abstract：:We report sibling cases of aromatic L-amino acid decarboxylase (AADC) deficiency, which is a very rare congenital metabolic disorder. These patients were born to healthy and non-consanguineous parents, and presented oculogyric crises, paroxysmal dystonic attacks, and severe psychomotor retardation since early infancy....

journal_title：Brain & development

authors： Ide S,Sasaki M,Kato M,Shiihara T,Kinoshita S,Takahashi JY,Goto Y

更新日期：2010-06-01 00:00:00

abstract：:21-hydroxylase deficiency is the most common cause of congenital adrenal hyperplasia, an autosomal recessive disorder characterized by impaired synthesis of cortisol from cholesterol by the adrenal cortex. Subclinical involvement of brain white matter has been reported in subjects with congenital adrenal hyperplasia. ...

journal_title：Brain & development

authors： Gaudiano C,Malandrini A,Pollazzon M,Murru S,Mari F,Renieri A,Federico A

更新日期：2010-05-01 00:00:00

abstract：:Glucose transporter type I deficiency syndrome (GLUT-1 DS) is an inborn error of glucose transport characterized by seizures, developmental delay, spasticity, acquired microcephaly and ataxia. Diagnosis is based on the finding of low cerebrospinal fluid glucose, in the absence of hypoglycemia, and identification of GL...

journal_title：Brain & development

authors： Veggiotti P,Teutonico F,Alfei E,Nardocci N,Zorzi G,Tagliabue A,De Giorgis V,Balottin U

更新日期：2010-05-01 00:00:00

abstract：BACKGROUND:The majority of spinal muscular atrophy (SMA) patients showed homozygous deletion or other mutations of SMN1. However, the genetic etiology of a significant number of SMA patients has not been clarified. Recently, mutation in the gene underlying cat SMA, limb expression 1 (LIX1), has been reported. Similarit...

journal_title：Brain & development

authors： Sasongko TH,Gunadi,Yusoff S,Atif AB,Fatemeh H,Rani A,Marini M,Ab Aziz CB,Zabidi-Hussin ZA,Nishio H,Zilfalil BA

更新日期：2010-05-01 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

authors： Stahl D,Parise E,Hoehl S,Striano T

更新日期：2010-04-01 00:00:00

abstract：:We report the case of an 11-year-old girl who developed slowly progressive atrophy of the left lower extremity. She suffered from mild dilated cardiomyopathy of unknown cause since 4years of age. When she was 7years old, her family noticed that her left extremity was thinner compared to the right one. Computed tomogra...

journal_title：Brain & development

authors： Miyahara-Katayama A,Ohya Y,Omi T,Komaki H,Nonaka I,Sato N,Sasaki M

更新日期：2010-04-01 00:00:00

abstract：:Cerebral palsy (CP) is a group of movement and posture disorders attributed to insults in the developing brain. In rats, CP-like motor deficits can be induced by early hind-limb sensorimotor restriction (SR; from postnatal days P2 to P28), associated or otherwise with perinatal anoxia (PA; on P0 and P1). In this study...

journal_title：Brain & development

authors： Marcuzzo S,Dutra MF,Stigger F,do Nascimento PS,Ilha J,Kalil-Gaspar PI,Achaval M

更新日期：2010-04-01 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

authors： Lee YJ,Kang HC,Seo JH,Lee JS,Kim HD

更新日期：2010-03-01 00:00:00

abstract：UNLABELLED:X-linked adenoleukodystrophy is a genetic disease that affects the degradation of very long-chain fatty acids. In male patients, common pictures are the cerebral form (CALD), myeloneuropathy (AMN), and Addison-only. OBJECTIVE:To describe the clinical course of affected male patients from South Brazil betwee...

journal_title：Brain & development

authors： Jardim LB,da Silva AC,Blank D,Villanueva MM,Renck L,Costa ML,Vargas CR,Deon M,Coelho Dl,Vedolin L,de Castro CG Jr,Gregianin L,Bonfim C,Giugliani R

