Yoshiaki Saito

Summary

Affiliation: National Institute of Neuroscience
Country: Japan

Publications

  1. doi request reprint Effects of clonazepam on self-induced photoparoxysmal responses
    Yoshiaki Saito
    Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan Electronic address
    Brain Dev 36:337-41. 2014
  2. 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
  3. doi 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
  4. 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
  5. 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
  6. 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
  7. doi request reprint Reflections on the brainstem dysfunction in neurologically disabled children
    Yoshiaki Saito
    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 31:529-36. 2009
  8. 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
  9. 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
  10. doi 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

Collaborators

Detail Information

Publications54

  1. doi request reprint Effects of clonazepam on self-induced photoparoxysmal responses
    Yoshiaki Saito
    Department of Child Neurology, National Center of Neurology and Psychiatry, Tokyo, Japan Electronic address
    Brain Dev 36:337-41. 2014
    ..Valproate sodium was ineffective in decreasing PPR, as revealed by EEG, and the frequency of blinking episodes, but clonazepam attenuated PPR and significantly decreased the blinking behavior. ..
  2. 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...
  3. doi 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...
  4. 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
    ....
  5. 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
    ....
  6. 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...
  7. doi request reprint Reflections on the brainstem dysfunction in neurologically disabled children
    Yoshiaki Saito
    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 31:529-36. 2009
    ..Close observation and logical assessment of brainstem dysfunction symptoms should be encouraged in order to achieve better understanding and management of these symptoms in disabled children...
  8. 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...
  9. 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...
  10. doi 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...
  11. 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...
  12. doi 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...
  13. 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...
  14. doi 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...
  15. 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
    ....
  16. 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...
  17. 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...
  18. doi 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...
  19. 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...
  20. 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...
  21. ncbi request reprint Activity of neurons in ventrolateral respiratory groups during swallowing in decerebrate rats
    Yoshiaki Saito
    Department of Neurobiology, Tokyo Metropolitan Institute for Neuroscience, Tokyo, Japan
    Brain Dev 25:338-45. 2003
    ..We suggest that these behaviors of expiratory neurons are essential in the phase resetting of the respiratory cycle in association with the swallowing...
  22. doi 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...
  23. doi request reprint 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
    ....
  24. doi 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...
  25. 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...
  26. 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...
  27. ncbi request reprint Fukutin expression in mouse non-muscle somatic organs: its relationship to the hypoglycosylation of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy
    Yoshiaki Saito
    Department of Pediatrics, Tokyo Women s Medical University, Tokyo, Japan
    Brain Dev 26:469-79. 2004
    ..It is unclear why muscle and brain symptoms predominate in FCMD, however re-evaluation of the functions of alpha-DG and fukutin protein in non-muscle somatic organs may provide valuable insight...
  28. 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. ..
  29. 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...
  30. 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...
  31. 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...
  32. 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
    ....
  33. 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
    ....
  34. 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...
  35. doi 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...
  36. 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...
  37. 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...
  38. 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...
  39. 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...
  40. 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
    ....
  41. doi 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...
  42. doi request reprint Persistent verbal and behavioral deficits after resection of the left supplementary motor area in epilepsy surgery
    Yukari Endo
    Department of Child Neurology, National Center of Neurology and Psychiatry, 4 1 1 Ogawahigachi cho, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 36:74-9. 2014
    ..These complications should be recognized for the prediction and assessment of deficits in children after surgical intervention involving this region. ..
  43. 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...
  44. 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...
  45. 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...
  46. 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...
  47. 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...
  48. doi request reprint Concurrence of multiple types of eyelid synkinesia in a patient with congenital anomalies
    Akihiko Ishiyama
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry, Kodaira, Tokyo 187 8551, Japan
    Brain Dev 34:140-2. 2012
    ..This suggests that the different types of synkinesia may represent a common etiology of aberrant innervations and/or reflex phenomena of the cranial nerves caused by a specific genetic defect...
  49. 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
    ....
  50. 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...
  51. ncbi request reprint Laryngeal dystonia in xeroderma pigmentosum
    Ayako Muto
    Department of Pediatrics and Pediatric Neurology, Yokohama Ryo iku Medical Center, 557 2 Ichizawa cho, Asahi ku, Yokohama, and Department of Pediatrics, Tokyo Women s Medical University, Tokyo, Japan
    Brain Dev 27:598-601. 2005
    ..This type of focal dystonia may be characteristic in XPA and requires special attention during the management of these patients to avoid serious complications...
  52. ncbi request reprint Arthrogryposis multiplex congenita with callosal agenesis and dentato-olivary dysplasia
    Yoshiaki Saito
    Department of Child Neurology, Institute of Neurological Sciences, Faculty of Medicine, Tottori University, Yonago 683 8504, Japan
    Brain Dev 28:261-4. 2006
    ..The differential diagnoses for the clinical and pathological characteristics of this patient are discussed...
  53. doi request reprint Inflammatory changes in infantile-onset LMNA-associated myopathy
    Hirofumi Komaki
    Department of Child Neurology, National Center Hospital, National Center of Neurology and Psychiatry NCNP, Ogawa Higashi, Kodaira, Tokyo, Japan
    Neuromuscul Disord 21:563-8. 2011
    ..Our findings suggest that LMNA mutation should be considered in myopathy patients with inflammatory changes during infancy, and that this may help avoid life-threatening events associated with laminopathy...
  54. pmc Activity of brainstem respiratory neurones just before the expiration-inspiration transition in the rat
    Kazuhisa Ezure
    Department of Neurobiology, Tokyo Metropolitan Institute for Neuroscience, Fuchu, Tokyo, Japan
    J Physiol 547:629-40. 2003
    ....