Abstract：
OBJECTIVE:In order to evaluate whether face perception is intact or not in Williams syndrome (WS), the face inversion effects (FIE) in the event-related potential (ERP) or magnetoencephalography (MEG) were investigated in three teenaged patients with WS. METHODS:Responses to the inverted faces and upright faces were compared using MEG for one 13year old girl with WS (subject A) and ERP for boys with WS at 16 and 14years of age (subjects B and C, respectively). RESULTS:Although age-matched control children showed FIE in both MEG and ERP studies, two subjects (A and B) with WS showed no FIE at all. The neurophysiological data of ERP in subject B was significantly different from those of the age-matched controls. On the other hand, a boy with WS (subject C) showed typical FIE in the same manner as the age-matched controls. CONCLUSIONS:The difference between those with or without FIE was not explained merely by the chronological age, a simple delay in mental age or in the ability to discriminate among upright faces. The absence of FIE may be related to the severity of a deficit in the dorsal pathway function that is characteristic to the syndrome.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Nakamura M,Watanabe S,Inagaki M,Hirai M,Miki K,Honda Y,Kakigi Rdoi
10.1016/j.braindev.2012.05.010subject
Has Abstractpub_date
2013-04-01 00:00:00pages
323-30issue
4eissn
0387-7604issn
1872-7131pii
S0387-7604(12)00128-3journal_volume
35pub_type
杂志文章abstract：BACKGROUND:The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patien...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.06.004
更新日期：2018-01-01 00:00:00
abstract：:We previously reported that knockout mice lacking the p85alpha regulatory subunit of phosphoinositide-3 kinase (PI3K) (p85alpha(-/-) mice) significantly showed spatial learning-deficits, restlessness and motivation-deficit in water maze tests. It was also shown in the report that decline of PI3K activity in several br...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.04.006
更新日期：2009-01-01 00:00:00
abstract：:To clarify the characteristics of the mode of appearance and morphology of epileptiform discharges before the onset of West syndrome (WS). The subjects were 25 infants whose electroencephalograms (EEGs) were recorded before the onset of WS and whose first EEG was recorded before 6 months of corrected age (CA). We exte...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.04.004
更新日期：2007-11-01 00:00:00
abstract：:l-2-Hydroxyglutaric aciduria (l-2-HGA) is a rare inborn error of metabolism. Mainly, patients with this disorder exhibit neurological symptoms and characteristic neuroradiological findings, such as subcortical white matter abnormalities, which are believed to be caused by the toxicity of the accumulation of l-2-hydrox...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.04.012
更新日期：2016-01-01 00:00:00
abstract：PURPOSE:This study aimed to analyze the topological characteristics of brain structural network in pediatric epilepsy patients with vagus nerve stimulation (VNS) by applying graph theoretical approaches. METHODS:Nine patients with generalized seizures and eight normal controls (NC) were enrolled. Based on diffusion te...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.07.006
更新日期：2021-01-01 00:00:00
abstract：:Griscelli syndrome is a rare autosomal-recessive disorder characterised by partial albinism, immunodeficiency, organomegaly and accelerated phases. During accelerated phases, pancytopenia, haemophagocytosis, hypoproteinemeia occur which may be accompanied by neurological deterioration. Primary neurological presentatio...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.09.007
更新日期：2007-05-01 00:00:00
abstract：:Penicillin (PC) neurotoxicity (convulsions and encephalopathy) is considered to be due to GABAergic inhibition. The effects of penicillin G(PCG) on [3H]flunitrazepam (FNZ) binding in rat neuron-enriched primary cultures was examined to assess the role of the benzodiazepine (BDZ) receptor in the neurotoxicity. PCG appl...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(93)90121-n
更新日期：1993-09-01 00:00:00
abstract：PURPOSE:This study investigated the efficacy and safety of zonisamide (ZNS) adjunctive therapy in children with intractable epilepsy to existing antiepileptic drugs (AEDs). METHODS:A clinical retrospective study was performed from 2003 to 2005 at two tertiary epilepsy centers. We reviewed the data from 163 children (1...
