Masayuki Sasaki

Summary

Affiliation: National Institute of Neuroscience
Country: Japan

Publications

  1. ncbi request reprint Magnetic resonance imaging in congenital facial palsy
    Masayuki Sasaki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira 187 8551, Japan
    Brain Dev 30:206-10. 2008
  2. ncbi request reprint [Severe motor and intellectual disabilities and brain death in children]
    Masayuki Sasaki
    Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 45:5-10. 2013
  3. doi request reprint Absence of small-vessel abnormalities in alternating hemiplegia of childhood
    Masayuki Sasaki
    Department of Child Neurology, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 33:390-3. 2011
  4. ncbi request reprint Brain perfusion SPECT and EEG findings in children with autism spectrum disorders and medically intractable epilepsy
    Masayuki Sasaki
    Department of Child Neurology, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 32:776-82. 2010
  5. doi request reprint Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood
    Masayuki Sasaki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 31:20-6. 2009
  6. ncbi request reprint Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria
    Masayuki Sasaki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Tokyo, Japan
    Brain Dev 28:600-3. 2006
  7. ncbi request reprint Clinical aspects of hemimegalencephaly by means of a nationwide survey
    Masayuki Sasaki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Tokyo, Japan
    J Child Neurol 20:337-41. 2005
  8. ncbi request reprint Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum
    Masayuki Sasaki
    Department of Child Neurology, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    Brain Dev 31:582-7. 2009
  9. ncbi request reprint [Two boys with non-progressive unilateral atrophy of the calf muscles]
    Masayuki Sasaki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 38:458-62. 2006
  10. ncbi request reprint Delayed maturation and differentiation of neurons in focal cortical dysplasia with the transmantle sign: analysis of layer-specific marker expression
    Takafumi Sakakibara
    Epilepsy Center, National Center of Neurology and Psychiatry, Tokyo, Japan
    J Neuropathol Exp Neurol 71:741-9. 2012

Detail Information

Publications113 found, 100 shown here

  1. ncbi request reprint Magnetic resonance imaging in congenital facial palsy
    Masayuki Sasaki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira 187 8551, Japan
    Brain Dev 30:206-10. 2008
    ....
  2. ncbi request reprint [Severe motor and intellectual disabilities and brain death in children]
    Masayuki Sasaki
    Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 45:5-10. 2013
    ..The length of a life is not so important. Extreme SMID and "brain death" are completely different concepts. I hope that we can create a safe and comfortable society for all individuals in the near future...
  3. doi request reprint Absence of small-vessel abnormalities in alternating hemiplegia of childhood
    Masayuki Sasaki
    Department of Child Neurology, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 33:390-3. 2011
    ..To investigate whether Japanese patients with alternating hemiplegia of childhood (AHC) have the similar small-vessel abnormalities in skin reported in European patients with AHC...
  4. ncbi request reprint Brain perfusion SPECT and EEG findings in children with autism spectrum disorders and medically intractable epilepsy
    Masayuki Sasaki
    Department of Child Neurology, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 32:776-82. 2010
    ..We performed brain perfusion single-photon emission computed tomography (SPECT) to detect the abnormal brain region in children with both autism spectrum disorders (ASD) and medically intractable epilepsy...
  5. doi request reprint Abnormal cerebral glucose metabolism in alternating hemiplegia of childhood
    Masayuki Sasaki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 31:20-6. 2009
    ..AHC might therefore result from focal abnormal glucose metabolism in the brain occurring progressively or permanently, particularly in the frontal lobes and the cerebellum...
  6. ncbi request reprint Basal ganglia lesions in a patient with 3-hydroxyisobutyric aciduria
    Masayuki Sasaki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Tokyo, Japan
    Brain Dev 28:600-3. 2006
    ..3HiB-uria should be recognized as one of the group of branched chain organic acidemias that can produce lesions in the basal ganglia...
  7. ncbi request reprint Clinical aspects of hemimegalencephaly by means of a nationwide survey
    Masayuki Sasaki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Tokyo, Japan
    J Child Neurol 20:337-41. 2005
    ..Neither underlying disorders nor laterality of the affected side was related to the degree of clinical severity...
  8. ncbi request reprint Diffuse cerebral hypomyelination with cerebellar atrophy and hypoplasia of the corpus callosum
    Masayuki Sasaki
    Department of Child Neurology, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    Brain Dev 31:582-7. 2009
    ..Based on common MRI findings and the relatively mild clinical courses, we believe that these patients may have another subset form of diffuse hypomyelination syndrome involving the cerebral white matter and cerebellum...
  9. ncbi request reprint [Two boys with non-progressive unilateral atrophy of the calf muscles]
    Masayuki Sasaki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 38:458-62. 2006
    ..If a confirmed cause cannot be found, then there should be a careful follow-up of the patient, even if the symptoms are stable...
