Abstract：
:A 6-month-old girl developed West syndrome and it remitted in association with valproate-induced hepatic dysfunction. Plasma -alanine elevated after valproate hepatotoxicity, which seemed to be a possible cause of remission. The patient has been seizure-free with normal electroencephalogram for 12 months without any anticonvulsants. Her developmental milestones were within normal limits at the age of 18 months.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Go Tdoi
10.1016/s0387-7604(02)00037-2keywords:
subject
Has Abstractpub_date
2002-06-01 00:00:00pages
257-9issue
4eissn
0387-7604issn
1872-7131pii
S0387760402000372journal_volume
24pub_type
杂志文章abstract：AIM:We aimed to establish objective and quantitative data on fine motor development in typically developing children using magnetic sensors. METHODS:The study included 110 Japanese elementary school children volunteers (57 boys, 53 girls). The participants were instructed to tap their thumbs and index fingers together...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.03.004
更新日期：2020-06-01 00:00:00
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：: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：PURPOSE:We performed this study to evaluate the long-term efficacy and tolerability of ethosuximide (ESX), valproic acid (VPA), and lamotrigine (LTG) as initial monotherapies for patients with newly diagnosed childhood absence epilepsy. METHODS:We retrospectively reviewed the medical records of 128 patients (45 boys a...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.08.007
更新日期：2012-05-01 00:00:00
abstract：:We describe a clinical profile of a male with Rett syndrome who presented initially with significant axial and peripheral hypotonia, head and truncal titubation and global delay. He is non-ambulatory, lost the few words he had learned and gradually developed hand stereotypes, breathing difficulties, seizures, scoliosi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.03.018
更新日期：2005-11-01 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：:In a patient with holoprosencephaly, partial seizures had various initial ictal symptoms, and ictal EEGs showed epileptogenic foci in the right and left brain. Partial seizures did not culminate in secondary generalized tonic-clonic convulsions. Characteristic malformed structures contribute to the absence of secondar...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00217-0
更新日期：2001-07-01 00:00:00
abstract：:We describe two brothers with isolated Dandy-Walker malformation (DWM). Interestingly, brain stem dysgenesis and abnormal gyral pattern were also observed in the sibs. They presented with psychomotor retardation and macrocrania. Both suffered from hypotonia with brisk deep tendon reflexes and ataxic gait. They had bil...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.01.009
更新日期：2006-09-01 00:00:00
abstract：:We describe the first case of a successful functional hemispherectomy in a patient with epileptic encephalopathy and a de novo collagen type IV alpha 1 (COL4A1) mutation. A 4-year-old girl was COL4A1 mutation-positive and suffered from drug-resistant epilepsy, hemiplegia, and developmental delay. Magnetic resonance im...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2016.11.006
更新日期：2017-04-01 00:00:00
abstract：:Response inhibition is an attention function which develops relatively early during childhood. Behavioral data suggest that by the age of 3, children master the basic task requirements for the assessment of response inhibition but performance improves substantially until the age of 7. The neuronal mechanisms underlyin...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.11.006
更新日期：2013-11-01 00:00:00
abstract：BACKGROUND:Acute disseminated encephalomyelitis (ADEM) is clinically characterized by the acute onset of neurological symptoms after a viral infection or immunization, and is thought to represent an autoimmune disease directed against myelin. Tau protein is a phosphorylated microtubule-associated protein, primarily loc...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.11.013
更新日期：2014-01-01 00:00:00
abstract：:We investigated potential renal functional impairment induced by chronic use of anti-epileptic drugs (AEDs) in 79 epileptic children. They were divided into five groups: valproic acid (VPA) monotherapy where the serum concentration (SC) of VPA was no less than 60 micrograms/ml (VPA [SC > or = 60]) (15 cases), VPA mono...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90003-5
更新日期：1994-11-01 00:00:00
abstract：:Cerebral blood flow was assessed by ultrasound in 12 children with intractable epilepsy who were treated with ACTH. The average maximal blood velocity (A/L) and end-diastolic blood velocity (d) of the internal carotid artery were measured, before, during and after ACTH therapy in each subject. The right and left mean ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(85)80060-7
更新日期：1985-01-01 00:00:00
abstract：:Eighty participants (62 males; 18 females; age range: 6-16 years) took part in the study, comprising four groups of 20 subjects each: TS-only, ADHD-only, TS+ADHD, controls. The age distributions, did not differ significantly among the four groups. The severity of symptoms, assessed by the TSGS, did not differ signific...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2006.12.003
