Abstract:
:The abnormal patterns of cerebral convolutions range from severe to small anomalies restricted to tertiary gyri and sulci. Lesions within Glial-Pial barrier were found in examined cases with cortical developmental abnormalities. Anomalies and impaired function of vessels penetrating the cortex from meningeal plexus coexisted often with Glial-Pial barrier lesions. We are able to say that our cases constitute a group of graded changes demonstrating that both observed developmental lesions vascular and/or Glial-Pial barrier damage may result in cortical anomalies. Their formation and character depend on the stage of cortical maturation when analyzed lesions occur.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Dambska M,Laure-Kamionowska Mdoi
10.1016/s0387-7604(01)00215-7keywords:
subject
Has Abstractpub_date
2001-07-01 00:00:00pages
223-7issue
4eissn
0387-7604issn
1872-7131pii
S0387760401002157journal_volume
23pub_type
杂志文章abstract::The pathological role of autoantibodies in development of CNS disorders is a new idea with growing interest among neuroscientists. The involvement of autoimmune response in the pathogenesis of autism spectrum disorders (ASD) has been suggested by the presence of multiple brain-specific autoantibodies in children with ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.04.015
更新日期:2014-04-01 00:00:00
abstract::Microdeletions in the 1q44 region encompassing the HNRNPU gene have been associated with infantile spasms and hemiconvulsion-hemiplegia-epilepsy syndrome. Recent studies have revealed that heterozygous HNRNPU variants resulted in early onset epilepsy and severe intellectual disability. A de novo frameshift mutation in...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.05.010
更新日期:2018-10-01 00:00:00
abstract:PURPOSE:To assess the efficacy of diazepam suppositories at preventing febrile seizure recurrence during a single febrile illness to determine how to treat children with a febrile seizure on presentation at the hospital. METHODS:We studied 203 children with febrile seizures from December 2004 through March 2006. On ad...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/j.braindev.2008.07.010
更新日期:2009-06-01 00:00:00
abstract::Event-related potential (ERP) studies with infants are often limited by a small number of measurements. We introduce a weighted general linear mixed model analysis with a time-varying covariate, which allows for the efficient analysis of all available event-related potential data of infants. This method allows control...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.04.001
更新日期:2010-04-01 00:00:00
abstract::The aim of this study is to reveal detailed clinical manifestations and an evolution of ictal EEG discharges of convulsions with mild gastroenteritis (CwG). We recorded ictal EEGs of six patients with CwG. Clinical manifestations included loss of responsiveness, motion arrest, cyanosis, lateral eye deviation, and hemi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.06.002
更新日期:2007-01-01 00:00:00
abstract::A 10-year-old male patient, who had suffered from intractable convulsions from the neonatal period, is presented. Serial brain images suggested slow, gradual destruction of neural elements. Human cytomegalovirus (HCMV) DNA was detected in his cerebrospinal fluid (CSF) by means of the polymerase chain reaction. Intrath...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(93)90086-n
更新日期:1993-11-01 00:00:00
abstract::Mutations of the gene encoding the alpha2 subunit of the neuronal sodium channel, SCN2A, have been found in benign familial neonatal-infantile seizures (BFNIS). In Dravet syndrome, only one nonsense mutation of SCN2A was identified, while hundreds of mutations were found in the paralogue gene, SCN1A, which encodes the...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.08.009
更新日期:2009-11-01 00:00:00
abstract::The authors report a case of early infantile epileptic encephalopathy (EIEE) associated with hemimegalencephaly. The etiological factors in previously published cases of EIEE are reviewed and attention is focused on the high proportion of cases associated with neuronal migration disorders. We suggest that idiopathic c...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(12)80356-1
更新日期:1992-11-01 00:00:00
abstract::Mutations in the mitochondrial tRNAMet gene have been reported in only five patients to date, all of whom presented with muscle weakness and exercise intolerance as signs of myopathy. We herein report the case of a 12-year-old girl with focal epilepsy since the age of eight years. At age 11, the patient developed sudd...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.01.006
更新日期:2019-05-01 00:00:00
abstract::Thirty-one epileptic patients, selected from among 900 children with previous febrile convulsions and subsequent epilepsy, were typed for HLA antigens. In 16 of the 31 patients CMV was isolated from the urine shortly after the appearance of spontaneous fits; in the remaining 15 patients the virus was never detected. A...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80008-1
更新日期:1988-01-01 00:00:00
abstract::We evaluated brain lesions in patients with coronary arterial lesions (CAL) as a complication of Kawasaki disease (KD) by magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA). Among 47 patients who underwent coronary angiography for the evaluation of CAL due to KD at Kyushu University Hospital fro...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.04.003
更新日期:2006-01-01 00:00:00
abstract:OBJECTIVE:Autonomic nervous system activity is recognized as a major component of emotional responses. Future reward/punishment expectations depend upon the process of decision making in the frontal lobe, which is considered to play an important role in executive function. The aim of this study was to investigate the r...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.03.004
