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

abstract：:A cDNA encoding for rat synapsin I, a neuron-specific protein localized on the cytoplasmic surface of synaptic vesicles and probably involved in the regulation of neurotransmitter release from nerve terminals, has been used to map the human gene to the short arm of the X chromosome. We have screened, using this cDNA, ...

journal_title：Brain & development

authors： Ferlini A,Ansaloni L,Nobile C,Forabosco A

更新日期：1990-01-01 00:00:00

abstract：:Duchenne muscular dystrophy (DMD) is a recessive X-linked genetic disease caused by a mutation in the dystrophin gene. The new drug NS-065/NCNP-01 utilizing exon-skipping therapy targeting specific deletions has been used in a first-in-human trial for the treatment of DMD. We surveyed 10 pairs of DMD participants and ...

journal_title：Brain & development

authors： Shimizu R,Ohata M,Tachimori H,Kimura E,Harada Y,Takeshita E,Tamaura A,Takeda S,Komaki H

更新日期：2020-04-01 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：:West syndrome (WS) is associated with diverse etiological factors. This fact has suggested that there must be a 'final common pathway' for these etiologies, which operates on the immature brain to result in WS only at the maturational state present during infancy. Any theory for the pathogenesis of WS has to account f...

journal_title：Brain & development

authors： Brunson KL,Eghbal-Ahmadi M,Baram TZ

更新日期：2001-11-01 00:00:00

abstract：:Spasms are a form of epileptic seizure typical of infancy. From a clinical point of view, the child presents a flexor-extensor movement involving the trunk and limbs and lasting about 1s. Although asymmetry can be present, the seizure involves both sides of the body. The ictal discharge most frequently associated with...

journal_title：Brain & development

authors： Vigevano F,Fusco L,Pachatz C

更新日期：2001-11-01 00:00:00

abstract：AIM:To report on two children with encephalopathy caused by dietary thiamine deficiency due to newly developing nutritional problems in contemporary Japan. SUBJECTS:A 1-year-old boy who had consumed 1l of isotonic drinks per day for 4 months after an episode of diarrhea, and presented with ocular movement disorder, dy...

journal_title：Brain & development

authors： Saeki K,Saito Y,Komaki H,Sakakibra T,Nakagawa E,Sugai K,Sakuma H,Sasaki M,Honda T,Hayashi H,Katori N,Miyahara Y

更新日期：2010-08-01 00:00:00

abstract：:The juvenile form of neuronal ceroid lipofuscinosis (JNCL) is caused by mutations in the CLN3 gene, and is characterized by progressive loss of vision and development of motor deficits. A few patients exhibit a more protracted clinical course and are diagnosed with protracted JNCL (PJNCL). Here, we report the autopsy ...

journal_title：Brain & development

authors： Anzai Y,Hayashi M,Fueki N,Kurata K,Ohya T

更新日期：2006-08-01 00:00:00

abstract：:This report concerns a 6-year-old girl who showed peculiar symptoms but responded favourably to L-dopa. She developed normally until around 1 year of age, at which time head instability, hypotonia, increased deep tendon reflexes and choreoathetotic movements developed. These symptoms appeared to worsen in the afternoo...

journal_title：Brain & development

authors： Yoshikawa H,Araki K,Sakuragawa N,Arima M

更新日期：1991-01-01 00:00:00

abstract：:We measured neopterin, biopterin and nitric oxide (NO) concentrations in the cerebrospinal fluid of pediatric patients with central nervous system (CNS) infectious diseases. The nitric oxide and neopterin concentrations were significantly elevated in encephalitis patients, especially in two cases with serious neurolog...

journal_title：Brain & development

authors： Azumagawa K,Suzuki S,Tanabe T,Wakamiya E,Kawamura N,Tamai H

更新日期：2003-04-01 00:00:00

abstract：:The objective of the present study was to evaluate sleeping position-dependent effects on cerebral hemodynamics during apnea in preterm infants. To this end, polygraphic studies were performed on 15 stable preterm infants lying prone and lying supine. Changes in cerebral blood volume (DeltaCBV) and in cerebral hemoglo...

journal_title：Brain & development

authors： Pichler G,Schmölzer G,Müller W,Urlesberger B

更新日期：2001-10-01 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：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：:The efficacy, serum concentration and side effects of CBZ for partial seizures in children were evaluated. The study was undertaken on 27 patients with partial seizures ranging from 5 to 17 years of age. Further 15 patients with various types of epilepsy taking CBZ with other anticonvulsants were selected as controls ...

journal_title：Brain & development

authors： Sato H,Doi M,Okuno T

更新日期：1979-01-01 00:00:00

abstract：OBJECTIVES:Defects in DNA damage responses or repair mechanisms cause numerous rare inherited diseases, referred to as "DNA-repair defects" or "DNA damage deficiency", characterized by neurodegeneration, immunodeficiency, and/or cancer predisposition. Early accurate diagnosis is important for informing appropriate clin...

journal_title：Brain & development

authors： Kashimada A,Hasegawa S,Nomura T,Shiraku H,Moriyama K,Suzuki T,Nakajima K,Mizuno T,Imai K,Sugawara Y,Morio T,Kumada S,Takagi M

更新日期：2019-02-01 00:00:00

abstract：:Glucose transporter type1 (GLUT-1) deficiency may be rare, but it is a preventable cause of severe learning difficulties; and therefore there is an urgency in making an early diagnosis. Suspicions must be roused when intractable seizures occur in infancy. These may be associated with acquired microcephaly and developm...

