Remission of West syndrome associated with valproate hepatotoxicity.


: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.


Brain Dev


Brain & development


Go T





Has Abstract


2002-06-01 00:00:00














  • Quantitative assessment of fine motor skills in children using magnetic sensors.

    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


    authors: Enokizono T,Ohto T,Tanaka M,Maruo K,Sano Y,Kandori A,Takada H

    更新日期:2020-06-01 00:00:00

  • Autoantibodies against neuronal progenitors in sera from children with autism.

    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


    authors: Mazur-Kolecka B,Cohen IL,Gonzalez M,Jenkins EC,Kaczmarski W,Brown WT,Flory M,Frackowiak J

    更新日期:2014-04-01 00:00:00

  • Pathophysiology of Rett syndrome from the stand point of clinical characteristics.

    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


    authors: Segawa M

    更新日期:2001-12-01 00:00:00

  • Long-term effectiveness of ethosuximide, valproic acid, and lamotrigine in childhood absence epilepsy.

    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


    authors: Hwang H,Kim H,Kim SH,Kim SH,Lim BC,Chae JH,Choi JE,Kim KJ,Hwang YS

    更新日期:2012-05-01 00:00:00

  • Clinical profile of a male with Rett syndrome.

    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


    authors: Budden SS,Dorsey HC,Steiner RD

    更新日期:2005-11-01 00:00:00

  • A Golgi study of the polymicrogyric cortex in Aicardi syndrome.

    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


    authors: Ferrer I,Cusí MV,Liarte A,Campistol J

    更新日期:1986-01-01 00:00:00

  • Epileptic seizures and structural abnormalities in a patient with holoprosencephaly.

    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


    authors: Takahashi S,Takahashi Y,Kondo N,Orii T

    更新日期:2001-07-01 00:00:00

  • Isolated Dandy-Walker malformation associated with brain stem dysgenesis in male sibs.

    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


    authors: Abdel-Salam GM,Shehab M,Zaki MS

    更新日期:2006-09-01 00:00:00

  • Dramatic response after functional hemispherectomy in a patient with epileptic encephalopathy carrying a de novo COL4A1 mutation.

    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


    authors: Hino-Fukuyo N,Kikuchi A,Iwasaki M,Sato Y,Kubota Y,Kobayashi T,Nakayama T,Haginoya K,Arai-Ichinoi N,Niihori T,Sato R,Suzuki T,Kudo H,Funayama R,Nakayama K,Aoki Y,Kure S

    更新日期:2017-04-01 00:00:00

  • Developmental changes in brain activation and functional connectivity during response inhibition in the early childhood brain.

    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


    authors: Mehnert J,Akhrif A,Telkemeyer S,Rossi S,Schmitz CH,Steinbrink J,Wartenburger I,Obrig H,Neufang S

    更新日期:2013-11-01 00:00:00

  • Tau protein concentrations in the cerebrospinal fluid of children with acute disseminated encephalomyelitis.

    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


    authors: Oka M,Hasegawa S,Matsushige T,Inoue H,Kajimoto M,Ishikawa N,Isumi H,Ichiyama T

    更新日期:2014-01-01 00:00:00

  • Urinary N-acetyl-beta-glucosaminidase and guanidinoacetic acid levels in epileptic patients treated with anti-epileptic drugs.

    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


    authors: Otsuka T,Sunaga Y,Hikima A

    更新日期:1994-11-01 00:00:00

  • The effect of ACTH on cerebral blood flow in children with intractable epilepsy.

    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


    authors: Futagi Y,Abe J

    更新日期:1985-01-01 00:00:00

  • Disentangling the effects of Tourette syndrome and attention deficit hyperactivity disorder on cognitive and behavioral phenotypes.

    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


    authors: Rizzo R,Curatolo P,Gulisano M,Virzì M,Arpino C,Robertson MM

    更新日期:2007-08-01 00:00:00

  • Brain gliomas, hydrocephalus and idiopathic aqueduct stenosis in children with neurofibromatosis type 1.