更新日期:2017-08-01 00:00:00
abstract::A case of a Reye-like syndrome during the course of treatment with VPA was reported. Hyperammonemia and severe liver damage as well as diffuse small droplets in the liver biopsy material were demonstrated. On analysis by gas chromatography/mass spectrometry of the urine immediately after the onset, the metabolites of ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(83)80029-1
更新日期:1983-01-01 00:00:00
abstract::In this report, we reviewed the characteristics of motor development and motor symptoms of Rett Syndrome (RTT) and demarcated the early and pathognomonic motor symptom which correlates to the impairment of the higher cortical function (HCF) assessed by the ability of language. It is suggested that failure of locomotio...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(01)00352-7
更新日期:2001-12-01 00:00:00
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 c...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.05.010
更新日期:2013-04-01 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::Tourette's syndrome is manifested in a broad spectrum of motor, vocal, and behavioral disturbances. Movement disorders, such as tics, may contribute to the development of cervical myelopathy owing to the effects of involuntary movements on the neck. However, the association of cervical myelopathy with motor tics of th...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.05.009
更新日期:2007-03-01 00:00:00
abstract:PURPOSE:Benign Childhood Epilepsy with Centrotemporal Spikes (BCECTS) is the most common childhood idiopathic focal epilepsy with a good outcome. However, an increasing number of reports suggest a 'not so benign' outcome showing atypical evolution. METHODS:We analyzed the electroencephalographic (EEG) spike source dip...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.06.001
更新日期:2016-11-01 00:00:00
abstract::Learning disorders of various types are relatively common, and the reaction of the affected child can lead to social problems. The higher the children's intelligence the more frustrated they can become. Lack of self-esteem can cause unacceptable behaviour in trying to counteract this, and boost the child's confidence....
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/0387-7604(93)90060-l
更新日期:1993-05-01 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:INTRODUCTION:The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2) with early onset. This gene is involved in typical CMT2A and in more atypical phenotypes as optic atrophy or spastic paraplegia. CMT2 r...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2015.11.006
更新日期:2016-05-01 00:00:00
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 g...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80066-3
更新日期:1986-01-01 00:00:00
abstract:OBJECTIVE:To analyze the electroclinical features of children with childhood absence epilepsy (CAE) and discuss the diagnostic criteria for CAE. METHODS:The video-electroencephalogram (VEEG) database in our hospital was searched using "absence seizures" and "3-Hz generalized spike and waves (GSW)" as key-words. Other ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.02.004
更新日期:2011-02-01 00:00:00
abstract:OBJECTIVE:To investigate the clinical and neurophysiological characteristics, particularly therapeutic considerations, of epileptic negative myoclonus (ENM) in atypical benign partial epilepsy (ABPE) of childhood. METHODS:From 1998 to 2006, 14/242 patients with benign children epilepsy with centrotemporal spikes (BECT...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.04.004
更新日期:2009-04-01 00:00:00
abstract::Seventeen normal term infants delivered at the Jikei University School of Medicine were placed daily on a pedoscope in the supine and prone position after birth, and the movement of the gravity center and changes in the activities of the extremities were assessed. The results indicated that both the activity of the ex...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80118-8
更新日期:1986-01-01 00:00:00
abstract:BACKGROUND:ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. METHODS:We studied a family with a 13-year old Chinese boy and his two elder brothers presented with infantile epileptic-dyskinetic encephalopathy and clarified the unknow...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2019.07.003
更新日期:2019-11-01 00:00:00
abstract:OBJECTIVE:This study was conducted to describe the natural course of tic disorders over a long period of time in Japanese adults patients with Tourette's syndrome (TS) in terms of symptomatology. METHODS:An extensive literature on TS cases was reviewed selectively and 31 TS patients (mean age: 31.4 years; sex: 28 male...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(03)90006-4
更新日期:2003-12-01 00:00:00
abstract::Congenital neuromuscular disease with uniform type 1 fibers is a rare form of congenital nonprogressive myopathy. We report a 3-year-old boy with this disease who showed delayed motor developmental milestones and recurrent acute respiratory failure. He obtained head control at 16 months, crawled at 17 months and sat a...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2005.06.008
更新日期:2006-04-01 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::Brain magnetic resonance spectroscopy (MRS) and diffusion tensor imaging (DTI) in one patient with merosin-deficient congenital muscular dystrophy (MDCMD) revealed significant metabolite (choline, creatine, N-acetyl aspartate) level reductions, fractional anisotropy (FA) reduction and increased apparent diffusion coef...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.10.004
更新日期:2007-06-01 00:00:00