更新日期：2007-08-01 00:00:00
abstract：PURPOSE:To evaluate the incidence and clinical importance of brain gliomas - optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases ca...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2019.04.003
更新日期：2019-09-01 00:00:00
abstract：:We report on the clinical, neuropathological, and genetic findings of a Japanese case with myocerebrohepatopathy spectrum (MCHS) disorder due to polymerase gamma (POLG) mutations. A girl manifested poor sucking and failure to thrive since 4 months of age and had frequent vomiting and developmental regression at 5 mont...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.10.013
更新日期：2015-08-01 00:00:00
abstract：:Mutation of the gene for alpha-tocopherol transfer protein causes ataxia with isolated vitamin E deficiency, a disorder usually stabilized or improved after vitamin E supplementation. Dystonia has rarely been described in ataxia with isolated vitamin E deficiency (AVED) patients. We present the case of a young boy wit...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(03)00054-8
更新日期：2003-09-01 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：AIM:The prevalence of cerebral palsy (CP) has not decreased in developed countries over the past 30 years. We examined gestational age-specific trends in the prevalence of CP. METHODS:This unselected, population-based study was conducted in Miyazaki prefecture, Japan (10,000 deliveries annually), where 102,999 deliver...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.10.002
更新日期：2016-04-01 00:00:00
abstract：:A patient with adrenoleukodystrophy was successfully treated by means of intravenous gammaglobulin injections. The clinical symptoms, especially visual loss, were apparently relieved and no neurological deterioration was observed during a 18-month period following the start of the gammaglobulin treatment. ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80083-x
更新日期：1989-01-01 00:00:00
abstract：:Serial changes of MRI scanning of an 11-year-old boy with hemiparesis due to a germ cell tumor in the basal ganglia are presented. Initial brain MRI T1-weighted images revealed a subtle mixed signal intensity lesion at left anterior and posterior limbs of the internal capsule. This lesion was not enhanced with Gd-DTPA...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(93)90024-3
更新日期：1993-07-01 00:00:00
abstract：:Moyamoya syndrome is a chronic, progressive occlusion of cerebrovascular arteries that leads to the development of characteristic collateral vessels. It is usually accompanied with sickle cell disease and other hemoglobinopathies. We report a 7-year-old boy, who admitted to our clinic with headache, diagnosed as moyam...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.07.010
更新日期：2014-06-01 00:00:00
abstract：:Apoptosis is a highly conservative energy demand program for non-inflammatory cell death, which is extremely significant in normal physiology and disease. There are many techniques used for studying apoptosis. MicroRNA (miRNA) is closely related to cell apoptosis, and especially microRNA-31 (miR-31) is involved in apo...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2019.04.010
更新日期：2019-09-01 00:00:00
abstract：BACKGROUND:Hypophosphatasia (HPP) is a rare genetic disorder characterized by rachitic bone manifestations and a low serum alkaline phosphatase (ALP) level. It is caused by mutations in the tissue non-specific alkaline phosphatase (TNSALP) gene, which encodes the tissue non-specific isozyme of ALP. HPP patients exhibit...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.07.015
更新日期：2018-02-01 00:00:00
abstract：:Forty-eight subjects with Tourette syndrome (M 36, F 12; mean age 11.2 years) and 48 with chronic tic disorder (M 33, F 15; mean age 12.1 years) were recruited in order to study the vertical transmission within families of a vulnerability to tic disorders or to other psychiatric disorders, the role of adverse pre- and...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.09.007
更新日期：2005-08-01 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：: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：OBJECTIVE:The aim of this study was to develop and introduce new method to quantify motor functions of the upper extremity. METHODS:The movement was recorded using a three-dimensional motion capture system, and the movement trajectory was analyzed using newly developed two indices, which measure precise repeatability ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.12.003
更新日期：2018-03-01 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：BACKGROUND:Congenital hypothyroidism is the most common reason of mental retardation, and normal neurological development can be provided by early and effective treatment. In this present study, it is aimed to compare neurological developments of patients in 6-42 months of age with congenital hypothyroidism and healthy...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.07.003
更新日期：2013-05-01 00:00:00
