A novel homozygous HOXB1 mutation in a Turkish family with hereditary congenital facial paresis.

abstract：PURPOSE:This study aimed to analyze the topological characteristics of brain structural network in pediatric epilepsy patients with vagus nerve stimulation (VNS) by applying graph theoretical approaches. METHODS:Nine patients with generalized seizures and eight normal controls (NC) were enrolled. Based on diffusion te...

journal_title：Brain & development

authors： Zhu J,Xu C,Zhang X,Qiao L,Wang X,Zhang X,Yan X,Ni D,Yu T,Zhang G,Li Y

更新日期：2021-01-01 00:00:00

abstract：:Learning disorders of various types are relatively common, and the reaction of the affected child can lead to social problems. The higher the children's intelligence the more frustrated they can become. Lack of self-esteem can cause unacceptable behaviour in trying to counteract this, and boost the child's confidence....

journal_title：Brain & development

authors： Gordon N

更新日期：1993-05-01 00:00:00

abstract：:We examined the specific nerve conduction deficits distinguishing spinal muscular atrophy (SMA) subtypes I and II. Five SMA I patients (age, 0.2-1.1 years) and 10 SMA II patients (age, 1.0-2.8 years) were examined. Patients were compared to age-matched controls for motor and sensory conduction velocity (MCV and SCV) c...

journal_title：Brain & development

authors： Yonekawa T,Komaki H,Saito Y,Sugai K,Sasaki M

更新日期：2013-02-01 00:00:00

abstract：:Autism spectrum disorders (ASD) are manifest as impairments in social interaction, language and speech development, and the appearance of repetitive behaviors with restricted interests. Motor impairments in individuals with ASD have been categorized as "associated symptoms". The objective of this study was to describe...

journal_title：Brain & development

authors： Ming X,Brimacombe M,Wagner GC

更新日期：2007-10-01 00:00:00

abstract：:Bickerstaff's brainstem encephalitis (BBE) is a rare immune-mediated disorder characterized by ophthalmoplegia, ataxia and disturbance of consciousness, which may overlap with Guillain-Barré syndrome (GBS) if there is additional limb weakness. We report a 7-month-old boy presented with ophthalmoplegia followed by a ra...

journal_title：Brain & development

authors： Fong CY,Aung HWW,Khairani A,Gan CS,Shahrizaila N,Goh KJ

更新日期：2018-06-01 00:00:00

abstract：AIM:To describe beneficial effects of callosotomy on KCNQ2-related intractable epilepsy. CASE REPORT:Our patient was a 10-year-old girl who had developed epilepsy during the neonatal period, accompanied by a suppression-burst pattern on the electroencephalography (EEG). The patient showed profound psychomotor developm...

journal_title：Brain & development

authors： Yamamoto A,Saito Y,Oyama Y,Watanabe Y,Ikeda A,Takayama R,Ikeda H,Takeshita S,Takumi I,Itai T,Miyatake S,Matsumoto N

更新日期：2020-09-01 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：: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:The study aims to detect the polymorphisms in uridine diphosphate glucuronyl transferase (UGT) 2B7∗2 and investigate the corresponding effects on the blood concentrations of valproic acid (VPA) and carbamazepine (CBZ). METHODS:A chemiluminescence immunoassay analyzer was used to detect the plasma concentration...

journal_title：Brain & development

authors： Zhang H,Zhang W,Li Y,Yan J,Zhang J,Wang B

更新日期：2018-02-01 00:00:00

abstract：:A 2-month-old Japanese girl exhibited tonic seizure, agenesis of the corpus callosum, lacunar chorioretinopathy, vertebral anomalies, electroencephalographic abnormalities and a malignant tumor. Autopsy revealed a hepatoblastoma and severe brain malformations consisting of callosal agenesis, arhinencephaly, marked pol...

journal_title：Brain & development

authors： Tanaka T,Takakura H,Takashima S,Kodama T,Hasegawa H

更新日期：1985-01-01 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：:We report a 20-month-old girl with an unruptured aneurysm of the middle cerebral artery. The initial sign was complex partial seizures. Magnetic resonance angiography showed an aneurysm of the right middle cerebral artery. Cerebral angiography confirmed the presence of a saccular aneurysm. After 3 months, the aneurysm...

journal_title：Brain & development

authors： Tanaka K,Hirayama K,Hattori H,Matsuoka O,Sakamoto H,Hakuba A,Murata R

更新日期：1994-05-01 00:00:00

abstract：:Monitoring brain function by EEG is an important means of preventing cerebral insults in pediatric cardiovascular surgery. We studied intraoperative EEG changes and their regional differences associated with hypothermia and brain ischemia. The subjects of this study consisted of 13 children ranging in age from 4 month...

