abstract：:Here we describe two patients with 5p- syndrome who suffered from epilepsy characterised by stimulus-induced epileptic spasms manifesting as head nodding. In patient 1, a series of spasms were exclusively triggered by eating, and were associated with diffuse high-voltage slow waves on ictal EEG, particularly presentin...

journal_title：Brain & development

authors： Shirai K,Saito Y,Yokoyama A,Nishimura Y,Tamasaki A,Maegaki Y

更新日期：2016-02-01 00:00:00

abstract：BACKGROUND:Few studies have targeted psychomotor development and associated perinatal risk factors in Japanese very low birth weight (VLBW) infants who are severely small for gestational age (SGA). DESIGN/SUBJECTS:A single-center study was conducted in 104 Japanese VLBW infants who were born preterm, due to maternal, ...

journal_title：Brain & development

authors： Kato T,Mandai T,Iwatani S,Koda T,Nagasaka M,Fujita K,Kurokawa D,Yamana K,Nishida K,Taniguchi-Ikeda M,Tanimura K,Deguchi M,Yamada H,Iijima K,Morioka I

更新日期：2016-02-01 00:00:00

abstract：:l-2-Hydroxyglutaric aciduria (l-2-HGA) is a rare inborn error of metabolism. Mainly, patients with this disorder exhibit neurological symptoms and characteristic neuroradiological findings, such as subcortical white matter abnormalities, which are believed to be caused by the toxicity of the accumulation of l-2-hydrox...

journal_title：Brain & development

authors： Yamamoto T,Yoshioka S,Tsurusaki Y,Shino S,Shimojima K,Shigematsu Y,Takeuchi Y,Matsumoto N

更新日期：2016-01-01 00:00:00

abstract：:Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide. We report the case of a Spanish boy of Caucasian origin who presented a generalized congenital muscular hypotonia, more i...

journal_title：Brain & development

authors： Castro-Gago M,Dacruz-Alvarez D,Pintos-Martínez E,Beiras-Iglesias A,Arenas J,Martín MÁ,Martínez-Azorín F

更新日期：2016-01-01 00:00:00

abstract：:Norrie disease is an X-linked recessive disorder that is characterized by congenital blindness. Although epileptic seizures are observed in some patients with Norrie disease, little is known about this phenomenon. Here, we report the manifestation of epilepsy in siblings with Norrie disease to increase our knowledge o...

journal_title：Brain & development

authors： Okumura A,Arai E,Kitamura Y,Abe S,Ikeno M,Fujimaki T,Yamamoto T,Shimizu T

更新日期：2015-11-01 00:00:00

abstract：PURPOSE:Fukuyama congenital muscular dystrophy (FCMD) is a congenital muscular dystrophy rarely reported outside Japan. Here, we report three patients with Fukuyama congenital muscular dystrophy (FCMD) in China who shared a similar clinical phenotype and 3-kb insertion in the FKTN 3' untranslated region. METHODS:Immun...

journal_title：Brain & development

authors： Yang H,Kobayashi K,Wang S,Jiao H,Xiao J,Toda T,Wu X,Xiong H

更新日期：2015-10-01 00:00:00

abstract：AIM:Cerebellar injury is a characteristic injury associated with preterm infants. However, the impact of cerebellar injury on the development of preterm infants is unclear. METHOD:We reviewed magnetic resonance image studies of preterm infants with cerebral palsy retrospectively and evaluated the developmental outcome...

journal_title：Brain & development

authors： Kobayashi S,Wakusawa K,Inui T,Tanaka S,Kobayashi Y,Onuma A,Haginoya K

更新日期：2015-10-01 00:00:00

abstract：BACKGROUND:Carnitine deficiency is relatively common in epilepsy; risk factors reportedly include combination antiepileptic drug (AED) therapy with valproic acid (VPA), young age, intellectual disability, diet and enteral or parenteral feeding. Few studies have examined the correlation between each risk factor and carn...

journal_title：Brain & development

authors： Fukuda M,Kawabe M,Takehara M,Iwano S,Kuwabara K,Kikuchi C,Wakamoto H,Morimoto T,Suzuki Y,Ishii E

更新日期：2015-09-01 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

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

abstract：BACKGROUND:More than 90% of spinal muscular atrophy (SMA) patients show homozygous deletion of SMN1 (survival motor neuron 1). They retain SMN2, a highly homologous gene to SMN1, which may partially compensate for deletion of SMN1. Although the promoter sequences of these two genes are almost identical, a GCC insertion...

journal_title：Brain & development

authors： Harahap NI,Takeuchi A,Yusoff S,Tominaga K,Okinaga T,Kitai Y,Takarada T,Kubo Y,Saito K,Sa'adah N,Nurputra DK,Nishimura N,Saito T,Nishio H