更新日期：2010-03-01 00:00:00

abstract：:We report a 22-year-old male patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. Standard cytogenetic analysis revealed a de novo interstitial duplication of the short arm of chromosome 11 (11p). High density array-CGH analysis showed that the rearrangement spans about 35Mb on chromosome 11p1...

journal_title：Brain & development

authors： Coppola A,Striano P,Gimelli S,Ciampa C,Santulli L,Caranci F,Zuffardi O,Gimelli G,Striano S,Zara F

更新日期：2010-03-01 00:00:00

abstract：:The purpose of this study was (1) to document cases of Tourette syndrome (TS) with comorbidities such as obsessive-compulsive symptoms (OCS) and hyperkinetic disorder (HD), and (2) to examine differences in clinical characteristics between TS patients with OCS and HD and those without these comorbidities. The subjects...

journal_title：Brain & development

authors： Kano Y,Ohta M,Nagai Y,Scahill L

更新日期：2010-03-01 00:00:00

abstract：INTRODUCTION:Primary generalized dystonia is a rare movement disorder. Medical treatment rarely relieves symptoms. The aim of this study was to investigate the efficacy and safety of bilateral pallidal stimulation in 6 children and adolescents with primary generalized dystonia. In addition, we strived to find predictor...

journal_title：Brain & development

authors： Borggraefe I,Mehrkens JH,Telegravciska M,Berweck S,Bötzel K,Heinen F

更新日期：2010-03-01 00:00:00

abstract：:We report the case of a girl with Tay-Sachs disease who had convulsions and deteriorated rapidly after an upper respiratory infection at the age of 11 months. At the age of 16 months, her seizures became intractable and magnetic resonance imaging of the brain showed high signal intensity on T2-weighted images and mark...

journal_title：Brain & development

authors： Hayase T,Shimizu J,Goto T,Nozaki Y,Mori M,Takahashi N,Namba E,Yamagata T,Momoi MY

更新日期：2010-03-01 00:00:00

abstract：:Pelizaeus-Merzbacher-like disease (PMLD) is a hypomyelinating disorder of the central nervous system caused by mutation in the gap junction protein alpha 12 (GJA12) gene. Uniparental disomy (UPD) is defined as the presence of a chromosome pair, in a diploid individual, that derives from only one parent. Here, we analy...

journal_title：Brain & development

authors： Wang J,Wang H,Wang Y,Chen T,Wu X,Jiang Y

更新日期：2010-03-01 00:00:00

abstract：:The future of human societies depends on children being able to achieve their optimal physical and psychological development. Developmental delay is failure to acquire age-appropriate functionality. It may involve one or more streams of development. Responsive parenting has potential to promote better development. Pri...

journal_title：Brain & development

authors： Aly Z,Taj F,Ibrahim S

更新日期：2010-02-01 00:00:00

abstract：:Oxidative stress resulting from increased free radical production and/or defects in antioxidant defences may be the cause of various neurodegenerative disorders. In this study, the roles of oxygen free radicals, nitric oxide, superoxide dismutase, vitamin E and vitamin C were investigated in pure and complicated hered...

journal_title：Brain & development

authors： Gücüyener K,Pinarli FG,Erbaş D,Hasanoğlu A,Serdaroğlu A,Topaloğlu H

更新日期：2010-02-01 00:00:00

abstract：:The relationship between febrile seizures and hippocampal sclerosis has been the subject of longstanding discussion. Animal models for prolonged seizures have shown a clear causal relationship with focal limbic features at low dose and hippocampal damage at high dose. Careful history taking of febrile seizure semiolog...

journal_title：Brain & development

authors： Neville BG,Gindner D

更新日期：2010-01-01 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：: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

authors： Shi X,Yasumoto S,Nakagawa E,Fukasawa T,Uchiya S,Hirose S

更新日期：2009-11-01 00:00:00

abstract：:Carbamoyl phosphate synthetase 1 deficiency (CPS1D) is an autosomal recessive disorder of the urea cycle which causes hyperammonemia. Two forms of CPS1D are recognized: a lethal neonatal type and a less severe, delayed onset type. Neonatal CPS1D cases often present their symptoms within the first days of life. Delayed...