  10. ncbi request reprint Delayed maturation and differentiation of neurons in focal cortical dysplasia with the transmantle sign: analysis of layer-specific marker expression
    Takafumi Sakakibara
    Epilepsy Center, National Center of Neurology and Psychiatry, Tokyo, Japan
    J Neuropathol Exp Neurol 71:741-9. 2012
    ..By analyzing layer-specific marker expression patterns, we identified apparent neuronal maturation differences between FCD IIA and FCD IIB in cases of transmantle dysplasia...
  11. doi request reprint Treatment of epilepsy in severely disabled children with bilateral brain malformations
    Yoshiaki Saito
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry NCNP, Japan
    J Neurol Sci 277:37-49. 2009
    ..These results provide the basis for the appropriate choice of medical and surgical treatment for managing bilateral, widespread cortical malformations...
  12. doi request reprint Abnormal maturation and differentiation of neocortical neurons in epileptogenic cortical malformation: unique distribution of layer-specific marker cells of focal cortical dysplasia and hemimegalencephaly
    Asako Arai
    Epilepsy Center, National Center of Neurology and Psychiatry, Tokyo, Japan
    Brain Res 1470:89-97. 2012
    ..The expression pattern is different between FCD and HME...
  13. doi request reprint Rapidly progressive scoliosis and respiratory deterioration in Ullrich congenital muscular dystrophy
    Takahiro Yonekawa
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    J Neurol Neurosurg Psychiatry 84:982-8. 2013
    ..To characterise the natural history of Ullrich congenital muscular dystrophy (UCMD)...
  14. doi request reprint Late-onset epilepsy in children with acute febrile encephalopathy with prolonged convulsions: A clinical and encephalographic study
    Takashi Saito
    Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Brain Dev 35:531-9. 2013
    ..Thus, this study investigates the most severe subgroup of epilepsy following febrile acute encephalopathy and provides the basis for further exploration of the pathogenesis and treatment of characteristic seizures in this population...
  15. ncbi request reprint A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement
    Ayako Hattori
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Neuromuscul Disord 22:149-51. 2012
    ..1330_1338dup9). This is the first report of an Asian patient with LMNA-related congenital muscular dystrophy (L-CMD) and a dropped head...
  16. doi request reprint Effect of corpus callosotomy on attention deficit and behavioral problems in pediatric patients with intractable epilepsy
    Takahiro Yonekawa
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan
    Epilepsy Behav 22:697-704. 2011
    ..In addition to amelioration of target seizures, CC can improve attention impairments in association with improvement in the postoperative EEG...
  17. doi request reprint Effects of acetazolamide on epileptic apnea in migrating partial seizures in infancy
    Kaori Irahara
    Department of Child Neurology, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaita, Tokyo 187 8551, Japan
    Epilepsy Res 96:185-9. 2011
    ..Single photon emission tomography revealed a significant ictal change in perfusion at bilateral anterior temporal lobes in one patient. Addition of acetazolamide to the regimen resulted in complete disappearance of epileptic seizures...
  18. doi request reprint Hyperkinetic movement disorder in a child treated by globus pallidus stimulation
    Ken Sato
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo, Japan
    Brain Dev 31:452-5. 2009
    ..Pallidal deep-brain stimulation may be considered the therapy of choice for children with intractable hyperkinetic movement disorders...
  19. doi request reprint Surgical management of cortical dysplasia in infancy and early childhood
    Taisuke Otsuki
    Department of Neurosurgery, Epilepsy Center, National Center of Neurology and Psychiatry, Tokyo, Japan
    Brain Dev 35:802-9. 2013
    ..To describe operative procedures, seizure control and complications of surgery for cortical dysplasia (CD) causing intractable epilepsy in infancy and early childhood...
  20. doi request reprint Hypoalbuminemia in early onset dentatorubral-pallidoluysian atrophy due to leakage of albumin in multiple organs
    Shigehiro Nagai
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    J Neurol 260:1263-71. 2013
    ..We hypothesize that the accumulation of the DRPLA gene product with expanded polyQ sequences in the podocytes results in the dysfunction of the glomerular filtration barrier...
  21. pmc High gamma activity of 60-70 Hz in the area surrounding a cortical tuber in an infant with tuberous sclerosis
    Kaori Irahara
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo, 187 8551, Japan
    Ital J Pediatr 38:15. 2012
    ..To detect the epileptogenic region causing epileptic spasms in an infant with tuberous sclerosis (TS)...
  22. ncbi request reprint Novel pathological abnormalities of deep brain structures including dysplastic neurons in anterior striatum associated with focal cortical dysplasia in epilepsy
    Takanobu Kaido
    Departments of Neurosurgery, National Center of Neurology and Psychiatry, Kodaira, Japan
    J Neurosurg Pediatr 10:217-25. 2012
    ..The authors recently described a case of frontal lobe epilepsy cured after the resection of periventricular white matter and striatum, in which dysplastic neurons were revealed. The authors attempted to confirm similar cases...
