Jun Tohyama

Summary

Affiliation: Epilepsy Center
Country: Japan

Publications

  1. ncbi request reprint [A case of bilateral paramedian thalamic infarction in childhood with the sensory disturbance and the sensory loss of taste]
    Jun Tohyama
    Department of Pediatrics, National Nishi Niigata Central Hospital, Niigata
    No To Hattatsu 36:65-9. 2004
  2. doi request reprint West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14
    Jun Tohyama
    Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, Japan
    Am J Med Genet A 155:2584-8. 2011
  3. doi request reprint Acquired opercular epilepsy with oromotor dysfunction: magnetoencephalographic analysis and efficacy of corticosteroid therapy
    Jun Tohyama
    Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, Niigata, Japan
    J Child Neurol 26:885-90. 2011
  4. doi request reprint Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient
    Jun Tohyama
    Department of Pediatrics, Nishi Niigata Chuo National Hospital, Japan
    Am J Med Genet A 155:130-3. 2011
  5. ncbi request reprint [An infant with multiple cavernous angiomas presenting with frequent epileptic seizures - detection of epileptic focus by magnetoencephalography]
    Jun Tohyama
    Department of Pediatrics, Nishi Niigata Chuo National Hospital
    No To Hattatsu 39:295-9. 2007
  6. ncbi request reprint 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
  7. ncbi request reprint 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
  8. ncbi request reprint 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
  9. doi request reprint Early-onset absence epilepsy at eight months of age
    Yu Kobayashi
    Department of Pediatrics, Nishi Niigata Chuo National Hospital, Niigata
    Epileptic Disord 13:417-21. 2011
  10. 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

