Abstract：
:Body movements (BMs) during sleep in patients with age dependent epileptic encephalopathy (ADEE) were studied polysomnographically in order to clarify the underlying mechanism of intractability and the age dependent trend. Twenty patients were divided into two groups according to the prognosis of convulsions. In the good prognosis group, BMs were nearly normal except for a low frequency in some cases. In the intractable group with seizures which were uncontrollable by medication and recurred within a year, BMs showed abnormalities as follows: abnormal distribution according to sleep stages, and/or a low frequency; increased BMs on therapy with prednisolone or ACTH. Moreover, a paradoxical increase of BMs with age and recurrence of seizures concomitantly occurred in the course of the disease. Status epilepticus appeared in cases under 1-DOPA administration or with a strikingly high frequency of BMs. Since electrophysiological evidence indicates that BMs during sleep are modulated by the dopaminergic (DA) system, the present data might suggest that prognosis of convulsions in ADEE depend upon, at least in part, the DA system. And denervated supersensitivity of that system might give rise to recurrence of seizures and status epilepticus.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Iwakawa Y,Ogiso M,Suzuki H,Kawano Y,Koyama J,Shimohira Mdoi
10.1016/s0387-7604(86)80066-3subject
Has Abstractpub_date
1986-01-01 00:00:00pages
433-42issue
4eissn
0387-7604issn
1872-7131pii
S0387-7604(86)80066-3journal_volume
8pub_type
杂志文章abstract：:The author reports eight cases of the Rett syndrome, or dementia-ataxia-autism, in girls. The cases satisfy the following criteria: Normal development in the first mos of life. Profound deterioration of the mental status over a period of several mos. Behavioral pseudoautistic abnormalities. Presence of neurological si...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80030-9
更新日期：1985-01-01 00:00:00
abstract：:Oxidative stress resulting from increased free radical production and/or defects in antioxidant defences may be the cause of various neurodegenerative disorders. In this study, the roles of oxygen free radicals, nitric oxide, superoxide dismutase, vitamin E and vitamin C were investigated in pure and complicated hered...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.12.014
更新日期：2010-02-01 00:00:00
abstract：:A 14-year-old female had repeated vomiting, headache, abdominal pain, visual field deficit and lethargy at the onset of hypertensive encephalopathy. Cerebrospinal fluid (CSF) test revealed a high level of IgG and protein. MRI demonstrated no supratentorial cerebral lesions but hyperintense lesions were observed from t...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.07.002
更新日期：2010-08-01 00:00:00
abstract：BACKGROUND:Mutations in the XPR1 gene are associated with primary familial brain calcifications (PFBC). All reported mutations are missense and inherited as an autosomal dominant trait. PFBC patients exhibited movement disorders, neuropsychiatric symptoms, and other associated symptoms with diverse severity, even withi...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2020.09.014
更新日期：2021-02-01 00:00:00
abstract：:West syndrome (WS) is associated with diverse etiological factors. This fact has suggested that there must be a 'final common pathway' for these etiologies, which operates on the immature brain to result in WS only at the maturational state present during infancy. Any theory for the pathogenesis of WS has to account f...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00312-6
更新日期：2001-11-01 00:00:00
abstract：:To investigate the development of the voluntary control of saccadic eye movement, we examined eye movements in 99 normal children (4-13 years of age). Subjects were asked to fixate a central light for 3-5 s. A target was then presented, either to its right or left. In visually guided saccades, the mean latencies of th...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(00)00101-7
更新日期：2000-05-01 00:00:00
abstract：:We evaluated the cyclic alternating pattern (CAP) during the first year of life in order to obtain information on the maturation of arousal mechanisms during NREM sleep and to provide normative data for CAP parameters in this age range (5-16months). Eleven healthy children (mean age 7.9±3.3months, seven boys) were stu...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.07.008
更新日期：2011-05-01 00:00:00
abstract：:Germ cell tumors originating in the posterior fossa are very rare. Described herein is a case of primary germ cell tumor (yolk sac tumor) found in the cerebellar vermis. A 5-year-old boy who complained of headache was admitted. CT and MRI revealed a tumor with diffuse enhancement by contrast medium in the right cerebe...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90128-7
更新日期：1994-09-01 00:00:00
abstract：:Long-term social prognosis of 120 Japanese patients with West syndrome was surveyed using structured questionnaire at the age of 25.4 years in average. The survey revealed that ADL score remained null in one-fifth of cases; the majority entered in special education course for disabled children; only eleven cases were ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00269-8
更新日期：2001-11-01 00:00:00
abstract：:The objective of the present study was to evaluate sleeping position-dependent effects on cerebral hemodynamics during apnea in preterm infants. To this end, polygraphic studies were performed on 15 stable preterm infants lying prone and lying supine. Changes in cerebral blood volume (DeltaCBV) and in cerebral hemoglo...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(01)00245-5
更新日期：2001-10-01 00:00:00
abstract：:Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge o...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.04.004
更新日期：2015-11-01 00:00:00
abstract：:This is the first case report on the diagnosis of spinal cord injury due to hemorrhage during the neonatal period using magnetic resonance imaging (MRI). Somatosensory evoked potentials are also helpful in the functional demonstration of this lesion. When discrepant signs, alert consciousness and intact cranial nerves...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90114-7
更新日期：1994-01-01 00:00:00
abstract：BACKGROUND:Benign epilepsy with centrotemporal spikes is the most common partial epilepsy syndrome in children. The long-term prognosis for children with BECTS is believed to be generally excellent with seizures usually responding well to AEDs. The goal of the present study was to determine the risk factors associated ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.02.008