journal_title：Brain & development
pub_type： 临床试验,杂志文章,多中心研究
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更新日期：2010-03-01 00:00:00
abstract：:This report describes a 60-year-old female patient with Krabbe disease who presented with slowly progressive gait disturbance due to mild spastic paraplegia. Brain magnetic resonance imaging showed high-intensity lesions along the upper parts of the bilateral pyramidal tracts in fluid-attenuated inversion recovery ima...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.08.004
更新日期：2013-06-01 00:00:00
abstract：:We report the pedigree of a family in which a mother and her two children, a boy and a girl, all suffer from a similar, though variably expressed cerebral disorder, seen on CT as uni- or bilateral cavities within the supratentorial white matter in communication with the ventricular system. Additional white matter hypo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80010-8
更新日期：1984-01-01 00:00:00
abstract：BACKGROUND:Cohen syndrome (CS) is a rare multi-system autosomal recessive disorder with a high prevalence in the Finnish population. Clinical features of Finnish-type CS are homogeneous, however, in non-Finnish populations, CS diagnosis is challenging due to broad phenotypic variability. METHODS:We studied a consangui...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.04.010
更新日期：2020-09-01 00:00:00
abstract：:Anti-muscle-specific tyrosine kinase antibody (MuSK-Ab) is the second most frequent autoantibody identified in adult patients with myasthenia gravis (MG). Adult patients with MuSK-Ab demonstrate characteristic clinical features but very little information is available for childhood-onset patients with MuSK-positive MG...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.12.014
更新日期：2012-10-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80299-3
更新日期：1991-01-01 00:00:00
abstract：:We report seizures induced by adrenocorticotropic hormone (ACTH), which were demonstrated clinically and electro-encephalographically, in a severely handicapped 7-month-old infant with West syndrome due to perinatal hypoxicischemic encephalopathy. Although tonic spasms (original seizures) decreased soon after starting...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80063-4
更新日期：1989-01-01 00:00:00
abstract：:Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.01.003
更新日期：2016-08-01 00:00:00
abstract：AIM:Cerebellar injury is a characteristic injury associated with preterm infants. However, the impact of cerebellar injury on the development of preterm infants is unclear. METHOD:We reviewed magnetic resonance image studies of preterm infants with cerebral palsy retrospectively and evaluated the developmental outcome...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.01.009
更新日期：2015-10-01 00:00:00
abstract：BACKGROUND:Epilepsy is a common chronic disorder in pediatric neurology. Nowadays, a variety of antiepileptic drugs (AEDs) are available. A scientific method designed to evaluate the effectiveness of AEDs in the early stage of treatment has not been reported. PURPOSE:In this study, we try to use quantitative EEG (QEEG...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.07.004
更新日期：2018-01-01 00:00:00
abstract：:This is the first study to report differences between Japanese children with and without dyslexia in the way string-length and lexicality effects are manifested when reading Japanese kana. These children were asked to read kana words and non-words consisting of either two or five kana characters. The results showed th...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.09.005
更新日期：2012-06-01 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：:Adrenocorticotropic hormone (ACTH) has been the first-line drug for the treatment of West syndrome, although the therapy has various adverse effects. ACTH depresses resistance to a variety of bacterial, viral, protozoal, and fungal agents. The timing of the various vaccinations is delayed after ACTH therapy in Japan, ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2008.11.007
更新日期：2009-11-01 00:00:00
abstract：:Autism spectrum disorders (ASD) are manifest as impairments in social interaction, language and speech development, and the appearance of repetitive behaviors with restricted interests. Motor impairments in individuals with ASD have been categorized as "associated symptoms". The objective of this study was to describe...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.03.002
更新日期：2007-10-01 00:00:00
abstract：:The developmental expression of monocyte chemoattractant protein-1 (MCP-1) in the cerebellum, medulla oblongata and pons was investigated in 26 normal human brains, ranging from 20 weeks of gestation (GW) to adulthood by means of an immunohistochemical method. Immunoreactivity to MCP-1 was observed in neurons of the c...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00065-5
更新日期：1999-01-01 00:00:00
abstract：:The abnormalities of intracranial hemodynamics associated with strokelike episodes in MELAS are variable depend on the time phase from the onset of strokelike episodes and on the progression of the dementia state. To clarify the regional cerebral blood flows (rCBF) in the natural course of MELAS is very important to u...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.06.008
更新日期：2008-02-01 00:00:00
abstract：:Patients with germline phosphatidylinositol glycan biosynthesis class A (PIGA) related disorder have historically been categorized into one of two distinct subtypes: a severe form which is often fatal, and a less severe form. However, the increasing number of cases with features indicative of both subtypes raise the p...
journal_title：Brain & development
pub_type：
doi：10.1016/j.braindev.2019.10.002
更新日期：2020-02-01 00:00:00
abstract：:The autopsy report of the juvenile type of metachromatic leukodystrophy is rare. The clinical and pathological difference between the juvenile and the late infantile type of metachromatic leukodystrophy was described. Loss of myelin sheaths was much less in the brain stem and spinal cord in the juvenile type than in t...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(81)80065-4
更新日期：1981-01-01 00:00:00
abstract：:Transmission of information in the brain is of a chemical nature. Neurotransmitters are present at very early stages of brain development, having trophic effects on maturation of target neurons as well as mediating the behavioral repertoire of the immature brain. Many centrally acting psychoactive drugs which are comm...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80058-4
更新日期：1986-01-01 00:00:00
abstract：AIMS:Abnormalities of gross motor function in children with autism are well known to clinicians but have not received much empirical documentation and, with the exception of stereotypies, are not among its diagnostic criteria. We recorded the characteristics of gait and prevalence of toe walking, the range of passive j...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.02.005
更新日期：2014-02-01 00:00:00
abstract：:A 14-year-old patient with a right parietal arteriovenous malformation presented with seizures characterized by metamorphopsia of faces. Unlike adults with right hemisphere pathology she performed like an age matched control on a task requiring recognition of unfamiliar faces. This likely reflects maturational changes...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80059-0
更新日期：1985-01-01 00:00:00
abstract：:Generalized lymphatic anomaly is a multifocal lymphatic malformation that affects the skin, thoracic viscera, and bones. A 3year-old Japanese boy presented with right facial palsy due to cystic tumors in the ipsilateral petrous bone. Pericardial effusion had been found incidentally and generalized lymphatic anomaly ha...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.12.007
更新日期：2017-05-01 00:00:00
abstract：:This trial sought to evaluate our experience using the antimigraine prophylactic drug, use of valproate for the prophylactic management of cyclic vomiting syndrome (CVS) in children. Thirteen children diagnosed with severe CVS were enrolled. Prophylactic therapy consisted of valproate administered at a dose of 10-40 m...
journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/j.braindev.2008.07.005
更新日期：2009-06-01 00:00:00