journal_title：Brain & development

authors： Ono H,Suto T,Kinoshita Y,Sakano T,Furue T,Ohta T

更新日期：2009-11-01 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

authors： Ohya T,Nagai T,Araki Y,Yanagawa T,Tanabe T,Iyoda K,Kurihara M,Yamamoto K,Masunaga K,Iizuka C,Nagamitsu S,Yamashita Y,Awaya Y,Maekawa K,Matsuishi T,Research Group on Adverse Effects of Vaccination in Patients with Neurologic

更新日期：2009-11-01 00:00:00

abstract：:Oxidative stress plays an important role in cystic periventricular leukomalacia (PVL). We performed a case-control study of preterm infants delivered at <35 weeks of gestation between January 2003 and December 2006. Patients were stratified into three groups, according to age at which cysts were initially identified: ...

journal_title：Brain & development

authors： Kakita H,Hussein MH,Yamada Y,Henmi H,Kato S,Kobayashi S,Ito T,Kato I,Fukuda S,Suzuki S,Togari H

更新日期：2009-10-01 00:00:00

abstract：OBJECTIVE:Acute encephalitis with refractory repetitive partial seizure (AERRPS) is a peculiar type of post-encephalitic/encephalopathic epilepsy. Here we report an analysis of AERRPS in a series of children and propose an effective treatment option for seizure control in these children. METHODS:We retrospectively rev...

journal_title：Brain & development

authors： Lin JJ,Lin KL,Wang HS,Hsia SH,Wu CT

更新日期：2009-09-01 00:00:00

abstract：:Hypoxia-inducible transcription factors (HIF)-1 and HIF-2, composed of an oxygen-dependent alpha-subunit and a constitutive beta-subunit, have been characterized as the most important regulators of oxygen homeostasis during physiological and pathological conditions. During embryonic, fetal and postnatal brain developm...

journal_title：Brain & development

authors： Trollmann R,Gassmann M

更新日期：2009-08-01 00:00:00

abstract：:Valproic acid (VPA) is a widely used and well-tolerable antiepileptic drug in epileptic patients. However, VPA has many side effects dose-dependent or non-dose-dependent. It is reported that VPA treatment may lead to biotin deficiency and low serum and liver tissue biotinidase enzyme activity (BEA). Major clinical man...

journal_title：Brain & development

authors： Arslan M,Vurucu S,Balamtekin N,Unay B,Akin R,Kurt I,Ozcan O

更新日期：2009-06-01 00:00:00

abstract：:We report herein the case of a 9-year-old girl with life-threatening hyperkinetic involuntary movement of unknown etiology. Medical treatment was ineffective for her stereotypy and choreoathetotic/ballistic movements, but bilateral stimulation of the globus pallidus immediately alleviated these symptoms. Pallidal deep...

journal_title：Brain & development

authors： Sato K,Nakagawa E,Saito Y,Komaki H,Sakuma H,Sugai K,Sasaki M,Kaido T,Nakama H,Otsuki T

更新日期：2009-06-01 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

authors： Hikita T,Kodama H,Nakamoto N,Kaga F,Amakata K,Ogita K,Kaneko S,Fujii Y,Yanagawa Y

更新日期：2009-06-01 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

authors： Hirabayashi Y,Okumura A,Kondo T,Magota M,Kawabe S,Kando N,Yamaguchi H,Natsume J,Negoro T,Watanabe K

更新日期：2009-06-01 00:00:00

abstract：:MRI appearance of Sturge-Weber Syndrome (SWS) in patients with Tuberous Sclerosis (TSC) has been rarely reported. We describe a new patient with confirmed diagnosis of TSC and MRI appearance of SWS and review the pertinent literature. We discuss these findings on the basis of the new classifications of brain malformat...

journal_title：Brain & development

authors： Curatolo P,Lo-Castro A,Pinci M,Moavero R,Bombardieri R

更新日期：2009-05-01 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

authors： Yang Z,Liu X,Qin J,Zhang Y,Bao X,Chang X,Wang S,Wu Y,Xiong H

更新日期：2009-04-01 00:00:00

abstract：:Over the past 10 years mutations in voltage-gated sodium channels (Na(v)s) have become closely associated with inheritable forms of epilepsy. One isoform in particular, Na(v)1.1 (gene symbol SCN1A), appears to be a superculprit, registering with more than 330 mutations to date. The associated phenotypes range from ben...

