Mitsugu Uematsu

Mitsugu Uematsu

Department Of Pediatrics, Tohoku University School Of Medicine, Sendai, Japan. Electronic Address:

Direct Impact

Concepts for which Mitsugu Uematsu has direct influence:

west syndrome
corpus callosotomy
white matter
abdominal migraine
muscular dystrophy
milder form
acute encephalopathy

External impact

Concepts related to the work of other authors for which Mitsugu Uematsu has influence:

acute encephalopathy
ki-67 labeling
bi-allelic hpdl
reverse speech
valproate sodium
prophylactic therapy
spastic paraplegia

Prominent publications by Mitsugu Uematsu

KOL-Index: 146 Biallelic 4-hydroxyphenylpyruvate dioxygenase-like protein (HPDL) variants were recently reported as a cause of progressive and incurable neurodegenerative diseases ranging from neonatal-onset leukoencephalopathy with severe neurodevelopmental delay to spastic paraplegia. Although the physiological function of HPDL remains unknown, its subcellular localization in the mitochondria has been ...
Known for
Biallelic | Ketogenic | Reported Hpdl
KOL-Index: 33 Objective: Accurate estimation of the epileptogenic zone (EZ) is essential for favorable outcomes in epilepsy surgery. Conventional ictal electrocorticography (ECoG) onset is generally used to detect the EZ but is insufficient in achieving seizure-free outcomes. By contrast, high-frequency oscillations (HFOs) could be useful markers of the EZ. Hence, we aimed to detect the EZ using ...
Known for
Area Interictal | Ripples Facilitate | Onset Frequencies | Resection Surgery
KOL-Index: 29 Isolated 3-methylcrotonyl-CoA carboxylase (MCC) deficiency appears to be the most frequent organic aciduria detected in tandem mass spectrometry (MS/MS) screening programs in the United States, Australia, and Europe. A pilot study of newborn screening using MS/MS has recently been commenced in Japan. Our group detected two asymptomatic MCC deficiency patients by the pilot screening and ...
Known for
Frameshift Missense | Severe Neurological Impairment | Isolated 3-Methylcrotonyl-Coa Carboxylase Mcc | Newborn Screening
KOL-Index: 25 West syndrome, which is narrowly defined as infantile spasms that occur in clusters and hypsarrhythmia on EEG, is the most common early-onset epileptic encephalopathy (EOEE). Patients with West syndrome may have clear etiologies, including perinatal events, infections, gross chromosomal abnormalities, or cases followed by other EOEEs. However, the genetic etiology of most cases of West ...
Known for
67 Eoee Genes | Sequencing Identified | 14 Unsolved Families | Candidate Pathogenic Copy Number
KOL-Index: 25 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 ...
Known for
Scn1a Promoter | Alphai | Heterozygous Microdeletions | Genomic Region
KOL-Index: 24 Molybdenum cofactor deficiency (MoCD) is an autosomal recessive inborn error of metabolism that results from mutations in genes involved in molybdenum cofactor (Moco) biosynthesis. MoCD is characterized clinically by intractable seizures and severe, rapidly progressing neurodegeneration leading to death in early childhood in the majority of known cases. We report on a patient with an unusual ...
Known for
Cofactor Deficiency | Urine Sulfite Test | Remarkably Serum
KOL-Index: 23 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 ...
Known for
Direct Sequencing | Renal Proximal Tubules | Nonsense Mutation | Early Neonatal Period
KOL-Index: 23 Childhood cerebral ALD is a rapidly progressive and neurodegenerative disorder for which HSCT is the curative therapy if carried out at early stages. We successfully treated two patients of childhood cerebral ALD by CBT with RIC. The proband was a seven-yr-old boy whose brain MRI severity score (Loes score) was 14.5. Unrelated CBT was performed in five wk. To minimize conditioning ...
Known for
Six-Yr-Old Brother | Gadolinium-Enhanced Inflammation | Stages Early | Single Small Lesion
KOL-Index: 22 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 ...
Known for
Achieved Seizure | Focal Electroencephalographic Abnormalities | Onset Epilepsy | Remission Corpus
KOL-Index: 22 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 ...
Known for
Exogenous Expression | Mitochondrial Translation | Protein Pnpase | Abnormal Myelination

Department of Pediatrics, Tohoku University School of Medicine, Sendai, Japan. Electronic address:

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