investigate the role of the muscular renin-angiotensin system (RAS) in human muscular dystrophy, we used immunohistochemistry and Western blotting to examine the cellular localization of angiotensin-converting enzyme (ACE), the angiotensin II type 1 receptor (AT1) and the angiotensin II type 2 receptor (AT2) in muscle biopsies from patients with Duchenne muscular dystrophy (DMD), Becker muscular dystrophy (BMD), and congenital muscular dystrophy (CMD). In normal muscle, ACE was ...
| Known for Dystrophic Muscle | Muscular Dystrophy | Western Blotting | Angiotensin Type | At1 At2 |
Mutations involving the voltage-gated sodium channel alpha(I) gene SCN1A are major genetic causes of childhood epileptic disorders, as typified by Dravet syndrome. Here we investigated the upstream regions of the SCN1A 5' noncoding exons and found two major regions with promoter activity. These two major promoters were simultaneously active in various brain regions and in most neurons. Using multiplex ligation-dependent probe amplification (MLPA) assays with probes for the 5' noncoding ...
| Known for Promoter Activity | Dravet Syndrome | Genomic Region | Coding Exons | Situ Hybridization |
BACKGROUND: Myelin-oligodendrocyte glycoprotein and aquaporin-4 have been extensively analyzed as targets for humoral immune reactions in central nervous system (CNS) demyelinating diseases, and the results indicated a possible role of these antibodies in the pathogenesis of various demyelinating diseases.
OBJECTIVE: To investigate the antibody titer levels against myelin-oligodendrocyte glycoprotein and aquaporin-4 in pediatric patients with inflammatory CNS disorders, and to evaluate ...
| Known for Oligodendrocyte Glycoprotein | Japanese Children | Central Nervous | Demyelinating Diseases | Anti Myelin |
Pyridoxal 5′-phosphate and related metabolites in hypophosphatasia: Effects of enzyme replacement therapy
[ PUBLICATION ]
OBJECTIVE: To investigate the utility of serum pyridoxal 5'-phosphate (PLP), pyridoxal (PL), and 4-pyridoxic acid (PA) as a diagnostic marker of hypophosphatasia (HPP) and an indicator of the effect of, and patient compliance with, enzyme replacement therapy (ERT), we measured PLP, PL, and PA concentrations in serum samples from HPP patients with and without ERT.
METHODS: Blood samples were collected from HPP patients and serum was frozen as soon as possible (mostly within one hour). ...
| Known for Enzyme Replacement Therapy | Hypophosphatasia Hpp | Alp Activity | Alkaline Phosphatase | Liquid Chromatography |
A case surviving for over a year of renal tubular dysgenesis with compound heterozygous angiotensinogen gene mutations
[ PUBLICATION ]
Renal tubular dysgenesis (RTD) is a developmental abnormality of the renal proximal tubules found in patients with Potter syndrome. We report a female newborn with RTD who has survived for more than 18 months. Infusions of fresh frozen plasma (FFP) in the early neonatal period were effective in raising and maintaining her blood pressure. Peritoneal dialysis was required until the appearance of spontaneous urination at 29 days after birth. Histopathological examinations of the kidney ...
| Known for Renal Tubular Dysgenesis | Angiotensinogen Gene | Newborn Kidney Tubules | Nonsense Mutation | Frameshift Deletion |
Asymptomatic congenital cytomegalovirus infection with neurological sequelae: A retrospective study using umbilical cord
[ PUBLICATION ]
BACKGROUND: Congenital cytomegalovirus (CMV) infection causes various neurological sequelae. However, most infected infants are asymptomatic at birth, and retrospective diagnosis is difficult beyond the neonatal period.
OBJECTIVE: This study aimed to investigate the aspects of neurological sequelae associated with asymptomatic congenital CMV infection.
METHODS: We retrospectively analyzed 182 patients who were suspected of having asymptomatic congenital CMV infection with neurological ...
| Known for Congenital Cytomegalovirus | Umbilical Cord | Cmv Infection | Neurological Sequelae | Retrospective Diagnosis |
To investigate the role of tissue inhibitors of metalloproteinases (TIMPs) in muscular dystrophy, we examined the expression of TIMP-1 using plasma and biopsied muscle from patients with various muscular dystrophies by ELISA, immunohistochemistry, and Western blot analysis. TIMP-1 immunolocalization was also studied in mouse models of muscular dystrophy. Plasma TIMP-1 was elevated and correlated with TGF-β1 in Duchenne muscular dystrophy (DMD) and congenital muscular dystrophy (CMD), but ...
| Known for Muscular Dystrophy | Tissue Inhibitors | Skeletal Muscle | Preschool Disease Models | Inhibitor Metalloproteinase1 |
Human occipital cortices differentially exert saccadic suppression: Intracranial recording in children
[ PUBLICATION ]
By repeating saccades unconsciously, humans explore the surrounding world every day. Saccades inevitably move external visual images across the retina at high velocity; nonetheless, healthy humans don't perceive transient blurring of the visual scene during saccades. This perceptual stability is referred to as saccadic suppression. Functional suppression is believed to take place transiently in the visual systems, but it remains unknown how commonly or differentially the human occipital ...