journal_title：Brain & development

authors： Akiyama T,Kobayashi K,Nakahori T,Yoshinaga H,Ogino T,Ohtsuka Y,Takeuchi M,Morita K,Sano S,Oka E

更新日期：2001-03-01 00:00:00

abstract：INTRODUCTION:The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2) with early onset. This gene is involved in typical CMT2A and in more atypical phenotypes as optic atrophy or spastic paraplegia. CMT2 r...

journal_title：Brain & development

authors： Di Meglio C,Bonello-Palot N,Boulay C,Milh M,Ovaert C,Levy N,Chabrol B

更新日期：2016-05-01 00:00:00

abstract：:CLCN2-related leukoencephalopathy (CC2L) is a rare autosomal recessive disorder caused by variants in CLCN2. We report a boy whose brain MRI during an episode of aseptic meningitis at the age of 6 years revealed wide areas of restriction on diffusion-weighted images (DWI) in the cerebral subcortical white matter calle...

journal_title：Brain & development

authors： Ozaki A,Sasaki M,Hiraide T,Sumitomo N,Takeshita E,Shimizu-Motohashi Y,Ishiyama A,Saito T,Komaki H,Nakagawa E,Sato N,Nakashima M,Saitsu H

更新日期：2020-06-01 00:00:00

abstract：OBJECTIVES:This study was performed to evaluate the efficacy and tolerability of lacosamide (LCM) for paroxysmal kinesigenic dyskinesia (PKD) in children. METHODS:We retrospectively reviewed the medical charts of pediatric PKD patients (aged <16 years) treated with LCM. Data regarding demographic characteristics, prol...

journal_title：Brain & development

authors： Furukawa G,Negishi Y,Takeuchi T,Ishihara N,Okumura A

更新日期：2020-09-01 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：OBJECTIVE:To evaluate the efficacy and safety of intravenous (i.v.) thiamylal in pediatric magnetic resonance imaging (MRI) sedation. METHODS:Infants and children from 1 month up to 8 years of age who underwent MRI in our hospital between April 2017 and March 2019 were included in this prospective observational study....

journal_title：Brain & development

authors： Irie S,Hirai K,Kano K,Yanabe S,Migita M

更新日期：2020-08-01 00:00:00

abstract：PURPOSE:We performed this study to evaluate the long-term efficacy and tolerability of ethosuximide (ESX), valproic acid (VPA), and lamotrigine (LTG) as initial monotherapies for patients with newly diagnosed childhood absence epilepsy. METHODS:We retrospectively reviewed the medical records of 128 patients (45 boys a...

journal_title：Brain & development

authors： Hwang H,Kim H,Kim SH,Kim SH,Lim BC,Chae JH,Choi JE,Kim KJ,Hwang YS

更新日期：2012-05-01 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：: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：:The long-term effectiveness of acetazolamide (AZA) and its side effects, especially the formation of renal calculi, were investigated in a prospective study when AZA was used as an adjunct to other antiepileptic drugs in the treatment of refractory epilepsies. The subjects comprised 37 patients aged from 1 to 17 years...

journal_title：Brain & development

authors： Katayama F,Miura H,Takanashi S

更新日期：2002-04-01 00:00:00

abstract：:The number of large myelinated axons was markedly decreased in almost all the intramuscular nerve bundles included in 32 muscle biopsies from patients with Werdnig-Hoffmann disease compared to that in normals. The morphometric analysis of peripheral nerves in 5 epon-embedded sections also showed a selective loss of la...

journal_title：Brain & development

authors： Chien YY,Nonaka I

更新日期：1989-01-01 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：:Two siblings, male and female, with identical lethal brain malformation are described. Their anomaly is characterized by very low brain weight, lissencephaly, wide ventricles and thin neopallium (colpocephaly) varying in thickness between 0.2 and 3 mm. The neocortex is four layered as in classic lissencephaly. Brainst...

journal_title：Brain & development

authors： Barth PG,Mullaart R,Stam FC,Slooff JL

更新日期：1982-01-01 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：: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

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：:The British Isles Survey for Rett has registered 1,159 cases over up to 20 years. Indicators of health and severity, recorded at intervals throughout life, are drawn from clinical examinations, reports and postal questionnaires. This study aimed to establish the stability and predictive value of an early severity scor...

journal_title：Brain & development

authors： Kerr AM,Prescott RJ

更新日期：2005-11-01 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