更新日期：2015-08-01 00:00:00

abstract：BACKGROUND:Pelizaeus-Merzbacher disease (PMD), a hypomyelinating leukodystrophy, and the related but less severe allelic spastic paraplegia 2 (SPG2) are caused by mutations in the proteolipid protein 1 (PLP1) gene. Magnetic resonance imaging (MRI) is pivotal for diagnosing these disorders. The severity of PMD/SPG2 vari...

journal_title：Brain & development

authors： Shiihara T,Watanabe M,Moriyama K,Uematsu M,Sameshima K

更新日期：2015-04-01 00:00:00

abstract：INTRODUCTION:We performed this study to confirm the known risk factors and to identify possible new risk factors for subsequent unprovoked seizure after febrile seizure (FS) on Jeju Island, South Korea. METHODS:A population-based retrospective study of 204 children with FS, whose first FS developed between March 2003 ...

journal_title：Brain & development

authors： Hwang G,Kang HS,Park SY,Han KH,Kim SH

更新日期：2015-03-01 00:00:00

abstract：:Intranuclear rod myopathy (IRM), a variant of nemaline myopathy, is characterized by the presence of nemaline bodies in myonuclei. We report a case of IRM presenting with hypoxic ischemic encephalopathy (HIE). There were no prenatal complications caused by fetal brain injury. Although no nemaline bodies were observed ...

journal_title：Brain & development

authors： Kawase K,Nishino I,Sugimoto M,Kouwaki M,Koyama N,Yokochi K

更新日期：2015-02-01 00:00:00

abstract：:Neuromyelitis optica (NMO) is an inflammatory demyelinating disease with a poor prognosis that is characterized by inflammatory optic neuritis and myelitis. Although it is commonly misdiagnosed as multiple sclerosis (MS), distinguishing NMO from MS is important, as therapeutic approaches approved for MS are ineffectiv...

journal_title：Brain & development

authors： Numata Y,Uematsu M,Suzuki S,Miyabayashi T,Oyama T,Kubota S,Itoh T,Hino-Fukuyo N,Takahashi T,Kure S

更新日期：2015-01-01 00:00:00

abstract：BACKGROUND:Benign epilepsy with centrotemporal spikes is the most common partial epilepsy syndrome in children. The long-term prognosis for children with BECTS is believed to be generally excellent with seizures usually responding well to AEDs. The goal of the present study was to determine the risk factors associated ...

journal_title：Brain & development

authors： Incecik F,Altunbasak S,Herguner OM,Mert G,Sahan D

更新日期：2015-01-01 00:00:00

abstract：INTRODUCTION:Neuroimaging studies demonstrate that not only the lesions of malformations of cortical development (MCD) but also the normal-appearing parenchyma (NAP) present metabolic impairments, as revealed with (1)H-MRS. We have previously detected biochemical disturbances in MCD lesions with phosphorus-31 magnetic ...

journal_title：Brain & development

authors： Andrade CS,Otaduy MC,Valente KD,Park EJ,Kanas AF,Silva Filho MR,Tsunemi MH,Leite CC

更新日期：2014-11-01 00:00:00

abstract：OBJECTIVE:We aimed to examine (1) the prevalence and characteristics of ADHD in preschool children, and (2) differential diagnoses among children who display symptoms of inattention and hyperactivity-impulsivity in early childhood. METHODS:The participants were children living in Kanie-cho, in Japan's Aichi Prefecture...

journal_title：Brain & development

authors： Nomura K,Okada K,Noujima Y,Kojima S,Mori Y,Amano M,Ogura M,Hatagaki C,Shibata Y,Fukumoto R

更新日期：2014-10-01 00:00:00

abstract：PURPOSE:Ictal fear is an uncommon condition in which fear manifests as the main feature of epileptic seizures. The literature has suggested that ictal fear is generally associated with poor seizure outcomes. We wanted to clarify the variability in seizure outcome of children with ictal fear. SUBJECTS AND METHODS:We id...

journal_title：Brain & development

authors： Akiyama M,Kobayashi K,Inoue T,Akiyama T,Yoshinaga H

更新日期：2014-10-01 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：:Actinomycosis is a rare, chronic, suppurative, and slowly progressive granulomatous disease caused by a group of filamentous gram-positive anaerobic bacteria belonging to the normal flora of the oral cavity, gastrointestinal, and genitourinary tracts. It may involve several organs; however, spinal cord compression has...

journal_title：Brain & development

authors： Hung PC,Wang HS,Chiu CH,Wong AM

更新日期：2014-08-01 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

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

更新日期：2014-06-01 00:00:00

abstract：:Bedside monitoring of cerebral circulation or oxygen metabolism in infants to appropriately manage circulation and establish the oxygen dose, aiming at improving the neurological prognosis, is needed in general clinical practice. Near-infrared spectroscopy is used for measurements of neonatal cerebral Hb oxygen satura...