Collaborators

Detail Information

Publications29

  1. ncbi request reprint [A case of bilateral paramedian thalamic infarction in childhood with the sensory disturbance and the sensory loss of taste]
    Jun Tohyama
    Department of Pediatrics, National Nishi Niigata Central Hospital, Niigata
    No To Hattatsu 36:65-9. 2004
    ..This patient illustrates that bilateral paramedian thalamic infarction can occur in a previously healthy child...
  2. doi request reprint West syndrome associated with mosaic duplication of FOXG1 in a patient with maternal uniparental disomy of chromosome 14
    Jun Tohyama
    Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, Japan
    Am J Med Genet A 155:2584-8. 2011
    ..2-q12, encompassing FOXG1. The results of the analyses of our patient provide further evidence that not only duplication but also a small increase in the dosage of FOXG1 could cause infantile spasms...
  3. doi request reprint Acquired opercular epilepsy with oromotor dysfunction: magnetoencephalographic analysis and efficacy of corticosteroid therapy
    Jun Tohyama
    Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, Niigata, Japan
    J Child Neurol 26:885-90. 2011
    ..Administration of low-dose prednisolone over a long period was effective for improving the neurological impairments of this patient...
  4. doi request reprint Dandy-Walker malformation associated with heterozygous ZIC1 and ZIC4 deletion: Report of a new patient
    Jun Tohyama
    Department of Pediatrics, Nishi Niigata Chuo National Hospital, Japan
    Am J Med Genet A 155:130-3. 2011
    ..1 might contribute to the dysmorphic facial appearance. A milder phenotype as the Dandy-Walker malformation in our patient supports the idea that modifying loci/genes can influence the development of cerebellar malformation...
  5. ncbi request reprint [An infant with multiple cavernous angiomas presenting with frequent epileptic seizures - detection of epileptic focus by magnetoencephalography]
    Jun Tohyama
    Department of Pediatrics, Nishi Niigata Chuo National Hospital
    No To Hattatsu 39:295-9. 2007
    ..MEG can identify both the epileptogenic zone and lesion underlying the multiple CAs in the infants with catastrophic partial seizures...
  6. ncbi request reprint 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...
  7. ncbi request reprint 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...
  8. ncbi request reprint 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
    ....
  9. doi request reprint Early-onset absence epilepsy at eight months of age
    Yu Kobayashi
    Department of Pediatrics, Nishi Niigata Chuo National Hospital, Niigata
    Epileptic Disord 13:417-21. 2011
    ..Patients with intractable, very early-onset absence epilepsy with a myoclonic component have an unfavourable outcome and may be classified under a new epileptic syndrome, such as "early infantile absence epilepsy"...
  10. 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...
  11. doi request reprint Brain maturation-related spike localization in Panayiotopoulos syndrome: magnetoencephalographic study
    Naka Saito
    Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, and Department of Homeostatic Regulation and Development, Course for Biological Functions and Medical Control, Niigata Graduate School of Medical and Dental Sciences, Japan
    Pediatr Neurol 38:104-10. 2008
    ..These results suggest that the location of spike discharges is not directly related to seizure symptoms, but instead indicates maturation-related cortical hyperexcitability in patients with Panayiotopoulos syndrome...
  12. ncbi request reprint Roles of matrix metalloproteinase-9 and tissue inhibitors of metalloproteinases 1 in acute encephalopathy following prolonged febrile seizures
    Naoko Suenaga
    Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Ube, Yamaguchi 755 8505, Japan
    J Neurol Sci 266:126-30. 2008
    ..Furthermore, an imbalance of serum MMP-9 and TIMP-1 levels in patients with AEPFS may be associated with severe neurological sequelae...
  13. doi request reprint Maternal uniparental disomy 14 syndrome demonstrates prader-willi syndrome-like phenotype
    Kana Hosoki
    Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan
    J Pediatr 155:900-903.e1. 2009
    ..To delineate the significance of maternal uniparental disomy 14 (upd(14)mat) and related disorders in patients with a Prader-Willi syndrome (PWS)-like phenotype...
  14. ncbi request reprint A magnetoencephalographic study of patients with Panayiotopoulos syndrome
    Osamu Kanazawa
    Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, 1 14 1 Masago, Niigata 950 2085, Japan
    Epilepsia 46:1106-13. 2005
    ..To characterize this condition further, we examined the localization of equivalent current dipoles (ECDs) of spike discharges by magnetoencephalography (MEG) in patients with PS...
  15. ncbi request reprint Single and multiple clusters of magnetoencephalographic dipoles in neocortical epilepsy: significance in characterizing the epileptogenic zone
    Makoto Oishi
    Department of Neurosurgery, Epilepsy Center, Nishi Niigata Chuo National Hospital, 1 14 1 Masago, Niigata City, Niigata 950 2085, Japan
    Epilepsia 47:355-64. 2006
    ..To characterize the epileptogenic zone in neocortical epilepsy (NE) by using magnetoencephalography (MEG)...
  16. doi request reprint Acute encephalopathy in children with Dravet syndrome
    Akihisa Okumura
    Department of Pediatrics, Juntendo University Faculty of Medicine, Bunkyo ku, Tokyo, Japan
    Epilepsia 53:79-86. 2012
    ..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...
  17. ncbi request reprint Magnetoencephalographic findings of Panayiotopoulos syndrome with frontal epileptic discharges