  23. doi request reprint Startle epilepsy associated with gait-induced seizures: Pathomechanism analysis using EEG, MEG, and PET studies
    Keisuke Saeki
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry NCNP, Kodaira, Japan
    Epilepsia 50:1274-9. 2009
    ..The pathophysiologic significance of these structures is discussed...
  24. doi request reprint Anterior striatum with dysmorphic neurons associated with the epileptogenesis of focal cortical dysplasia
    Takanobu Kaido
    Department of Neurosurgery, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo 187 8551, Japan
    Seizure 19:256-9. 2010
    ..These findings suggest that microscopic dysplasia of basal ganglia can accompany certain cases of focal cortical malformations, and may play a critical role in the epileptogenesis through their interaction with cortical structures...
  25. doi request reprint Reassessment of phenytoin for treatment of late stage progressive myoclonus epilepsy complicated with status epilepticus
    Ayako Miyahara
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Epilepsy Res 84:201-9. 2009
    ..We propose that phenytoin should be considered as a treatment choice for PME patients at late stages to prevent the detrimental effects of prolonged or repeated status epilepticus on the brain tissues...
  26. doi request reprint Hemifacial seizures due to ganglioglioma of cerebellum
    Sae Hanai
    Departments of Child Neurology, National Center Hospital for Neurology and Psychiatry, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira Tokyo 187 8551, Japan
    Brain Dev 32:499-501. 2010
    ..This case and the literature on similar cases indicated that this was a new epileptic syndrome originating in the cerebellum. Early diagnosis and early complete removal of the epileptogenic lesion should be recommended for this syndrome...
  27. doi request reprint Expansion of the first polyalanine tract of the ARX gene in a boy presenting with generalized dystonia in the absence of infantile spasms
    Yuko Shinozaki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Japan
    Brain Dev 31:469-72. 2009
    ..The same ARX gene mutation has been reported in patients with infantile spasms, but was absent in the present case. This finding highlights the diverse phenotypic spectrum that may result from ARX gene mutations...
  28. doi request reprint Peripheral nerve abnormalities in pediatric patients with spinal muscular atrophy
    Takahiro Yonekawa
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan
    Brain Dev 35:165-71. 2013
    ..SMA I showed sensory nerve degeneration, especially of large myelinated fibers. SMA II showed no sensory nerve abnormalities...
  29. ncbi request reprint A case of bulbar type cerebral palsy: representative symptoms of dorsal brainstem syndrome
    Masato Hiyane
    Department of Child Neurology, National Center of Neurology and Psychiatry NCNP, Kodaira, Tokyo, Japan
    Brain Dev 34:787-91. 2012
    ..These findings combined with the patient's symptoms suggested "dorsal brainstem syndrome" and indicated a possibility of prenatal asphyxia in this patient. Nosologic issues regarding this subgroup of cerebral palsy are discussed here...
  30. ncbi request reprint Postnatal evolution of cortical malformation in the "non-affected" hemisphere of hemimegalencephaly
    Hiroshi Kometani
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 32:412-6. 2010
    ..This increase was associated with a distorted gray-white matter boundary. These findings contribute to our understanding of the pathogenesis of HME and may be helpful in determining the management approach for epilepsy in this entity...
  31. doi request reprint A case of congenital axonal neuropathy associated with West syndrome
    Tomoko Mizuno
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Brain Dev 33:692-6. 2011
    ..So far, there have been no reports on simultaneous development of congenital axonal neuropathy and West syndrome...
  32. doi request reprint Multiple band frequency analysis in a child of medial temporal lobe ganglioglioma
    Tomoko Mizuno
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry NCNP, 4 1 1, Kodaira, Tokyo 187 8551, Japan
    Childs Nerv Syst 27:479-83. 2011
    ..Epileptic spasms completely disappeared after tumor resection. These findings suggest that the cerebral cortex may be a source of epileptic spasms and indicate the possibility of usefulness of fast activity analysis in this condition...
  33. ncbi request reprint Evolution of hemiplegic attacks and epileptic seizures in alternating hemiplegia of childhood
    Yoshiaki Saito
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry NCHNP, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Epilepsy Res 90:248-58. 2010
    ..The variations in clinical phenotypes may imply multiple causative genes for AHC. This variation should be considered while managing patients with this disorder...
  34. doi request reprint Long-term developmental outcome after early hemispherotomy for hemimegalencephaly in infants with epileptic encephalopathy
    Ryoko Honda
    Department of Child Neurology, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    Epilepsy Behav 29:30-5. 2013
    ..811, p=0.01). Our results showed that shorter seizure duration during early infancy could provide better postoperative DQ in infants with HME and epileptic encephalopathy...