| Known for Saccadic Suppression | Intracranial Recording | Rem Sleep | Primary Visual Cortex | Occipital Gamma |
Reduced levels of interleukin-1 receptor antagonist in the cerebrospinal fluid in patients with West syndrome
[ PUBLICATION ]
We measured the levels of pro- and anti-inflammatory cytokines in the cerebrospinal fluid (CSF) of 24 patients with West syndrome to clarify whether inflammatory cytokines were involved in the pathophysiology of West syndrome. There was no significant elevation of any of the three pro-inflammatory cytokines, interleukin (IL)-1beta, IL-6, and tumor necrosis factor-alpha, in patients with West syndrome as compared with those in controls. However, level of anti-inflammatory cytokine, IL-1 ...
| Known for West Syndrome | Receptor Antagonist | Cerebrospinal Fluid | Infant Interleukin | Inflammatory Cytokines |
BACKGROUND: Adrenocorticotropic hormone (ACTH) therapy is the first-line therapy for infantile spasms, and is effective for many other intractable epilepsies. While spasms may respond to ACTH for weeks, a substantial proportion of patients develop recurrent seizures over a yearly period. To maintain efficacy, we treated two children with intractable epilepsy with weekly ACTH therapy for 1 year and described the changes in clinical seizures, electroencephalograms, developmental ...
| Known for Acth Therapy | Infantile Spasms | Term Weekly | Adrenocorticotropic Hormone | Antiepileptic Drugs |
Two cases of early-onset myoclonic seizures with continuous parietal delta activity caused by EEF1A2 mutations
[ PUBLICATION ]
BACKGROUND: Mutations in the elongation factor 1 alpha 2 (EEF1A2) gene have recently been shown to cause severe intellectual disability with early-onset epilepsy. The specific manifestations of mutations in this gene remain unknown.
CASE REPORT: We report two cases of severe intellectual disability accompanied by early-onset epilepsy with continuous delta activity evident on electroencephalography. Both cases presented with developmental delay and repetitive myoclonic seizures in early ...
| Known for Eef1a2 Mutation | Myoclonic Seizures | Severe Intellectual Disability | Exome Sequencing | Epileptic Encephalopathy |
Novel biallelic mutations in the PNPT1 gene encoding a mitochondrial‐RNA‐import protein PNPase cause delayed myelination
[ PUBLICATION ]
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 of small RNAs into mitochondria. PNPT1 mutations have been reported in patients with neurodevelopmental diseases with mitochondrial dysfunction. We report here 2 siblings with PNPT1 mutations who presented delayed myelination as well as mitochondrial dysfunction. We identified compound ...
| Known for Delayed Myelination | Mitochondrial Dysfunction | Small Rnas | Polynucleotide Phosphorylase | Exome Sequencing |
Mitsugu Uematsu: Influence Statistics
| Concept | World rank |
|---|---|
| stereotypical hand movement | #2 |
| trigeminal nerve reports | #3 |
| nmo therapeutic approaches | #3 |
| ictal ecog patterns | #3 |
| pediatric ish population | #3 |
| child optic neuritis | #3 |
| rare extracephalic | #3 |
| pains division | #3 |
| mliv differential | #3 |
| extracephalic symptoms | #3 |
| intractable hiccups nausea | #3 |
| interictal spikerelated hfos | #3 |
| interictal spikerelated ripples | #3 |
| c410tc | #3 |
| nmo intractable hiccups | #3 |
| nephron minimally | #3 |
| accompanying ish | #3 |
| visual bodily distortions | #3 |
| migraine extracephalic symptoms | #3 |
| case lower pain | #3 |
| lower pain migraine | #3 |
| pleu137pro | #3 |
| thalami hypothalamus | #3 |
| c802803delag | #3 |
| female rtd | #3 |
| ish migraine | #3 |
| suv segments | #3 |
| ictal onset channels | #3 |
| dysgenesis glomerular | #3 |
| omim605248 | #3 |
| central dysfunction case | #3 |
| pediatric ish | #3 |
| investigations ish | #3 |
| rare extracephalic pain | #3 |
| tubule patient | #3 |
| method onset channels | #3 |
| myelitis nausea | #3 |
| pediatric ish case | #3 |
| 12 serial patients | #3 |
| unexplained hypomyelination | #3 |
| schema experimental approach | #3 |
| ras rtd | #3 |
| nausea optic | #3 |
| mri highintensity areas | #3 |
| diagnosed hypomyelinating | #3 |
| buttocks pain attack | #3 |
| pain male migraine | #3 |
| nausea brain imaging | #3 |
| pain ish | #3 |
| infants hypomyelinating | #3 |
Key People For West Syndrome
Mitsugu Uematsu:Expert Impact
Concepts for whichMitsugu Uematsuhas direct influence:West syndrome, Corpus callosotomy, Abdominal migraine, Ataxia telangiectasia, Dravet syndrome, Renal tubular dysgenesis, Intractable epilepsy, Leigh syndrome.
Mitsugu Uematsu:KOL impact
Concepts related to the work of other authors for whichfor which Mitsugu Uematsu has influence:Dravet syndrome, Corpus callosotomy, Infantile spasms, Acute encephalopathy, Intellectual disability, Status epilepticus, Abdominal migraine.
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