    Naka Saitoh
    Department of Pediatrics, Epilepsy Center, Nishi Niigata Chuo National Hospital, Niigata, Japan
    Pediatr Neurol 36:190-4. 2007
    ..In addition, the result of this study, that frontal spike discharges seem to occur in relatively older patients, may suggest a correlation between brain maturation and spike occurrence...
  18. ncbi request reprint Infantile epileptic encephalopathy with a hyperkinetic movement disorder and hand stereotypies associated with a novel SCN1A mutation
    Tsukasa Ohashi
    Department of Child Neurology, Nishi Niigata Chuo National Hospital, Niigata
    Epileptic Disord 16:208-12. 2014
    ..Published with video sequences]. ..
  19. ncbi request reprint Refractory infantile spasms associated with mosaic variegated aneuploidy syndrome
    Noriyuki Akasaka
    Department of Child Neurology, Nishi Niigata Chuo National Hospital, Niigata, Japan
    Pediatr Neurol 49:364-7. 2013
    ..Clinical features also include prenatal-onset growth retardation, microcephaly, mild dysmorphism, feeding difficulty, hypotonia, seizures, and developmental delay...
  20. doi request reprint Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome
    Kazuyuki Nakamura
    From the Department of Human Genetics K Nakamura, K Nishiyama, H K, M N, Y T, N Miyake, N Matsumoto, H S, Yokohama City University Graduate School of Medicine, Yokohama Department of Pediatrics K Nakamura, M K, K Hayasaka, Yamagata University Faculty of Medicine, Yamagata Division of Neurology H O, S Y, M Okuda, T W, Clinical Research Institute, Kanagawa Children s Medical Center, Yokohama Department of Child Neurology E N, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo Department of Pediatric Neurology K Haginoya, Takuto Rehabilitation Center for Children, Sendai Department of Pediatrics J T, Epilepsy Center, Nishi Niigata Chuo National Hospital, Niigata Department of Pediatrics S S, Osaka Medical College Hospital, Osaka National Epilepsy Center K I, Shizuoka Institute of Epilepsy and Neurological Disorders, Shizuoka Department of Pediatrics S T, Yokohama City University Medical Center, Service de Nutrition
    Neurology 81:992-8. 2013
    ..We aimed to investigate the possible association between SCN2A mutations and early-onset epileptic encephalopathies (EOEEs)...
  21. ncbi request reprint Hemiconvulsion-hemiplegia-epilepsy syndrome associated with CACNA1A S218L mutation
    Sawako Yamazaki
    Department of Pediatrics, Niigata City General Hospital, Niigata, Japan
    Pediatr Neurol 45:193-6. 2011
    ....
  22. doi request reprint Congenital variant of Rett syndrome due to an intragenic large deletion in MECP2
    Yu Kobayashi
    Department of Pediatrics, Nishi Niigata Chuo National Hospital, Nishi ku, Niigata, Japan
    Brain Dev 34:601-4. 2012
    ..To ensure an accurate diagnosis of congenital variant RTT, a multiplex ligation-dependent probe amplification analysis of MECP2 should be performed in patients suspected of having this disorder...
  23. ncbi request reprint [Serial MEG change in a boy with Landau-Kleffner syndrome]
    Takanori Kamimura
    Department of Pediatrics, Epilepsy Center, National Nishi Niigata Central Hospital, Niigata
    No To Hattatsu 36:395-400. 2004
    ..The clinical course of this patient suggests that MEG findings are useful not only in making precise diagnosis of LKS but also in assessing and predicting the effects of treatment...
  24. doi request reprint CSF neurofilament and soluble TNF receptor 1 levels in subacute sclerosing panencephalitis
    Takeshi Matsushige
    Department of Pediatrics, Yamaguchi University Graduate School of Medicine, Yamaguchi, Japan
    J Neuroimmunol 205:155-9. 2008
    ..011). We suggest that CSF NF-H levels can be used as a marker of development of neuronal degeneration in SSPE, and that TNF-alpha modifies the neurodestructive pathogenesis in SSPE...
  25. ncbi request reprint [Child case of chronic inflammatory demyelinating polyneuropathy showing phagocytic myelinolysis and regenerative changes on electron microscopic analysis of the sural nerve]
    Sawako Yamazaki
    Department of Pediatrics, Niigata City General Hospital, Niigata
    No To Hattatsu 38:44-8. 2006
    ..So, he was diagnosed as having definite CIDP and prednisolone with gamma-globulin infusion was effective to ameliorate his symptoms...
  26. ncbi request reprint Serum and CSF levels of cytokines in acute encephalopathy following prolonged febrile seizures
    Takashi Ichiyama
    Department of Pediatrics, Yamaguchi University Graduate School of Medicine, 1 1 1 Minamikogushi, Ube, Yamaguchi 755 8505, Japan
    Brain Dev 30:47-52. 2008
    ..Our results suggest that serum IL-6, IL-10, TNF-alpha, and CSF IL-6 are part of the regulatory system of cytokines in AEPFS...
  27. ncbi request reprint Multi-institutional study on the correlation between chromosomal abnormalities and epilepsy
    Tomohiro Kumada
    Department of Pediatrics, Shiga Medical Center for Children, Moriyama, Shiga, Japan
    Brain Dev 27:127-34. 2005
    ..For the other chromosomal aberrations investigated here, the patient numbers were too small to abstract common features of epilepsy...
  28. pmc Screening of male dialysis patients for fabry disease by plasma globotriaosylsphingosine
    Hiroki Maruyama
    Department of Clinical Nephroscience, Niigata University Graduate School of Medical and Dental Sciences, Niigata, Japan
    Clin J Am Soc Nephrol 8:629-36. 2013
    ..Elevated plasma globotriaosylsphingosine is reported to be a hallmark of classic Fabry disease. The purpose of this study was to examine the usefulness of globotriaosylsphingosine as a secondary screening target for Fabry disease...
  29. doi request reprint 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...