  35. doi request reprint Semi-automatic volumetry of cortical tubers in tuberous sclerosis complex
    Yasuhiro Nakata
    Department of Radiology, National Center Hospital of Neurology and Psychiatry, 4 1 1 Ogawahigashi, Kodaira, Tokyo, 187 8551, Japan
    Jpn J Radiol 31:253-61. 2013
    ..We also examined the relationship between the volume and number of cyst-like tubers and the age at seizure onset...
  36. doi request reprint A pediatric patient with myopathy associated with antibodies to a signal recognition particle
    Takayoshi Kawabata
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Brain Dev 34:877-80. 2012
    ..Only a limited number of pediatric patients with anti-SRP myopathy has been reported previously, with usually a poor prognosis. Early diagnosis is important for obtaining a better prognosis in patients with anti-SRP myopathy...
  37. ncbi request reprint [Nineteen cases of school-aged children with degenerative or metabolic neurological disorders initially presenting with learning difficulty and/or behavior disturbance]
    Shiho Honzawa
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 44:295-9. 2012
    ..Instead they should be recommended to visit child neurologists, when they present with any problems as aforesaid...
  38. doi request reprint Progressive conduction defects and cardiac death in late infantile neuronal ceroid lipofuscinosis
    Shinobu Fukumura
    Department of Child Neurology, National Centre of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Dev Med Child Neurol 54:663-6. 2012
    ....
  39. ncbi request reprint Muscle glycogen storage disease 0 presenting recurrent syncope with weakness and myalgia
    Sayuri Sukigara
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Neuromuscul Disord 22:162-5. 2012
    ..Her loss of consciousness was gradual and lasted for hours, suggesting that the syncope may not be simply caused by cardiac event but probably also contributed by metabolic distress...
  40. ncbi request reprint Abnormal maturation of non-dysmorphic neurons in focal cortical dysplasia: immunohistochemical considerations
    Sae Hanai
    Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, Kodaira, Japan
    Seizure 19:274-9. 2010
    ..The aim of this study was to investigate maturation of NL-neurons with the focus on neuronal developmental lineage...
  41. doi request reprint Activation of microglia/macrophages expressing phosphorylated S6 ribosomal protein in a case of hemimegalencephaly with progressive calcification and atrophy
    Yutaka Nonoda
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    J Neurol Sci 287:52-9. 2009
    ..The cellular mechanism and significance of P-S6-specific activation of the mTOR cascade in HME, particularly in the inflammatory cell lineage, should be explored further...
  42. ncbi request reprint Electrophysiological evidence of cerebral dysfunction in childhood opsoclonus-myoclonus syndrome
    Hiroshi Sakuma
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Tokyo, Japan
    Mov Disord 25:940-5. 2010
    ..Electrophysiological evidence of cerebral dysfunction observed in this study, however, implies additional involvement of the cerebral cortex, which may contribute to the accompanying psychiatric and cognitive disorders...
  43. doi request reprint Non-convulsive status epilepticus and audiogenic seizures complicating a patient with asymmetrical epileptic spasms
    Yoshiaki Saito
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Brain Dev 32:583-7. 2010
    ....
  44. ncbi request reprint [Recurrent fever related to dantrolene sodium in a girl with sequelae of acute encephalopathy]
    Tsuyoshi Oomi
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 39:440-3. 2007
    ..When dantrolene was once again discontinued, the fever immediately went down. We concluded that the fever of the patient was induced by dantrolene...
  45. ncbi request reprint [Establishment of a brain perfusion single photon emission computed tomography database in children by statistical imaging analysis]
    Ai Fukushima
    Departments of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 37:400-4. 2005
    ..This database enabled us to easily find 3-dimensional brain perfusion abnormality in individual patient by SPECT, and may help elucidate the pathophysiology of many brain disorders...
  46. ncbi request reprint Expression of astrocyte-related receptors in cortical dysplasia with intractable epilepsy
    Sayuri Sukigara
    From the Epilepsy Center SS, TO, SH, RH, TS, EN, TK, NS, YK, AT, KS, YS, MS, YG, MI, Departments of Mental Retardation and Birth Defect Research SS, hd, sn, SH, YG, MI, Neurosurgery TO, TK, YK, AT, Child Neurology RH, TS, EN, KS, MS, Radiology NS, and Laboratory Medicine YS, National Center of Neurology and Psychiatry, Kodaira, Tokyo and Department of Pharmacology, Interdisciplinary Graduate School of Medicine and Engineering, University of Yamanashi, London
    J Neuropathol Exp Neurol 73:798-806. 2014
    ....