journal_title：Brain & development

authors： Kusaka T,Isobe K,Yasuda S,Koyano K,Nakamura S,Nakamura M,Ueno M,Miki T,Itoh S

更新日期：2014-04-01 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

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

abstract：:Neurofibromatosis type 2 (NF2) is an autosomal dominant multiple neoplasia syndrome of the central nervous system. The aim of the present study was to characterize the clinical course of early onset NF2. The specific Japanese disease registry for NF2 in 2010 was analyzed retrospectively. The male:female ratio for the ...

journal_title：Brain & development

authors： Matsuo M,Ohno K,Ohtsuka F

更新日期：2014-02-01 00:00:00

abstract：AIMS:Abnormalities of gross motor function in children with autism are well known to clinicians but have not received much empirical documentation and, with the exception of stereotypies, are not among its diagnostic criteria. We recorded the characteristics of gait and prevalence of toe walking, the range of passive j...

journal_title：Brain & development

authors： Shetreat-Klein M,Shinnar S,Rapin I

更新日期：2014-02-01 00:00:00

abstract：OBJECTIVE:Patients with Tourette syndrome (TS) often report characteristic sensory experiences, also called premonitory urges (PUs), which precede tic expression and have high diagnostic relevance. This study investigated the usefulness of a scale developed and validated in children and adolescents-the Premonitory Urge...

journal_title：Brain & development

authors： Crossley E,Seri S,Stern JS,Robertson MM,Cavanna AE

更新日期：2014-01-01 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

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

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

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

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：BACKGROUND:Guillain-Barré syndrome and myasthenia gravis both lead to muscle weakness but the two combined is uncommon. Detection of these entities can help identify forms of autoimmune neuromuscular diseases that may respond to immunotherapy. This report sought to characterize the clinical features of these two entiti...

journal_title：Brain & development

authors： Hsieh MY,Chan OW,Lin JJ,Lin KL,Hsia SH,Wang HS,Chiu CH

更新日期：2013-10-01 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：:We examined seizure, cognitive, and motor outcomes in patients with Rasmussen syndrome or Rasmussen encephalitis (RS), after recent initiation of immunomodulatory therapies. Among 53 patients with a diagnosis of RS referred from all over Japan, 49 patients (male 22, female 27) with symptoms and findings characteristic...

journal_title：Brain & development

authors： Takahashi Y,Yamazaki E,Mine J,Kubota Y,Imai K,Mogami Y,Baba K,Matsuda K,Oguni H,Sugai K,Ohtsuka Y,Fujiwara T,Inoue Y

更新日期：2013-09-01 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：OBJECTIVE:To analyze and to discuss whether by paying attention to the many recent advancements in the field of pediatric epilepsy surgery catastrophic childhood epilepsies caused by definitive or suspected structural lesions can be prevented more often these days in comparison to the past. METHODS:Based on data from ...

journal_title：Brain & development

authors： Holthausen H,Pieper T,Kudernatsch M

更新日期：2013-09-01 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

authors： Tokushige S,Sonoo T,Maekawa R,Shirota Y,Hanajima R,Terao Y,Matsumoto H,Hossain MA,Sakai N,Shiio Y

更新日期：2013-06-01 00:00:00

abstract：:We report the case of a boy with myoclonic epilepsy with ragged-red fibers (MERRF) who had astatic seizures since 2 years of age and later developed ataxia, absence seizures, and myoclonus. Almost homoplasmic A8344G mutation of mitochondrial DNA (m.8344A>G mutation) was detected in lymphocytes. He developed late-onset...

journal_title：Brain & development

authors： Monden Y,Mori M,Kuwajima M,Goto T,Yamagata T,Momoi MY

更新日期：2013-06-01 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

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

更新日期：2013-05-01 00:00:00

abstract：:We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MR...

journal_title：Brain & development

authors： Torisu H,Yoshikawa Y,Yamaguchi-Takada Y,Yano T,Sanefuji M,Ishizaki Y,Sawaishi Y,Hara T

更新日期：2013-05-01 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

authors： Nakamura M,Watanabe S,Inagaki M,Hirai M,Miki K,Honda Y,Kakigi R

更新日期：2013-04-01 00:00:00

abstract：PURPOSE:The aim of the present study was to investigate the correlation between epileptiform discharges on EEGs after febrile seizures and the prognosis of patients in terms of the development of epilepsy and recurrence of febrile seizures. This study also evaluated the characteristics of epileptiform discharges and EE...

journal_title：Brain & development

authors： Wo SB,Lee JH,Lee YJ,Sung TJ,Lee KH,Kim SK

更新日期：2013-04-01 00:00:00