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

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

authors： Tohda C,Nakanishi R,Kadowaki M

更新日期：2009-01-01 00:00:00

abstract：:Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Seizures are frequent symptom in inborn errors of metabolism, with no specific seizure types or EEG signature...

journal_title：Brain & development

authors： Papetti L,Parisi P,Leuzzi V,Nardecchia F,Nicita F,Ursitti F,Marra F,Paolino MC,Spalice A

更新日期：2013-10-01 00:00:00

abstract：:A research committee supported by the Japanese government conducted a nationwide survey on the epidemiology of acute encephalopathy in Japan using a questionnaire. A total of 983 cases reportedly had acute encephalopathy during the past 3 years, 2007-2010. Among the pathogens of the preceding infection, influenza viru...

journal_title：Brain & development

authors： Hoshino A,Saitoh M,Oka A,Okumura A,Kubota M,Saito Y,Takanashi J,Hirose S,Yamagata T,Yamanouchi H,Mizuguchi M

更新日期：2012-05-01 00:00:00

abstract：:Although hypothalamic hamartomas (HHs) have been shown to be intrinsically epileptogenic and to participate in the generation of gelastic seizures, no evidence has been reported regarding its contribution to the pathogenesis of infantile spasms. We describe a male infant with Pallister-Hall syndrome who had a large HH...

journal_title：Brain & development

authors： Wakamoto H,Sumi A,Motoki T,Ohmori H

更新日期：2010-09-01 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

authors： Sijens PE,Fock JM,Meiners LC,Potze JH,Irwan R,Oudkerk M

更新日期：2007-06-01 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

authors： Budden SS,Dorsey HC,Steiner RD

更新日期：2005-11-01 00:00:00

abstract：INTRODUCTION:Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common subtype of acute encephalopathy among children in Japan. The pathogenesis of AESD is mostly delayed cerebral edema caused by excitotoxic injury. It is difficult to discriminate AESD and complex febrile seizure ...

journal_title：Brain & development

authors： Yokochi T,Takeuchi T,Mukai J,Akita Y,Nagai K,Obu K,Kakuma T,Matsuishi T

更新日期：2016-02-01 00:00:00

abstract：:Congenital cerebellar ataxia is usually thought to be of cerebellar origin. We report two children with congenital cerebellar ataxia, in whom neuroimaging investigations suggest the possibility of a parietal etiology. The two boys showed hypotonia, delayed motor and cognitive development followed by marked, truncally ...

journal_title：Brain & development

authors： Steinlin M,Schmitt B,Ferrini B

更新日期：1998-06-01 00:00:00

abstract：:We present the clinical and neuropathological findings in a female patient with early onset Cockayne syndrome and a chromosomal anomaly (47XXX). The girl was the only child of healthy, unrelated parents. She was born with a birth weight of 1,930 gm. She had progeroid facial features with bilateral cataracts. A diagnos...

journal_title：Brain & development

authors： Hayashi M,Hayakawa K,Suzuki F,Sugita K,Satoh J,Morimatsu Y

更新日期：1992-01-01 00:00:00

abstract：PURPOSE:We studied children younger than 6years old who developed catastrophic epilepsy and were registered in the FACE study group to clarify their clinical characteristics and prevalence of seizure as well as epilepsy types. SUBJECTS:Subjects were prospectively recruited from children with epilepsy who satisfied the...

journal_title：Brain & development

authors： Oguni H,Otsuki T,Kobayashi K,Inoue Y,Watanabe E,Sugai K,Takahashi A,Hirose S,Kameyama S,Yamamoto H,Hamano S,Baba K,Baba H,Hong SC,Kim HD,Kang HC,Luan G,Wong TT

更新日期：2013-09-01 00:00:00

abstract：INTRODUCTION:Filamin A (FLNA) is located in Xq28, and encodes the actin binding protein, filamin A. A mutation in FLNA is the most common cause of periventricular nodular heterotopia (PVNH), but a clear phenotype-genotype correlation has not been established. Indeed, some patients with a FLNA mutation have recently bee...

journal_title：Brain & development

authors： Ieda D,Hori I,Nakamura Y,Ohshita H,Negishi Y,Shinohara T,Hattori A,Kato T,Inukai S,Kitamura K,Kawai T,Ohara O,Kunishima S,Saitoh S

更新日期：2018-06-01 00:00:00

abstract：BACKGROUND:Rett syndrome is a severe genetic neurodevelopmental disorder mainly affecting females. The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome. METHODS:To assess pubertal trajectory we used six waves of data provided by parents of girls and wome...

journal_title：Brain & development

authors： Knight O,Bebbington A,Siafarikas A,Woodhead H,Girdler S,Leonard H

更新日期：2013-11-01 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

authors： Iannetti P,Morellini M,Raucci U,Cappellacci S

更新日期：1988-01-01 00:00:00

abstract：:Although a large amount of cholesterol is known to be needed for brain maturation and differentiation, cholesterol metabolism during these periods remains unclear. To elucidate the developmental regulation of cholesterol metabolism in the brain, we investigated the expression of 3-hydroxy-3-methyglutaryl-coenzyme A (H...