  47. ncbi request reprint Accelerated myelination along fiber tracts in patients with hemimegalencephaly
    Kouhei Kamiya
    Department of Radiology, National Center Hospital of Neurology and Psychiatry, 4 1 1, Ogawahigashi chyo, Kodaira, Tokyo 187 8551, Japan
    J Neuroradiol 41:202-10. 2014
    ..This study investigated the degree of myelination and presence of aberrant fibers in hemimegalencephaly through a retrospective review of MRI scans in relation to histopathological findings...
  48. pmc Pontine malformation, undecussated pyramidal tracts, and regional polymicrogyria: a new syndrome
    Kaori Irahara
    Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan Department of Pediatrics, National Hospital Organization Utano Hospital, Ukyo ku, Kyoto, Kyoto, Japan Electronic address
    Pediatr Neurol 50:384-8. 2014
    ....
  49. doi request reprint MELAS phenotype associated with m.3302A>G mutation in mitochondrial tRNA(Leu(UUR)) gene
    Masahide Goto
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan
    Brain Dev 36:180-2. 2014
    ..Histological examination showed strongly SDH reactive blood vessels (SSVs), not present in previous cases with myopathies due to the m.3302A>G mutation. These findings broaden the phenotypic spectrum of this mutation. ..
  50. doi request reprint Cerebral blood flow on (99m)Tc ethyl cysteinate dimer SPECT in 2 siblings with monocarboxylate transporter 8 deficiency
    Masahide Goto
    Departments of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan
    Clin Nucl Med 38:e276-8. 2013
    ..A reduction in regional cerebral blood flow, as observed using SPECT, may be a common feature of monocarboxylate transporter 8 deficiency...
  51. doi request reprint Focal cortical myoclonus in rolandic cortical dysplasia presenting as hemifacial twitching
    Ryoko Honda
    Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Brain Dev 34:886-90. 2012
    ..These findings suggested that the patient had focal cortical myoclonus due to rolandic focal cortical dysplasia...
  52. doi request reprint Polymicrogyria and infantile spasms in a patient with 1p36 deletion syndrome
    Yoshiaki Saito
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo 187 8551, Japan
    Brain Dev 33:437-41. 2011
    ..1p36 deletion syndrome should be broadly recognized as a differential diagnosis of regional polymicrogyria and/or infantile spasms...
  53. ncbi request reprint [Two patients with congenital insensitivity to pain with anhidrosis showing marked prolongation of central conduction time in short latency somatosensory evoked potential]
    Ryuta Tanaka
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 41:452-6. 2009
    ..The girl did not have epilepsy and the abnormalities of her F-VEP and SSEP might have been caused by the developmental deficit of the central nervous system associated with the pathogenesis of CIPA...
  54. ncbi request reprint [A case of Möbius syndrome presenting with symptoms of severe infantile form of congenital muscular disorder]
    Yoshihiko Imamura
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 39:59-62. 2007
    ....
  55. doi request reprint Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification
    Asako Arai
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo, Japan
    Neuromuscul Disord 19:485-8. 2009
    ..Besides the severe muscle involvement, these clinical findings further broaden the clinical spectrum of actinopathy phenotypes...
  56. ncbi request reprint Evaluation of FDG-PET and ECD-SPECT in patients with subcortical band heterotopia
    Kimiteru Ito
    Department of Radiology, National Center of Neurology and Psychiatry, Tokyo, Japan Electronic address
    Brain Dev 36:578-84. 2014
    ....
  57. pmc A nationwide survey on Marinesco-Sjögren syndrome in Japan
    Masahide Goto
    Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan
    Orphanet J Rare Dis 9:58. 2014
    ..MSS is extremely rare, and its clinical, pathological, and genetic features are not yet fully understood...
  58. doi request reprint Unusual exocrine complication of pancreatitis in mitochondrial disease
    Akihiko Ishiyama
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan
    Brain Dev 35:654-9. 2013
    ....
  59. ncbi request reprint Novel AGTR2 missense mutation in a Japanese boy with severe mental retardation, pervasive developmental disorder, and epilepsy
    Eri Takeshita
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Tokyo, Japan
    Brain Dev 34:776-9. 2012
    ..572G>A (p.G191E) in a 6-year-old boy showing severe mental retardation, pervasive developmental disorder, and epilepsy. This is the first report on AGTR2 mutation in a Japanese boy with mental retardation...
  60. doi request reprint Importance of CAG repeat length in childhood-onset dentatorubral-pallidoluysian atrophy
    Shinsuke Maruyama
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry NCNP, Tokyo, Japan
    J Neurol 259:2329-34. 2012
    ..in Mov Disord 25:1694-1700, 2010). These results provide a basis for predicting the outcome of patients in this particular age group, as well as for assessing the results of future clinical therapeutic trials...
  61. ncbi request reprint [Continuous midazolam infusion for refractory nonconvulsive status epilepticus in children]
    Tatsuro Nobutoki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 37:369-73. 2005
    ..Serious complications such as respiratory depression or hypotension were not observed. Continuous intravenous infusion of MDL was effective and safe for NCSE in children, and can be used as firstline therapy for this condition...
