Mitsubiro Kato

Summary

Affiliation: Yamagata University
Country: Japan

Publications

  1. ncbi [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
  2. doi Frameshift mutations of the ARX gene in familial Ohtahara syndrome
    Mitushiro Kato
    Department of Pediatrics, Yamagata University Faculty of Medicine, Iida Nishi, Yamagata, Japan
    Epilepsia 51:1679-84. 2010
  3. pmc 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
  4. ncbi A new paradigm for West syndrome based on molecular and cell biology
    Mitsuhiro Kato
    Department of Pediatrics, Yamagata University School of Medicine, 2 2 2 Iida nishi, Yamagata 990 9585, Japan
    Epilepsy Res 70:S87-95. 2006
  5. ncbi 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
  6. ncbi A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia
    M Kato
    Department of Pediatrics, Yamagata University School of Medicine, Japan
    Hum Genet 104:341-4. 1999
  7. ncbi Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis
    M Kato
    Department of Pediatrics, Yamagata University School of Medicine, Japan
    Ann Neurol 50:547-51. 2001
  8. ncbi Severe hypoglycaemia in a patient with glycogen storage disease type III induced by infectious mononucleosis
    T Kimura
    Department of Pediatrics, Yamagata University School of Medicine, Japan
    J Inherit Metab Dis 24:873-4. 2001
  9. ncbi Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1
    T Ikegami
    Department of Pediatrics, Yamagata University School of Medicine, Japan
    Am J Med Genet 80:352-5. 1998
  10. ncbi Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita
    J Nakae
    Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan
    J Clin Endocrinol Metab 81:3680-5. 1996

Detail Information

Publications32

  1. ncbi [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...
  2. doi Frameshift mutations of the ARX gene in familial Ohtahara syndrome
    Mitushiro 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...
  3. pmc 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...
  4. ncbi A new paradigm for West syndrome based on molecular and cell biology
    Mitsuhiro 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...
  5. ncbi 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...
  6. ncbi A novel mutation of the doublecortin gene in Japanese patients with X-linked lissencephaly and subcortical band heterotopia
    M 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...
  7. ncbi Mutation of the doublecortin gene in male patients with double cortex syndrome: somatic mosaicism detected by hair root analysis
    M 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...
  8. ncbi Severe hypoglycaemia in a patient with glycogen storage disease type III induced by infectious mononucleosis
    T 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...
  9. ncbi Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1
    T 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...
  10. ncbi Truncation at the C-terminus of the DAX-1 protein impairs its biological actions in patients with X-linked adrenal hypoplasia congenita
    J 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...
  11. ncbi Loss of doublecortin in heterotopic gray matter of a fetus with subcortical laminar heterotopia
    M Mizuguchi
    Department of Pediatrics, Jichi Medical School, Kawachi gun, Tochigi, Japan
    Neurology 59:143-4. 2002
  12. ncbi Prader-Willi syndrome in a child with XYY
    A Honma
    Department of Pediatrics, Yamagata Medical Rehabilitation Center for Disabled Persons, Japan
    J Hum Genet 44:412-3. 1999
    ....
  13. ncbi Diffusion MRI abnormalities after prolonged febrile seizures with encephalopathy
    J 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)...
  14. doi Effect of eradication of Helicobacter pylori on incidence of metachronous gastric carcinoma after endoscopic resection of early gastric cancer: an open-label, randomised controlled trial
    Kazutoshi 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...
  15. ncbi Megalencephaly and polymicrogyria with polydactyly syndrome
    Jun 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...
  16. ncbi Early onset West syndrome with cerebral hypomyelination and reduced cerebral white matter
    Jun 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...
  17. ncbi Progressive sliding hiatal hernia as a complication of Menkes' syndrome
    Takashi 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...
  18. ncbi Mutation of ARX causes abnormal development of forebrain and testes in mice and X-linked lissencephaly with abnormal genitalia in humans
    Kunio 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...
  19. ncbi Asymptomatic hereditary Alexander's disease caused by a novel mutation in GFAP
    Takashi 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...
  20. ncbi Fluctuation of computed tomographic findings in white matter in Alexander's disease
    Takashi 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...
  21. ncbi Mutations of ARX are associated with striking pleiotropy and consistent genotype-phenotype correlation
    Mitsuhiro Kato
    Department of Human Genetics, The University of Chicago, Chicago, Illinois 60637, USA
    Hum Mutat 23:147-59. 2004
    ....
  22. ncbi Microcephaly, cerebellar atrophy, and focal segmental glomerulosclerosis in two brothers: a possible mild form of Galloway-Mowat syndrome
    Takashi 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...
  23. ncbi Lissencephaly and the molecular basis of neuronal migration
    Mitsuhiro 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...
  24. doi De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy
    Hirotomo 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...
  25. ncbi A loss-of-function mutation in the FTSJ1 gene causes nonsyndromic X-linked mental retardation in a Japanese family
    Kyoko 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...
  26. ncbi Contrast sensitivity of patients with severe motor and intellectual disabilities and cerebral visual impairment
    Shinya 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...
  27. ncbi Clinical and molecular cytogenetic characterization of two patients with non-mutational aberrations of the FMR2 gene
    Shozo 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...
  28. ncbi Acute encephalopathy with refractory status epilepticus: bilateral mesial temporal and claustral lesions, associated with a peripheral marker of oxidative DNA damage
    Takashi 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...
  29. ncbi Magnetoencephalography in patients with tuberous sclerosis and localization-related epilepsy
    Takanori 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
    ....
  30. ncbi No detectable genomic aberrations by BAC array CGH in Kabuki make-up syndrome patients
    Noriko Miyake
    Am J Med Genet A 140:291-3. 2006
  31. ncbi Craniosynostosis with extra copy of MSX2 in a patient with partial 5q-trisomy
    Takashi Shiihara
    Am J Med Genet A 128:214-6. 2004
  32. ncbi BAC array CGH reveals genomic aberrations in idiopathic mental retardation
    Noriko 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)...