journal_title：Brain & development

authors： Lossin C

更新日期：2009-02-01 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

authors： Tohda C,Nakanishi R,Kadowaki M

更新日期：2009-01-01 00:00:00

abstract：BACKGROUND:The underlying genetic abnormalities of rare familial idiopathic epilepsy have been identified, such as mutation in KCNQ2, a K(+) channel gene. Yet, few genetic abnormalities have been reported for commoner epilepsy, i.e., sporadic idiopathic epilepsy, which share a phenotype similar to those of familial epi...

journal_title：Brain & development

authors： Ishii A,Fukuma G,Uehara A,Miyajima T,Makita Y,Hamachi A,Yasukochi M,Inoue T,Yasumoto S,Okada M,Kaneko S,Mitsudome A,Hirose S

更新日期：2009-01-01 00:00:00

abstract：:We evaluated the usefulness of intravenous lidocaine therapy for managing of status epilepticus (SE) during childhood in a retrospective multi-institutional study. Questionnaires were sent to 28 hospitals concerning patients admitted for SE who were managed with lidocaine, assessing patient characteristics, treatment ...

journal_title：Brain & development

authors： Hattori H,Yamano T,Hayashi K,Osawa M,Kondo K,Aihara M,Haginoya K,Hamano S,Izumi T,Kaneko K,Kato I,Matsukura M,Minagawa K,Miura T,Ohtsuka Y,Sugai K,Takahashi T,Yamanouchi H,Yamamoto H,Yoshikawa H

更新日期：2008-09-01 00:00:00

abstract：:Hypoxic ischemic brain can result in cerebral palsy, mental retardation, and learning disabilities in surviving children. The purpose of this study was to elucidate the cerebral blood flow volume in infants complicated with brain damage after the birth. Nine term infants with hypoxic ischemic encephalopathy and 41 nor...

journal_title：Brain & development

authors： Fukuda S,Mizuno K,Kawai S,Kakita H,Goto T,Hussein MH,Daoud GA,Ito T,Kato I,Suzuki S,Togari H

更新日期：2008-04-01 00:00:00

abstract：:The aim of this study is to clarify the characteristics of ictal EEG findings of neonatal seizures in preterm infants. Seizures associated with ictal EEG changes were recognized in nine infants with gestational age of less than 37 weeks. Propagation, migration, shifting, changes in morphology of ictal EEG discharges w...

journal_title：Brain & development

authors： Okumura A,Hayakawa F,Kato T,Itomi K,Maruyama K,Kubota T,Suzuki M,Kidokoro H,Watanabe K

更新日期：2008-04-01 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

authors： Nishioka J,Akita Y,Yatsuga S,Katayama K,Matsuishi T,Ishibashi M,Koga Y

更新日期：2008-02-01 00:00:00

abstract：:In this retrospective study, we reviewed the charts and collected clinical and radiographic data on children (age range, 1 month to 18 years) with symptoms and radiographic confirmation of ischemic stroke for the period of January 1996 to July 2006. Ninety-four children were enrolled. Eighty-eight had arterial ischemi...

journal_title：Brain & development

authors： Lee YY,Lin KL,Wang HS,Chou ML,Hung PC,Hsieh MY,Lin JJ,Wong AM

更新日期：2008-01-01 00:00:00

abstract：PURPOSE:Many factors have been studied as potential predictors of recurrent febrile seizures (FS), however the available data in literature are inconsistent. The aim of the present paper is to determine which factors are responsible for the first and for multiple recurrences of FS, in a large sample of children with a ...

journal_title：Brain & development

authors： Pavlidou E,Tzitiridou M,Kontopoulos E,Panteliadis CP

更新日期：2008-01-01 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

authors： Endoh F,Yoshinaga H,Kobayashi K,Ohtsuka Y

更新日期：2007-11-01 00:00:00