Familial porencephalic white matter disease in two generations.

abstract：:A 2-year-old boy with herpes simplex encephalitis developed diffuse brain lesions involving the white matter of both cerebral hemispheres. These lesions in the white matter were clearly observed on magnetic resonance imaging (MRI) with the T2-weighted sequence, and were found to have spontaneously disappeared on subse...

journal_title：Brain & development

authors： Tamura T,Morikawa A,Kikuchi K

更新日期：1996-03-01 00:00:00

abstract：BACKGROUND:Epilepsy is a common chronic disorder in pediatric neurology. Nowadays, a variety of antiepileptic drugs (AEDs) are available. A scientific method designed to evaluate the effectiveness of AEDs in the early stage of treatment has not been reported. PURPOSE:In this study, we try to use quantitative EEG (QEEG...

journal_title：Brain & development

authors： Ouyang CS,Chiang CT,Yang RC,Wu RC,Wu HC,Lin LC

更新日期：2018-01-01 00:00:00

abstract：:Recent advances in modern technologies have enabled us to investigate higher brain functions non-invasively in human subjects. These techniques include topographic analysis of the scalp-recorded electric potentials, recording of the magnetic field generated from the brain, measurement of regional cerebral blood flow c...

journal_title：Brain & development

authors： Shibasaki H

更新日期：1993-11-01 00:00:00

abstract：:We investigated the neuroprotective effects of human placental extracts (HPE) and the effects of HPE on recovery of cognitive and behavioral function on hypoxic-ischemic brain injury in the newborn rat. The right common carotid arteries of 7-day-old rats were coagulated, and rats were then exposed to 8% oxygen. Immedi...

journal_title：Brain & development

authors： Park JY,Byeon JH,Park SW,Eun SH,Chae KY,Eun BL

更新日期：2013-01-01 00:00:00

abstract：:We report seizures induced by adrenocorticotropic hormone (ACTH), which were demonstrated clinically and electro-encephalographically, in a severely handicapped 7-month-old infant with West syndrome due to perinatal hypoxicischemic encephalopathy. Although tonic spasms (original seizures) decreased soon after starting...

journal_title：Brain & development

authors： Kanayama M,Ishikawa T,Tauchi A,Kobayashi M,Takasaka Y,Shibata H

更新日期：1989-01-01 00:00:00

abstract：:We report an 11-year-old girl with progressive hypopituitarism and visual loss of the right eye caused by trans-sphenoidal and sphenoethmoidal encephaloceles associated with morning glory syndrome. She was first seen at the age of 8 years, because of polydipsia and polyuria, and examination at that time revealed pitui...

journal_title：Brain & development

authors： Morioka M,Marubayashi T,Masumitsu T,Miura M,Ushio Y

更新日期：1995-05-01 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：:713 children (from newborn to 12-month-old) with delayed motor development were carefully examined and classified into normal, very light cerebral coordination disturbance (CCD, Vojta), light CCD, moderate CCD, severe CCD, suspected cerebral palsy (CP) and other diseases at their first visit, and were followed up care...

journal_title：Brain & development

authors： Imamura S,Sakuma K,Takahashi T

更新日期：1983-01-01 00:00:00

abstract：OBJECTIVE:Epilepsia partialis continua (EPC) was one type of focal status epilepticus. The aim of this study was to analyze the clinical and electroencephalography (EEG) characteristics, and outcome of 57 child-onset patients with EPC according to different etiologies, and further explore the electro-clinical-etiologic...

journal_title：Brain & development

authors： Li H,Xue J,Qian P,Zhang Y,Bao X,Liu X,Yang Z

更新日期：2017-06-01 00:00:00

abstract：:Ninety-nine cases of Rett syndrome (RTT) diagnosed clinically (age range 3 years 6 months to 29 years 9 months) were evaluated for the ability of language. The presence of meaningful words, vocabularies, and ages at the start and disappearance of speech were assessed. Phenotype/genotype correlation was evaluated in 22...

journal_title：Brain & development

authors： Uchino J,Suzuki M,Hoshino K,Nomura Y,Segawa M

更新日期：2001-12-01 00:00:00

abstract：:Assessment of treatment strategies in febrile seizures should be based on short- and long-term outcomes, with and without acute, intermittent, or chronic medical intervention, as well as short- and long-term side effects. Febrile seizures are a benign condition with a normal neurological, motor, intellectual, and cogn...

journal_title：Brain & development

authors： Knudsen FU

更新日期：1996-11-01 00:00:00

abstract：BACKGROUND:The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this. MATERIALS & METHODS:We enrolled 14 patients with KABUK1, whose median age was 13.6years (range=4.1-21.3years). Their medical records fro...

journal_title：Brain & development

authors： Kurahashi N,Miyake N,Mizuno S,Koshimizu E,Kurahashi H,Yamada K,Natsume J,Aoki Y,Nakamura M,Taniai H,Maki Y,Abe-Hatano C,Matsumoto N,Maruyama K

更新日期：2017-09-01 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：:Phelan-McDermid syndrome (PMS) is a 22q13.3 deletion syndrome. Most PMS patients show global developmental delay and some of them suffer from developmental regression. The deleted region contains ARSA, which is responsible for metachromatic leukodystrophy (MLD). Here we report an extremely rare case of PMS characteriz...