  62. ncbi request reprint [Three infantile cases of temporal lobe epilepsy presenting as apnea]
    Hiroto Akaike
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 40:33-7. 2008
    ..We would recommend EEG with video monitoring during apneic attacks in such cases...
  63. ncbi request reprint [Hereditary spastic paraplegia associated with congenital cataracts, mental retardation and peripheral neuropathy]
    Ayako Hattori
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 42:454-7. 2010
    ....
  64. ncbi request reprint Congenital monomelic neurogenic disorder with calf muscle hypertrophy
    Tetsuro Nagasawa
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 25:571-3. 2003
    ..Although cases with neurogenic muscle hypertrophy, especially calf muscle hypertrophy, have been reported, none of them was congenital or associated with spina bifida occulta...
  65. doi request reprint Abnormal glucose metabolism in aromatic L-amino acid decarboxylase deficiency
    Shuhei Ide
    Department of Child Neurology, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 32:506-10. 2010
    ..These findings suggested that the severe dystonic features were caused by abnormal function of bilateral basal ganglia and severe psychomotor retardation could be due to abnormalities in prefrontal cortical activity...
  66. doi request reprint Central nervous system and muscle involvement in an adolescent patient with riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
    Kiyoko Ishii
    Department of Child Neurology, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 32:669-72. 2010
    ..Early diagnosis is important because riboflavin treatment has been effective in a significant number of patients with MADD...
  67. ncbi request reprint [Effect of neurotropin on chronic headaches in children]
    Yoshiaki Saito
    Department of Child Neurology, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 44:477-81. 2012
    ..This agent may also be promising for the treatment of intractable primary headaches during childhood...
  68. ncbi request reprint Late-onset mental deterioration and fluctuating dystonia in a female patient with a truncating MECP2 mutation
    Eri Takeshita
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    J Neurol Sci 308:168-72. 2011
    ..The phenotype of this patient corresponds to the rare, unestablished variant of "late childhood deterioration" in MECP2-related disorders. For the first time, MECP2 mutation was confirmed to be the genetic basis of this condition...
  69. doi request reprint Profiles of blood biomarkers in alternating hemiplegia of childhood--increased MMP-9 and decreased substance P indicates its pathophysiology
    Takehiko Inui
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 34:196-200. 2012
    ..Decreased SP may represent the autonomic dysfunction in AHC, for which an etiology with progressive neuronal damage can be hypothesized...
  70. doi request reprint Extramuscular manifestations in children with severe congenital myopathy due to ACTA1 gene mutations
    Yoshiaki Saito
    Department of Child Neurology, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Neuromuscul Disord 21:489-93. 2011
    ....
  71. ncbi request reprint [A case of neurocutaneous melanosis associated with focal cortical dysplasia]
    Tomoko Mizuno
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 43:300-3. 2011
    ..Sebaceous nevus syndrome may have been due to certain allelic defects that were independent of those for neurocutaneous melanosis...
  72. ncbi request reprint [Pleural effusion associated with long-term dantrolene administration in three patients with severe motor and intellectual disabilities]
    Mari Okada
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 38:39-43. 2006
    ..It is important to take chemical pleurisy into consideration when dealing with pleural effusion of unknown etiology. Moreover, respiratory side effect should be examined in patients treated with chronic dantrolene administration...
  73. ncbi request reprint Longitudinal MR findings in a patient with hemimegalencephaly associated with tuberous sclerosis
    Hiroshi Sakuma
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 27:458-61. 2005
    ..Electroencephalogram revealed low amplitude of background activities in the right frontal area. The cause of this atrophic change in the hemimegalencephalic hemisphere, which could be a hamartomatous lesion, remains unknown...
  74. doi request reprint Augmented startle responses in opsoclonus-myoclonus syndrome
    Takahiro Yonekawa
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4 1 1 Ogawa higashicho, Kodaira, Tokyo, Japan
    Brain Dev 33:335-8. 2011
    ....
  75. doi request reprint Neocortical layer formation of human developing brains and lissencephalies: consideration of layer-specific marker expression
    Takashi Saito
    Department of Mental Retardation and Birth Defect Research, National Center of Neurology and Psychiatry, Kodaira, 187 8502, Japan
    Cereb Cortex 21:588-96. 2011
    ..Various lissencephalies revealed abnormal layer formation by random migration...
  76. ncbi request reprint Hemiconvulsion-hemiplegia syndrome in a patient with severe myoclonic epilepsy in infancy
    Takafumi Sakakibara
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry, Tokyo, Japan
    Epilepsia 50:2158-62. 2009
    ..SCN1A mutations may need to be further explored in patients with HH syndrome without features of SMEI...