更新日期：2015-01-01 00:00:00
abstract：:The neuropathological examination of the brain of a 4-month-old girl with Aicardi syndrome (infantile spasms, chorioretinal lacunae, psychomotor retardation, agenesis of the corpus callosum and vertebral anomalies) showed agenesis of the corpus callosum, agenesis of the anterior commissure and abnormal orientation of ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80097-3
更新日期：1986-01-01 00:00:00
abstract：:Six boys affected by acquired encephalopathy with an abnormal breathing pattern in wakefulness were studied. Polygraphic recordings showed two different patterns in our population. In two brothers a periodic breathing pattern was recorded in the awake and sleep states. In the others, central apneas with or without tac...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80180-x
更新日期：1990-01-01 00:00:00
abstract：BACKGROUND:Carnitine deficiency is relatively common in epilepsy; risk factors reportedly include combination antiepileptic drug (AED) therapy with valproic acid (VPA), young age, intellectual disability, diet and enteral or parenteral feeding. Few studies have examined the correlation between each risk factor and carn...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.12.004
更新日期：2015-09-01 00:00:00
abstract：:Hypomelanosis of Ito (HI) is a neurocutaneous syndrome with multisystemic involvement. Its most frequent neurological abnormalities are mental retardation and seizures. EEG, CT and MRI findings are not characteristic enough to be diagnostic. In this report, we describe a patient with typical cutaneous lesions of HI an...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00101-8
更新日期：1996-01-01 00:00:00
abstract：BACKGROUND:Multifocal motor neuropathy (MMN) is an acquired immune-mediated form of neuropathy characterized by upper and asymmetric limb weakness without sensory loss. The mean age of onset is 40 years (range, 20-70 years), and childhood-onset MMN is extremely rare. In the present report, we discuss a case of childhoo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.08.013
更新日期：2020-01-01 00:00:00
abstract：OBJECTIVE:Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible appropriate treatments. METHODS:We recruited patients with pathogenic o...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.12.006
更新日期：2021-01-09 00:00:00
abstract：:We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MR...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.06.009
更新日期：2013-05-01 00:00:00
abstract：:A large body of experience has been compiled in different countries, documenting the efficacy of adenocorticotropic hormone (ACTH) for infantile spasms. This is important, because it may serve as a key for understanding this disorder, as well as for designing better medicines. However, significant discrepancies exist ...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00308-4
更新日期：2001-11-01 00:00:00
abstract：:A 10-year-old boy with psychomotor developmental delay and cerebellar vermis atrophy developed right hemiplegia with vomiting, unconsciousness, convulsions, and late-onset fever. Slow delta activity was noted over the left hemisphere on electroencephalography, and neuroimaging revealed swelling of the left temporo-occ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.11.002
更新日期：2012-09-01 00:00:00
abstract：:The present study was undertaken to clarify how we should assess the necessity of close follow-up in each case, when we first examine an infant with ankle clonus within the first year of life. The neurologic prognoses of 169 infants who had exhibited ankle clonus at least once during the first year of life were review...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(96)00069-1
更新日期：1997-01-01 00:00:00
abstract：:Cystic lesions of the posterior fossa remain a controversial subject as to clinical classification and diagnosis, especially for those in combination with other intracranial abnormalities. During the period of November 1985 to June 1991, 16 patients with cystic lesions of the posterior fossa were retrospectively revie...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00067-4
更新日期：1995-11-01 00:00:00
abstract：:The purpose of this study was (1) to document cases of Tourette syndrome (TS) with comorbidities such as obsessive-compulsive symptoms (OCS) and hyperkinetic disorder (HD), and (2) to examine differences in clinical characteristics between TS patients with OCS and HD and those without these comorbidities. The subjects...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.01.005
更新日期：2010-03-01 00:00:00
abstract：:Zonisamide is widely used for intractable epilepsy and the effects of this drug on fetuses and neonates through the mother taking it for epilepsy need to be clarified. We measured the zonisamide concentration in plasma and breast milk using high-performance liquid chromatography to investigate the transfer of zonisami...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00407-7
更新日期：2002-03-01 00:00:00
abstract：:The discovery of nerve growth factor (NGF) over 40 years ago led to the formulation of the "Neurotrophic Factor Hypothesis". This hypothesis states that developing neurons compete with each other for a limited supply of a neurotrophic factor (NTF) provided by the target tissue. Successful competitors survive; unsucces...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(96)00051-4
更新日期：1996-09-01 00:00:00
abstract：:The aim of this study was to evaluate respiratory function of severely handicapped children. Tidal volumes and respiratory rates were determined in a total of 130 children with different clinical motor abilities. Tidal volume of non-sitters (n = 39) was significantly lower than ambulators (n = 49) or sitters (n = 42) ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80067-2
更新日期：1990-01-01 00:00:00
abstract：:The syndrome of brain atrophy in girls described by Andreas Rett in 1966 [Rett, Wien Klin Wochenschr, 1966;116:723-726] was brought to the attention of the English-speaking world by Hagberg et al. in 1983 [Hagberg et al., Ann Neurol, 1983;14:471-479]. Four clinical stages after the age of 6 months were described in cl...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(01)00335-7
更新日期：2001-12-01 00:00:00
abstract：OBJECTIVES:To evaluate the outcome of ketogenic diets (KDs) in patients with glucose transport type 1 deficiency syndrome (GLUT1DS) in Japan. METHODS:A nationwide survey for GLUT1DS was conducted by sending questionnaires to board-certified pediatric neurologists nationwide to obtain clinical and laboratory data. RES...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.01.002
更新日期：2016-08-01 00:00:00