    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


    authors: Glombova M,Petrak B,Lisy J,Zamecnik J,Sumerauer D,Liby P

    更新日期:2019-09-01 00:00:00

  • Myocerebrohepatopathy spectrum disorder due to POLG mutations: A clinicopathological report.

    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


    authors: Montassir H,Maegaki Y,Murayama K,Yamazaki T,Kohda M,Ohtake A,Iwasa H,Yatsuka Y,Okazaki Y,Sugiura C,Nagata I,Toyoshima M,Saito Y,Itoh M,Nishino I,Ohno K

    更新日期:2015-08-01 00:00:00

  • Ataxia with vitamin E deficiency and severe dystonia: report of a case.

    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


    authors: Roubertie A,Biolsi B,Rivier F,Humbertclaude V,Cheminal R,Echenne B

    更新日期:2003-09-01 00:00:00

  • Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.

    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


    authors: Di Meglio C,Bonello-Palot N,Boulay C,Milh M,Ovaert C,Levy N,Chabrol B

    更新日期:2016-05-01 00:00:00

  • Temporal trends in perinatal mortality and cerebral palsy: A regional population-based study in southern Japan.

    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


    authors: Kodama Y,Sameshima H,Ikenoue T

    更新日期:2016-04-01 00:00:00

  • Clinical improvement of adrenoleukodystrophy following intravenous gammaglobulin therapy.

    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


    authors: Miike T,Taku K,Tamura T,Ohta J,Ozaki M,Yamamoto C,Sakai T,Antoku Y,Yadomi C

    更新日期:1989-01-01 00:00:00

  • Sequential MRI findings in a patient with a germ cell tumor in the basal ganglia.

    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


    authors: Takano T,Matsui E,Yamano T,Shimada M,Nakasu Y,Handa J

    更新日期:1993-07-01 00:00:00

  • Moyamoya syndrome associated with sickle cell trait in a child.

    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


    authors: Komur M,Unal S,Okuyaz C,Ozgur A

    更新日期:2014-06-01 00:00:00

  • MicroRNA-31 regulating apoptosis by mediating the phosphatidylinositol-3 kinase/protein kinase B signaling pathway in treatment of spinal cord injury.

    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


    authors: Wang Y,Yuan Y,Gao Y,Li X,Tian F,Liu F,Du R,Li P,Wang F,Xu S,Wu X,Wang C

    更新日期:2019-09-01 00:00:00

  • Infantile hypophosphatasia combined with vitamin B6-responsive seizures and reticular formation lesions on magnetic resonance imaging: A case report.

    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


    authors: Fukazawa M,Tezuka J,Sasazuki M,Masumoto N,Baba H,Doi T,Tsutsumi Y,Mizuno Y,Mihara F,Nakayama H

    更新日期:2018-02-01 00:00:00

  • Tourette syndrome and chronic tics in a sample of children and adolescents.

    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


    authors: Saccomani L,Fabiana V,Manuela B,Giambattista R

    更新日期:2005-08-01 00:00:00

  • Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions.

    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



    authors: Tang LO,Hou BH,Zhang XN,Xi ZY,Li CX,Xu L

    更新日期:2021-02-01 00:00:00

  • Clinicopathological differences between juvenile and late infantile metachromatic leukodystrophy.

    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


    authors: Takashima S,Matsui A,Fujii Y,Nakamura H

    更新日期:1981-01-01 00:00:00

  • New quantitative method for evaluation of motor functions applicable to spinal muscular atrophy.

    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


    authors: Matsumaru N,Hattori R,Ichinomiya T,Tsukamoto K,Kato Z

    更新日期:2018-03-01 00:00:00

  • Developmental expression of monocyte chemoattractant protein-1 in the human cerebellum and brainstem.

    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


    authors: Meng SZ,Oka A,Takashima S

    更新日期:1999-01-01 00:00:00

  • Neurodevelopment evaluation in children with congenital hypothyroidism by Bayley-III.

    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


    authors: Komur M,Ozen S,Okuyaz C,Makharoblıdze K,Erdogan S

    更新日期:2013-05-01 00:00:00