  77. ncbi request reprint [Delineation of the anatomical relationship of innominate artery and trachea by respiratory-gated MR imaging with true FISP sequence in patients with severe motor and intellectual disabilities]
    Yoshinao Fujikawa
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, Kodaira, Tokyo
    No To Hattatsu 40:5-9. 2008
    ..The validity of true-FISP sequences combined with the respiratory-gated technique was confirmed useful for the patients who are difficult to lie quietly and to hold their breath voluntarily...
  78. doi request reprint Thiamine-deficient encephalopathy due to excessive intake of isotonic drink or overstrict diet therapy in Japanese children
    Keisuke Saeki
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 32:556-63. 2010
    ..To report on two children with encephalopathy caused by dietary thiamine deficiency due to newly developing nutritional problems in contemporary Japan...
  79. doi request reprint Bromoderma in a patient with migrating partial seizures in infancy
    Shin Nabatame
    Department of Child Neurology, National Center Hospital NCH, National Center of Neurology and Psychiatry NCNP, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Epilepsy Res 91:283-8. 2010
    ..Bromoderma aggravated at the site of skin biopsy that was performed 4 weeks after KBr termination. Bromoderma tuberosum should be recognized widely, considering the increasing use of KBr for treating intractable childhood epilepsy...
  80. doi request reprint 8p deletion and 9p duplication in two children with electrical status epilepticus in sleep syndrome
    Tojo Nakayama
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Seizure 21:295-9. 2012
    ..We conclude that particular types of chromosomal aberrations may have a propensity to develop the condition categorized as electrical status epilepticus in sleep...
  81. ncbi request reprint Therapeutic effect and [123I]IMP SPECT findings of sodium dichloroacetate in a patient with MELAS
    Akira Sudo
    Department of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry, Tokyo, Japan
    Neurology 62:338-9. 2004
  82. ncbi request reprint [Serial median nerve SEPs and SSEPs in patients with West syndrome]
    Naohide Shiroma
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 36:45-8. 2004
    ..Persistent lack of SEPs, however, indicated poor outcome of seizures, EEG and development. Central conduction time in SSEPs did not correlate with seizure or developmental outcome...
  83. doi request reprint Repeat magnetoencephalography and surgeries to eliminate atonic seizures of non-lesional frontal lobe epilepsy
    Tojo Nakayama
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, 4 1 1 Ogawa higashi machi, Kodaira, Tokyo 187 8553, Japan
    Epilepsy Res 84:263-7. 2009
    ..Repeat MEGs consistently localized the epileptogenic zone in a patient with intractable residual non-lesional left frontal lobe epilepsy...
  84. doi request reprint A case of intraneural perineurioma presenting with monomelic atrophy in a child
    Ayako Miyahara-Katayama
    Department of Child Neurology, National Center of Neurology and Psychiatry NCNP, Masayuki Sasaki, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 32:338-41. 2010
    ..Intraneural perineurioma is a very rare disorder, but is tend to be found in youth. This disorder should be considered when we see children with monomelic weakness and/or atrophy...
  85. doi request reprint Cardio-facio-cutaneous syndrome with infantile spasms and delayed myelination
    Koichi Aizaki
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Brain Dev 33:166-9. 2011
    ..This case indicated that infantile spasms in CFC syndrome can be difficult to control and may be accompanied by severe psychomotor retardation and abnormal myelination...
  86. ncbi request reprint [Serious complications of intraventricular interferon-alpha and ribavirin in the treatment of subacute sclerosing panencephalitis]
    Ken Sato
    Department of Child Neurology, National Center Hospital for Neurology and Psychiatry, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 41:224-8. 2009
    ..We also propose that a standard protocol for the use of interferon-alpha and ribavirin and the cessation of current therapy is necessary...
  87. ncbi request reprint Fluctuating hearing loss, episodic headache, and stroke with platelet hyperaggregability: coexistence of auditory neuropathy and cochlear hearing loss
    Tatsuro Nobutoki
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Brain Dev 28:55-9. 2006
    ..In this patient, hearing impairment and white matter strokes appeared to respectively related to impaired blood flow to the cochlea and white matter caused by platelet dysfunction triggered by physiologic stresses...
  88. ncbi request reprint [Case of 12-year-old boy with idiopathic recurrent neuralgic amyotrophy]
    Ai Fukushima
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 38:369-72. 2006
    ..EMG and imaging studies showed focal neurogenic abnormalities, which were confirmed by muscle biopsy. Neuralgic amyotrophy usually occurs in young adults and it is very rare in children...
  89. doi request reprint CD4+ CD25(high) regulatory T cell in childhood ocular myasthenia gravis
    Hiroshi Sakuma
    Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan
    Brain Dev 33:442-4. 2011
    ..This discrepancy could result from diversity within the immunopathogenesis of myasthenia gravis and may underpin a particular subgroup of myasthenia gravis seen in the East-Asian pediatric population...
