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Genomes and GenesSpecies | Mitsubiro KatoSummaryAffiliation: Yamagata University Country: Japan Publications
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[Topics of brain malformation and epilepsy--age-dependent epileptic encephalopathies and interneuronopathies]Mitsubiro Kato
Department of Pediatrics, Yamagata University Faculty of Medicine, Yamagata
No To Hattatsu 42:333-8. 2010..Molecular studies of the diseases will reveal the relationships between the structure and function of the brain. It is indispensable to clarify the etiology of hereditary diseases and identify new approaches to treatment...
Frameshift mutations of the ARX gene in familial Ohtahara syndromeMitushiro Kato
Department of Pediatrics, Yamagata University Faculty of Medicine, Iida Nishi, Yamagata, Japan
Epilepsia 51:1679-84. 2010..Both are designated as ARX-related interneuronopathies...
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome)Mitsuhiro Kato
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, and Nishi Niigata Chuo National Hospital, Niigata, Japan
Am J Hum Genet 81:361-6. 2007..Our observation that EIEE had a longer expansion of the polyalanine tract than is seen in West syndrome is consistent with the findings of earlier onset and more-severe phenotypes in EIEE than in West syndrome...- A new paradigm for West syndrome based on molecular and cell biologyMitsuhiro Kato
Department of Pediatrics, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
Epilepsy Res 70:S87-95. 2006..Abnormal interneurons appear to play an essential role in the pathogenesis of West syndrome or infantile spasms, which can be considered an interneuronopathy... - X-linked lissencephaly with abnormal genitalia as a tangential migration disorder causing intractable epilepsy: proposal for a new term, "interneuronopathy"Mitsuhiro Kato
Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan
J Child Neurol 20:392-7. 2005..We propose "interneuronopathy" as a term for this... - A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopiaM Kato
Department of Pediatrics, Yamagata University School of Medicine, Japan
Hum Genet 104:341-4. 1999..Although the number of cases studied remains limited, exon 5 may be a common mutational site in Japanese patients in contrast to many previous reports concerning exons 2 and 3... - Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysisM Kato
Department of Pediatrics, Yamagata University School of Medicine, Japan
Ann Neurol 50:547-51. 2001..We conclude that somatic mosaic mutations in the doublecortin gene in male patients can cause subcortical band heterotopia, and that molecular analysis using hair roots is a useful method for detecting somatic mosaicism... - Severe hypoglycaemia in a patient with glycogen storage disease type III induced by infectious mononucleosisT Kimura
Department of Pediatrics, Yamagata University School of Medicine, Japan
J Inherit Metab Dis 24:873-4. 2001..Severe metabolic damage probably reflected a rapid breakdown of liver cells induced by the viral infection... - Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1T Ikegami
Department of Pediatrics, Yamagata University School of Medicine, Japan
Am J Med Genet 80:352-5. 1998..Therefore, molecular analysis is useful for molecular pathology of their disease... - Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenitaJ Nakae
Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
J Clin Endocrinol Metab 81:3680-5. 1996..Our results suggest that these 5 novel mutations are responsible for X-linked AHC and that the C-terminus of the DAX-1 protein, especially the terminal 11 amino acids, is necessary for normal adrenal cortical embryogenesis... - Loss of doublecortin in heterotopic gray matter of a fetus with subcortical laminar heterotopiaM Mizuguchi
Department of Pediatrics, Jichi Medical School, Kawachi-gun, Tochigi, Japan
Neurology 59:143-4. 2002 - Prader-Willi syndrome in a child with XYYA Honma
Department of Pediatrics, Yamagata Medical Rehabilitation Center for Disabled Persons, Japan
J Hum Genet 44:412-3. 1999.... - Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathyJ Takanashi
Department of Pediatrics, Kameda Medical Center, Kamogawa, Japan
Neurology 66:1304-9; discussion 1291. 2006..Patients with encephalopathy heralded by a prolonged seizure as the initial symptom often have abnormal subcortical white matter on diffusion-weighted MRI (DWI)... - Effect of eradication of Helicobacter pylori on incidence of metachronous gastric carcinoma after endoscopic resection of early gastric cancer: an open-label, randomised controlled trialKazutoshi Fukase
Department of Gastroenterology, Yamagata Prefectural Central Hospital, Yamagata, Japan
Lancet 372:392-7. 2008..Our aim was to investigate the prophylactic effect of H pylori eradication on the development of metachronous gastric carcinoma after endoscopic resection for early gastric cancer... - Megalencephaly and polymicrogyria with polydactyly syndromeJun Tohyama
Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, and Department of Neurosurgery, Brain Research Institute, Niigata University, Japan
Pediatr Neurol 37:148-51. 2007..Visual disturbance due to white matter abnormality appears to represent a significant characteristic of this syndrome. The genetic background of the syndrome remains unclear... - Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matterJun Tohyama
Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, 1 14 1 Masago, Nishi ku, Niigata City, Niigata 950 2085, Japan