journal_title：Brain & development

authors： Ahn H,Seo GH,Keum C,Heo SH,Kim T,Choi J,Yum MS,Lee BH

更新日期：2020-05-01 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：:In the present study, we investigated age-related changes in pteridine levels and enzymatic activity responsible for tetrahydrobiopterin biosynthesis in mouse tissues. Until about 15 weeks after the birth, the remarkable change of tetrahydrobiopterin (BH4) was observed in all tissues tested. Between 20 and 50 weeks af...

journal_title：Brain & development

authors： Yoshida YI,Eda S,Masada M

更新日期：2000-09-01 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：:A rare case of a congenital brain tumor was diagnosed by sonography in a fetus at 37weeks' gestation. The ultrasound examination showed a large area of both increased echogenicity and echolucency in one hemisphere suggestive of brain tumor or hemorrhage. Extensive surgical removal of the tumor was performed and reveal...

journal_title：Brain & development

authors： Yang CY,Hsu JF,Lin KL,Jung SM,Lien R,Chang YL

更新日期：2010-11-01 00:00:00

abstract：:Mutations in the methyl-CpG-binding protein 2 gene (MECP2) are identified in the majority of females with Rett syndrome (RTT), an X-linked dominant neurodevelopmental disorder. We searched for mutations by sequencing the MECP2 coding region in 45 sporadic cases (35 with classic RTT, eight with variant forms and two ma...

journal_title：Brain & development

authors： Lee SS,Wan M,Francke U

更新日期：2001-12-01 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

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

更新日期：2001-07-01 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：:Teratological study on microgyra is rare, and its morphogenesis is still on dispute. Microgyra associated with cranial meningocele and progressive hydrocephalus were induced in rat siblings by administration of 10 mg/kg.bw of n-methyl n-nitrosourea (MNU) to rat dams on day 9 of gestation. Microgyra were closely simila...

journal_title：Brain & development

authors： Sato H,Sato N,Tamaki N,Matsumoto S

更新日期：1982-01-01 00:00:00

abstract：:Self-induced seizures by somatosensory stimulation are rare. We describe two epileptic patients with self-induced seizures presumably by peri-orbital somatosensory stimulation. Two infants with severely delayed psychomotor development and poor visual acuity after acute subdural hemorrhage in early infancy had been dia...

journal_title：Brain & development

authors： Takayama R,Takahashi Y,Mogami Y,Ikegami M,Mukaida S,Ikeda H,Imai K,Shigematsu H,Suzuki Y,Inoue Y

更新日期：2012-09-01 00:00:00

abstract：:Doublecortin (DCX) and tubulin play critical roles in neuronal migration. DCX mutations usually cause anterior dominant lissencephaly in males and subcortical band heterotopia (SBH) in females. We used whole-exome sequencing to investigate causative gene variants in a large family with late-childhood-onset focal epile...

journal_title：Brain & development

authors： Kim YO,Nam TS,Park C,Kim SK,Yoon W,Choi SY,Kim MK,Woo YJ

更新日期：2016-06-01 00:00:00

abstract：:A 14-year-old female had repeated vomiting, headache, abdominal pain, visual field deficit and lethargy at the onset of hypertensive encephalopathy. Cerebrospinal fluid (CSF) test revealed a high level of IgG and protein. MRI demonstrated no supratentorial cerebral lesions but hyperintense lesions were observed from t...

journal_title：Brain & development

authors： Nagato M,Takahashi Y,Yoshioka M,Nambu M

更新日期：2010-08-01 00:00:00

abstract：:Spinal muscular atrophy (SMA) is a common autosomal recessive neuromuscular disorder that is caused by loss of the survival motor neuron gene, SMN1. SMA treatment strategies have focused on production of the SMN protein from the almost identical gene, SMN2. Valproic acid (VPA) is a histone deacetylase inhibitor that c...

journal_title：Brain & development

authors： Harahap IS,Saito T,San LP,Sasaki N,Gunadi,Nurputra DK,Yusoff S,Yamamoto T,Morikawa S,Nishimura N,Lee MJ,Takeshima Y,Matsuo M,Nishio H

更新日期：2012-03-01 00:00:00

abstract：:Rett syndrome (RTT) is a neurodevelopmental disorder that is one of the most common causes of mental retardation in females. RTT diagnosis is based on distinct clinical criteria. We describe here a female patient with severe phenotype of congenital variant RTT. The patient originally presented with severe developmenta...

journal_title：Brain & development

authors： Kobayashi Y,Ohashi T,Akasaka N,Tohyama J

更新日期：2012-08-01 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：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：:The effects of drug on the cholinergic system (atropine and physostigmine) were evaluated in acute tests in 12 infant patients with the West syndrome (WS) and in 12 older ones who had suffered from WS at typical ages, displaying various types of epileptic symptoms. In both groups paroxysmal EEG activity was inhibited ...

journal_title：Brain & development

authors： Rektor I,Svejdová M,Ménini C

更新日期：1990-01-01 00:00:00