journal_title：Brain & development

authors： Hanaka S,Abe T,Itakura H,Matsumoto A

更新日期：2000-08-01 00:00:00

abstract：:To determine whether or not dystrophin really exists in the outer plexiform layer (OPL) of the retina, we studied control and mdx mice, using four kinds of polyclonal antibodies (DMDP-II, 60 kd, 30 kd and DMDP-IV) against dystrophin. Although control OPL showed a positive immunohistochemical reaction with all four ant...

journal_title：Brain & development

authors： Zhao J,Uchino M,Yoshioka K,Miyatake M,Miike T

更新日期：1991-01-01 00:00:00

abstract：:Glutamic acid decarboxylase (GAD) activity in the cerebrospinal fluid (CSF) of normal infants (n:14) and children (n:28) was determined by measuring the amount of 14CO2 released from L-[1-14C]-glutamic acid. The mean GAD activity in CSF of infants and children was 5.2 +/- 2.5 pmol CO2 formed/hr/ml. Dividing these subj...

journal_title：Brain & development

authors： Tada H

更新日期：1983-01-01 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

authors： Hosaka H,Aoyagi K,Kaga Y,Kanemura H,Sugita K,Aihara M

更新日期：2017-08-01 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

authors： Fukushima J,Hatta T,Fukushima K

更新日期：2000-05-01 00:00:00

abstract：:Van der Knaap disease, characterized by megalencephalic leukoencephalopathy and subcortical cysts, is a rare and recently defined condition. We discuss here the MR image (MRI) and MR spectroscopy (MRS) features in a 30-year-old man with S93L homozygous mutation in the MLC1 gene. MRI demonstrated high intensity diffuse...

journal_title：Brain & development

authors： Morita H,Imamura A,Matsuo N,Tatebayashi K,Omoya K,Takahashi Y,Tsujino S

更新日期：2006-08-01 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

authors： Kohyama J,Suzuki N,Kajiwara M,Shimohira M,Iwakawa Y

更新日期：1993-11-01 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

authors： Dunn HG

更新日期：2001-12-01 00:00:00

abstract：:A family in which three siblings were affected with severe cerebral malformations in association with ocular anomalies and muscle disease is reported. One sibling was diagnosed as having Fukuyama type congenital muscular dystrophy (FCMD) because he showed severe hypotonia with dystrophic findings on a muscle biopsy in...

journal_title：Brain & development

authors： Yoshioka M,Kuroki S,Nigami H,Kawai T,Nakamura H

更新日期：1992-09-01 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

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

更新日期：2005-08-01 00:00:00

abstract：OBJECTIVE:Spontaneous movements at 2 months of corrected age in preterm infants with intellectual disability (ID) were investigated by assessing individual motor elements separated from movements involving the entire body. METHODS:Video recordings of 20 preterm infants with ID (16 males, 4 females; median gestational ...

journal_title：Brain & development

authors： Kouwaki M,Yokochi M,Kamiya T,Yokochi K

更新日期：2014-08-01 00:00:00

abstract：:Aims of our study were to describe the early clinical features of Dravet syndrome (SMEI) and the neurological, cognitive and behavioral outcome. The clinical history of 37 patients with clinical diagnosis of SMEI, associated with a point mutation of SCN1A gene in 84% of cases, were reviewed with particular attention t...

journal_title：Brain & development

authors： Ragona F,Brazzo D,De Giorgi I,Morbi M,Freri E,Teutonico F,Gennaro E,Zara F,Binelli S,Veggiotti P,Granata T

更新日期：2010-01-01 00:00:00

abstract：OBJECTIVES:To explore the relationship between autistic regression (AR) with and without EEG abnormalities and favourable outcome. METHODS:Follow up data on children with favourable outcome in a series of 534 cases aged below 5 years and diagnosed as ASD. RESULTS:Cases with regression were 167 (31.8%), usually with p...

journal_title：Brain & development

authors： Zappella M

更新日期：2010-10-01 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

authors： Sakamoto HM,Yoshioka M,Tsuji M,Kuroki S,Higuchi Y,Nonaka I,Nishino I

更新日期：2006-04-01 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

authors： Rajadhyax M,Neti G,Crow Y,Tyagi A

更新日期：2007-05-01 00:00:00

abstract：:Recent postmortem studies have suggested that sudden infant death syndrome (SIDS) might involve an underlying, gradual brain stem injury caused by repeated episodes of transiently compromised brain stem circulation. Autopsy studies have also reported that vertebral artery occlusion due to head rotations, such as occur...

journal_title：Brain & development

authors： Vanhatalo S,Nikolajev K,Kiekara O,Seuri R,Riikonen R

更新日期：2003-08-01 00:00:00

abstract：:The electroencephalographic features and their evolutional changes with age were described in three cases of lissencephaly syndrome diagnosed by CT scan. The case with more severe lissencephaly displayed very similar EEG findings. In early or middle infancy when infantile spasms began, EEG showed very high amplitude (...

journal_title：Brain & development

authors： Hakamada S,Watanabe K,Hara K,Miyazaki S

更新日期：1979-01-01 00:00:00