Brain Dev 30:349-55. 2008..The findings observed in our patients can be regarded as a new clinical condition associated with early onset West syndrome... - Progressive sliding hiatal hernia as a complication of Menkes' syndromeTakashi Shiihara
Department of Pediatrics, Yamagata University School of Medicine, Japan
J Child Neurol 17:401-2. 2002..Sliding hiatal hernia is probably one of the connective tissue manifestations and should be carefully evaluated in patients with Menkes' syndrome demonstrating recurrent gastrointestinal and/or respiratory symptoms... - Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humansKunio Kitamura
Mitsubishi Kagaku Institute of Life Sciences, 11 Minamiooya, Machida, Tokyo 194 8511, Japan
Nat Genet 32:359-69. 2002..The present report is, to our knowledge, the first to use phenotypic analysis of a knockout mouse to identify a gene associated with an X-linked human brain malformation... - Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAPTakashi Shiihara
Department of Pediatrics, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
J Neurol Sci 225:125-7. 2004..To elucidate the genotype-phenotype correlation in Alexander's disease, molecular diagnosis and MRI examination are required for many patients and their families... - Fluctuation of computed tomographic findings in white matter in Alexander's diseaseTakashi Shiihara
Department of Pediatrics, Yamagata University School of Medicine, Japan
J Child Neurol 17:227-30. 2002..Fluctuation of CT findings in white matter may reflect blood-brain barrier dysfunction in Alexander's disease... - Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlationMitsuhiro Kato
Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
Hum Mutat 23:147-59. 2004.... - Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndromeTakashi Shiihara
Department of Pediatrics, Yamagata University School of Medicine, Japan
J Child Neurol 18:147-9. 2003..We propose that our patients may be affected with a mild form of Galloway-Mowat syndrome or another autosomal recessive syndrome with focal segmental glomerulosclerosis and central nervous system abnormalities... - Lissencephaly and the molecular basis of neuronal migrationMitsuhiro Kato
Department of Human Genetics, The University of Chicago, Chicago, IL 60637, USA
Hum Mol Genet 12:R89-96. 2003..We also hypothesize, for the first time, a relationship between the specific type of lissencephaly observed and deficiency of specific modes of neuronal migration... - De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathyHirotomo Saitsu
Department of Human Genetics, Yokohama City University Graduate School of Medicine, 3 9 Fukuura, Kanazawa Ku, Yokohama 236 0004, Japan
Nat Genet 40:782-8. 2008..Furthermore, binding of the mutant protein to syntaxin was impaired. These findings suggest that haploinsufficiency of STXBP1 causes EIEE... - A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese familyKyoko Takano
Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
Am J Med Genet B Neuropsychiatr Genet 147:479-84. 2008..Our study also suggested that the FTSJ1 mutation probably accounts for XLMR in Japanese at a similar frequency (1-2%) as in Europeans... - Contrast sensitivity of patients with severe motor and intellectual disabilities and cerebral visual impairmentShinya Sakai
Division of Neuropsychology, Department of Disability Medicine, Tohoku University Graduate School of Medicine, Sendai, Japan
J Child Neurol 17:731-7. 2002..We conclude that the residual visual capacities of patients with severe motor and intellectual disabilities and cerebral visual impairment can be measured fairly accurately by these behavioral methods... - Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 geneShozo Honda
Department of Molecular Cytogenetics, Medical Research Institute and Graduate School of Biomedical Science, Tokyo Medical and Dental University, Tokyo, Japan
Am J Med Genet A 143:687-93. 2007..We compared phenotypes of Patient 2 with those of MPS II cases with deletion of the IDS gene alone reported previously, suggesting that the early-onset MR might be affected by the additional deletion of FMR2... - Acute encephalopathy with refractory status epilepticus: bilateral mesial temporal and claustral lesions, associated with a peripheral marker of oxidative DNA damageTakashi Shiihara
Department of Pediatrics, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
J Neurol Sci 250:159-61. 2006..Serial measurements of oxidative stress markers in acute encephalitis, encephalopathy, or status epilepticus could clarify the relationships between acute brain damage and free radicals... - Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsyTakanori Kamimura
Department of Homeostatic Regulation and Development, Niigata Graduate School of Medical and Dental Sciences, and Department of Pediatric Neurology, Epilepsy Center, Nishi-Niigata Chuo National Hospital, Niigata, Japan
Epilepsia 47:991-7. 2006..TS patients showing a single ECD cluster on MEG may be appropriate candidates for surgical treatment... - No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patientsNoriko Miyake
Am J Med Genet A 140:291-3. 2006 - Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomyTakashi Shiihara
Am J Med Genet A 128:214-6. 2004 - BAC array CGH reveals genomic aberrations in idiopathic mental retardationNoriko Miyake
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan
Am J Med Genet A 140:205-11. 2006..The constructed array was shown to be an efficient tool for the detection of pathogenic genomic rearrangements in MR patients as well as copy number polymorphisms (CPNs)...