  90. doi request reprint Acute autonomic sensory and motor neuropathy associated with parvovirus B19 infection
    Sae Hanai
    Department of Child Neurology, National Center Hospital for Neurology and Psychiatry, National Center of Neurology and Psychiatry, Kodaira, Japan
    Brain Dev 33:161-5. 2011
    ..AASM is very rare in pediatric populations, and there is no report of AASM associated with HPV-B19 infection...
  91. ncbi request reprint [A patient with 22q13 deletion syndrome accompanied by epilepsy with continuous spike-waves during slow wave sleep (CSWS) and cerebral infarction]
    Hiroto Akaike
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 39:451-5. 2007
    ..The severe EEG abnormalities and frequent status epilepticus might induce this deterioration and brain infarction...
  92. doi request reprint Effects of low-dose hydrochlorothiazide on urolithiasis and bone metabolism in severely disabled individuals: a pilot study
    Chizuru Ikeda
    Department of Child Neurology, National Center Hospital of Neurology and Psychiatry, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigashi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 33:400-5. 2011
    ..Hyponatremia is the most frequent and significant adverse effect of HCT, for which a close observation is mandatory in HCT application for patients with SMID...
  93. ncbi request reprint [A case of hemimegalencephaly with slowly progressive expansion]
    Seiichiro Yoshioka
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 39:432-5. 2007
    ..Hemimegalencephaly with such a progressive expansion has never been described previously. These findings are consistent with a hemimegalencephaly showing progressive expansion, which has never been described previously...
  94. doi request reprint Acute nonparaneoplastic limbic encephalitis in childhood: a case series in Japan
    Hiroshi Sakuma
    Department of Child Neurology, National Center Hospital for Mental, Nervous, and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Pediatr Neurol 43:167-72. 2010
    ..These clinical observations indicate a child-specific phenotype of limbic encephalitis. Further studies on its immunopathogenesis are needed to determine whether childhood limbic encephalitis is a distinct subcategory...
  95. ncbi request reprint [Adverse effects of dichloroacetate in a girl with mitochondrial disorder]
    Mina Izumi
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo
    No To Hattatsu 35:54-8. 2003
    ..The decreased activity may be an adverse effect on the central nervous system. The dosage of DCA should be adjusted for each patient...
  96. ncbi request reprint Familial reducing body myopathy
    Maki Ohsawa
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan
    Brain Dev 29:112-6. 2007
    ..There are no specific clinical characteristics distinctive to RBM, thus further studies are necessary to characterize this disorder both clinically and pathologically...
  97. ncbi request reprint [Non-intravenous high-dose phenobarbital therapy for status epilepticus refractory to continuous infusion of midazolam or pentobarbital: report of three cases]
    Akira Sudoh
    Department of Child Neurology, National Center Hospital for Mental, Nervous and Muscular Disorders, Kodaira, Tokyo
    No To Hattatsu 34:23-9. 2002
    ..NIHDPB may be one of the most effective and safe treatments in Japan for status epileptics refractory to continuous infusion of MDL or PTB...
  98. ncbi request reprint Aberrant neuronal migration in the brainstem of fukuyama-type congenital muscular dystrophy
    Yoshiaki Saito
    Department of Pediatrics, Tokyo Women s Medical University, Tokyo, Japan
    J Neuropathol Exp Neurol 62:497-508. 2003
    ....
  99. ncbi request reprint Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L
    Naohide Shiroma
    Department of Inherited Metabolic Disease, National Institute of Neuroscience, National Center of Neurology and Psychiatry, 4 1 1, Tokyo, Japan
    Brain Dev 25:116-21. 2003
    ..We conclude that molecular genetic analysis of the GFAP gene is feasible for antemortem diagnosis of Alexander disease in Japanese patients...
  100. ncbi request reprint Renal disease in Arima syndrome is nephronophthisis as in other Joubert-related Cerebello-oculo-renal syndromes
    Satoko Kumada
    Department of Pediatrics, Metropolitan Fuchu Medical Center for Severe Motor and Intellectual Disabilities, Tokyo, Japan
    Am J Med Genet A 131:71-6. 2004
    ..e., cystic dysplastic kidney (CDK), our study indicates that the phenotype of the renal disease is common among these syndromes as well as abnormalities in other organs, suggesting the underlying similar molecular mechanisms...
  101. ncbi request reprint [Three cases with severe motor and intellectual disabilities presenting the severest condition caused by prolonged non-convulsive status epilepticus]
    Yoshinao Fujikawa
    Second Department of Pediatrics, Ohashi Hospital, Toho University School of Medicine, Tokyo
    No To Hattatsu 35:43-8. 2003
    ..Continuous infusion of thiopental diminished NCSE, and he could walk again. Psychomotor deterioration in patients with severe motor and intellectual disabilities may be caused by NCSE, which should not be overlooked...