Yoshiaki Saito

..This agent may also be promising for the treatment of intractable primary headaches during childhood...

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..The variations in clinical phenotypes may imply multiple causative genes for AHC. This variation should be considered while managing patients with this disorder...

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..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...

..1p36 deletion syndrome should be broadly recognized as a differential diagnosis of regional polymicrogyria and/or infantile spasms...

..These results provide the basis for the appropriate choice of medical and surgical treatment for managing bilateral, widespread cortical malformations...

..1330_1338dup9). This is the first report of an Asian patient with LMNA-related congenital muscular dystrophy (L-CMD) and a dropped head...

..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...

..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...

..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...

..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...

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..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...

..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...

..The pathophysiologic significance of these structures is discussed...

..SCN1A mutations may need to be further explored in patients with HH syndrome without features of SMEI...

..So far, there have been no reports on simultaneous development of congenital axonal neuropathy and West syndrome...

..We suggest that these behaviors of expiratory neurons are essential in the phase resetting of the respiratory cycle in association with the swallowing...

..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...

..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...

..Besides the severe muscle involvement, these clinical findings further broaden the clinical spectrum of actinopathy phenotypes...

..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...

..These findings suggested that the patient had focal cortical myoclonus due to rolandic focal cortical dysplasia...

..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...

..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...

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..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...

..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...

..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...

..For the first time, MECP2 mutation was confirmed to be the genetic basis of this condition...

..Sebaceous nevus syndrome may have been due to certain allelic defects that were independent of those for neurocutaneous melanosis...

..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...

..To report on two children with encephalopathy caused by dietary thiamine deficiency due to newly developing nutritional problems in contemporary Japan...

..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...

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..Pallidal deep-brain stimulation may be considered the therapy of choice for children with intractable hyperkinetic movement disorders...

..Decreased SP may represent the autonomic dysfunction in AHC, for which an etiology with progressive neuronal damage can be hypothesized...

..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...

..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...

..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...

..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...

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..We conclude that particular types of chromosomal aberrations may have a propensity to develop the condition categorized as electrical status epilepticus in sleep...

..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...

..The differential diagnoses for the clinical and pathological characteristics of this patient are discussed...

..This type of focal dystonia may be characteristic in XPA and requires special attention during the management of these patients to avoid serious complications...

..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...

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