about
De Novo mutations in GNAO1, encoding a Gαo subunit of heterotrimeric G proteins, cause epileptic encephalopathyChanges in cerebrospinal fluid biomarkers in human herpesvirus-6-associated acute encephalopathy/febrile seizures.Analysis of a child who developed abnormal neuropsychiatric symptoms after administration of oseltamivir: a case report.A nationwide survey of pediatric acquired demyelinating syndromes in Japan.Central pontine myelinolysis following pediatric living donor liver transplantation: a case report and review of literature.New guidelines for management of febrile seizures in Japan.Cytokine-related and sodium channel polymorphism as candidate predisposing factors for childhood encephalopathy FIRES/AERRPS.Sequential analysis of variable markers for predicting outcomes in pediatric patients with acute liver failure.Specific HLA genotypes confer susceptibility to acute necrotizing encephalopathy.Missense mutations in sodium channel SCN1A and SCN2A predispose children to encephalopathy with severe febrile seizures.Predictive score for early diagnosis of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD).Characterization of SPATA5-related encephalopathy in early childhood.Brain vascular changes in Cockayne syndrome.Mutations of the SCN1A gene in acute encephalopathy.Serum and CSF biomarkers in acute pediatric neurological disorders.Increased right auditory cortex activity in absolute pitch possessors.Beneficial effect of L-arginine for stroke-like episode in MELAS.Magnetoencephalographic analysis of rolandic discharges in a patient with rolandic epilepsy associated with oromotor deficits.A magnetoencephalographic study of negative myoclonus in a patient with atypical benign partial epilepsy.Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation.Steroid-responsive chronic cerebellitis with positive glutamate receptor delta 2 antibody.Detection of copy number variations in epilepsy using exome data.Microarray analysis of 50 patients reveals the critical chromosomal regions responsible for 1p36 deletion syndrome-related complications.Reply to the letter: "The diagnostic value of MRI in pediatric chronic inflammatory demyelinating polyradiculoneuropathy".Characteristic MRI features of chronic inflammatory demyelinating polyradiculoneuropathy.A Simplified Electroencephalogram Monitoring System in the Emergency Room.Clinical and genetic features of acute encephalopathy in children taking theophylline.Comprehensive genetic analyses of PLP1 in patients with Pelizaeus-Merzbacher disease applied by array-CGH and fiber-FISH analyses identified new mutations and variable sizes of duplications.Living-Donor Liver Transplantation From a Heterozygous Parent for Infantile Refsum Disease.Temporary improvement of neurological symptoms with gammaglobulin therapy in a boy with adrenoleukodystrophy.Children are sensitive to averted eyes at the earliest stage of gaze processing.Novel homozygous mutation, c.400C>T (p.Arg134*), in the PVRL1 gene underlies cleft lip/palate-ectodermal dysplasia syndrome in an Asian patient.Canavan disease: clinical features and recent advances in research.Simultaneous measurement of monoamine metabolites and 5-methyltetrahydrofolate in the cerebrospinal fluid of children.Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome.Hereditary sensory and autonomic neuropathy types IV and V in Japan.Early hemispherotomy in a patient with multilobar cortical dysplasia with intractable seizure: clinical-neurophysiological study.People with absolute pitch process tones with producing P300.Leukoencephalopathy associated with 11q24 deletion involving the gene encoding hepatic and glial cell adhesion molecule in two patients.Acute myeloid leukemia-associated DNMT3A p.Arg882His mutation in a patient with Tatton-Brown-Rahman overgrowth syndrome as a constitutional mutation.
P50
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P50
description
researcher
@en
name
M Kubota
@en
M Kubota
@nl
type
label
M Kubota
@en
M Kubota
@nl
prefLabel
M Kubota
@en
M Kubota
@nl
P106
P31
P496
0000-0002-8299-4867