journal_title：Brain & development

authors： Gordon N,Newton RW

更新日期：2003-10-01 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：OBJECTIVES:Acute encephalopathy with reduced subcortical diffusion (AED) covers a spectrum including not only typical acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) but also atypical AESD with monophasic clinical course, or more severe subtypes. Aim of this study is to analyze prognostic ...

journal_title：Brain & development

authors： Hayashi N,Okumura A,Kubota T,Tsuji T,Kidokoro H,Fukasawa T,Hayakawa F,Ando N,Natsume J

更新日期：2012-09-01 00:00:00

abstract：:The incidence of West syndrome (WS) was determined by a search of reports of electroencephalograms (EEG) recorded in 1998 and 1999 in all public hospitals in Singapore. Amongst records of patients born in 1998, nine were found with EEG features of hypsarrhythmia or modified hypsarrhythmia with onset of seizures betwee...

journal_title：Brain & development

authors： Lee WL,Ong HT

更新日期：2001-11-01 00:00:00

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

authors： Kodama Y,Sameshima H,Ikenoue T

更新日期：2016-04-01 00:00:00

abstract：:Seventeen normal term infants delivered at the Jikei University School of Medicine were placed daily on a pedoscope in the supine and prone position after birth, and the movement of the gravity center and changes in the activities of the extremities were assessed. The results indicated that both the activity of the ex...

journal_title：Brain & development

authors： Maekawa K,Soeda A,Yokoi S,Maekawa N,Usui N,Kiryu T,Hirasawa Y,Akamatsu H,Kamanaka A,Wada M

更新日期：1986-01-01 00:00:00

abstract：:From 1971 to 1978, 5,202 schoolchildren from the first to the 9th grade underwent mass screening EEG. Paroxysmal discharges were recognized in 1.7%. Focal paroxysmal discharges appeared most frequently and the temporal, occipital, and central areas were the most common sites. Children having autonomic seizures, psycho...

journal_title：Brain & development

authors： Tsuchiya S

更新日期：1981-01-01 00:00:00

abstract：:Angelman syndrome (AS) is a genetic disorder with characteristic clinical and EEG findings. We report here the results of long-term follow-up studies on the epileptic seizures and EEG findings of 23 cases of deletion type AS confirmed by FISH analysis, including seven cases previously reported by Matsumoto et al. in 1...

journal_title：Brain & development

authors： Uemura N,Matsumoto A,Nakamura M,Watanabe K,Negoro T,Kumagai T,Miura K,Ohki T,Mizuno S,Okumura A,Aso K,Hayakawa F,Kondo Y

更新日期：2005-08-01 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：:Two brothers, offspring of an Arab inbred family suffered from both mucolipidosis III (ML-III) and Bardet-Biedl syndrome (BBS). Other members of this family were affected either with ML-III, or with BBS. It seems that this unique combination is probably coincidental. ...

journal_title：Brain & development

authors： Gordon CR,Bar-Ziv Y,Frydman M,Zlotogora J,Gadoth N

更新日期：1990-01-01 00:00:00

abstract：INTRODUCTION:Chilaiditi syndrome is a rare pathophysiology in which the colon or other organs are interposed between the diaphragm and liver, and respiratory or digestive symptoms sometimes manifest. Although there have been some cases of Chilaiditi syndrome complicating neuromuscular disorders, none have described res...

journal_title：Brain & development

authors： Ogasawara M,Ishiyama A,Sugiura A,Segawa K,Nonaka I,Takeshita E,Shimizu-Motohashi Y,Komaki H,Sasaki M

更新日期：2018-04-01 00:00:00

abstract：:Hereditary progressive dystonia (HPD) with marked diurnal fluctuation is caused by mutant guanosine triphosphate (GTP) cyclohydrolase I (GCH). The clinical presentation of dominant HPD varies considerably. We proposed the hypothesis that a relative increase of mutant GCH capable of inhibiting normal GCH is responsible...

journal_title：Brain & development

authors： Ueno S,Hirano M

更新日期：2000-09-01 00:00:00

abstract：:Alternating hemiplegia in childhood (AHC) has clinically characteristic features which are easily defined and recognizable. Laboratory investigations were basically normal although they were extensively examined during and between attacks. There is still much debate about its etiology, particularly its relation to mig...

journal_title：Brain & development

authors： Sakuragawa N

更新日期：1992-09-01 00:00:00

abstract：:Hypomelanosis of Ito (HI) is a neurocutaneous syndrome with multisystemic involvement. Its most frequent neurological abnormalities are mental retardation and seizures. EEG, CT and MRI findings are not characteristic enough to be diagnostic. In this report, we describe a patient with typical cutaneous lesions of HI an...

journal_title：Brain & development

authors： Urgelles E,Pascual-Castroviejo I,Roche C,Moneo JL,Martinez MA,Vega A

更新日期：1996-01-01 00:00:00

abstract：:In this study a comparison of the myelination rate in humans in normal and pathologic conditions was made. The progress of myelination was examined on slides stained by the Klüver-Barrera method and evaluated as to four degrees. The prenatal myelination in the brain stem in a group of newborns who died of pregnancy pa...

journal_title：Brain & development

authors： Dambska M,Laure-Kamionowska M

更新日期：1990-01-01 00:00:00

abstract：BACKGROUND:The potassium voltage-gated channel subfamily Q member 2 (KCNQ2) gene has been reported to be associated with various types of epilepsy, including benign familial neonatal seizure (BFNS), early infantile epileptic encephalopathy (EIEE), and unclassified early onset encephalopathies. We herein report a patien...

journal_title：Brain & development

authors： Kojima K,Shirai K,Kobayashi M,Miyauchi A,Saitsu H,Matsumoto N,Osaka H,Yamagata T

更新日期：2018-01-01 00:00:00