听力与言语-语言病理学

行为科学

医学伦理学

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  • Biallelic XPR1 mutation associated with primary familial brain calcification presenting as paroxysmal kinesigenic dyskinesia with infantile convulsions.

    abstract:BACKGROUND:Mutations in the XPR1 gene are associated with primary familial brain calcifications (PFBC). All reported mutations are missense and inherited as an autosomal dominant trait. PFBC patients exhibited movement disorders, neuropsychiatric symptoms, and other associated symptoms with diverse severity, even withi...

    journal_title:Brain & development

    pub_type:

    doi:10.1016/j.braindev.2020.09.014

    authors: Tang LO,Hou BH,Zhang XN,Xi ZY,Li CX,Xu L

    更新日期:2021-02-01 00:00:00

  • Shuffling babies and autism spectrum disorder.

    abstract:BACKGROUND AND PURPOSE:Bottom shuffling is a locomotion strategy that precedes independent walking in some infants. Shuffling babies are generally considered to have favorable outcomes. The aim of the present study was to reveal clinical features and neurodevelopmental outcomes of shuffling babies who visited a child d...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2020.08.007

    authors: Okai Y,Nakata T,Miura K,Ohno A,Wakako R,Takahashi O,Maki Y,Tanaka M,Sakaguchi Y,Ito Y,Yamamoto H,Kidokoro H,Takahashi Y,Natsume J

    更新日期:2021-02-01 00:00:00

  • Low-dose phenobarbital for epilepsy with myoclonic absences: A case report.

    abstract:BACKGROUND:Epilepsy with myoclonic absences (EMA) is a rare childhood-onset syndrome characterized by absences of responsiveness accompanied by bilateral rhythmic clonic-like myoclonic jerks. Herein, we describe the case of a child with EMA, resistant to multiple commonly used antiepileptic drugs, in whom low-dose phen...

    journal_title:Brain & development

    pub_type:

    doi:10.1016/j.braindev.2020.12.018

    authors: Ito S,Nagumo K,Nishikawa A,Oguni H,Nagata S

    更新日期:2021-01-15 00:00:00

  • Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia.

    abstract:BACKGROUND:Rapid-onset dystonia-parkinsonism (RDP) is a disease characterized by an abrupt onset of dystonia accompanied by signs of parkinsonism and prominent bulbar symptoms. CASE REPORT:We describe a case of a female patient, born after normal delivery, but diagnosed with mild intellectual disability at age 7. She ...

    journal_title:Brain & development

    pub_type:

    doi:10.1016/j.braindev.2020.12.009

    authors: Nomura S,Kashiwagi M,Tanabe T,Oba C,Yanagi K,Kaname T,Okamoto N,Ashida A

    更新日期:2021-01-12 00:00:00

  • Clinical manifestations and epilepsy treatment in Japanese patients with pathogenic CDKL5 variants.

    abstract:OBJECTIVE:Patients with pathogenic cyclin-dependent kinase-like-5 gene (CDKL5) variants are designated CDKL5 deficiency disorder (CDD). This study aimed to delineate the clinical characteristics of Japanese patients with CDD and elucidate possible appropriate treatments. METHODS:We recruited patients with pathogenic o...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2020.12.006

    authors: Kobayashi Y,Tohyama J,Takahashi Y,Goto T,Haginoya K,Inoue T,Kubota M,Fujita H,Honda R,Ito M,Kishimoto K,Nakamura K,Sakai Y,Takanashi JI,Tanaka M,Tanda K,Tominaga K,Yoshioka S,Kato M,Nakashima M,Saitsu H,Matsumot

    更新日期:2021-01-09 00:00:00

  • Efficacy of perampanel for epileptic seizures and daily behavior in a patient with Leigh syndrome: A case report.

    abstract:BACKGROUND:Leigh syndrome (LS) is a mitochondrial disorder that shows abnormal basal ganglia lesion and psychomotor regression. Although vitamins have been used for LS, we have not found any effective drug. CASE PRESENTATION:A 26-year-old man who showed psychomotor delay and short stature at the age of 1 year was diag...

    journal_title:Brain & development

    pub_type:

    doi:10.1016/j.braindev.2020.07.008

    authors: Kimura S,Shiraishi H,Egawa K,Uchida M,Ueno M

    更新日期:2021-01-01 00:00:00

  • A rare infective cause of stroke in an immunocompetent child.

    abstract:BACKGROUND:Infections are a common cause of childhood stroke with variable presentation. The current case describes a rare infective cause of venous and arterial stroke in an immunocompetent girl with management implications. CASE DESCRIPTION:A 12 year old girl, presented with history of fever for 10 days, painful swe...

    journal_title:Brain & development

    pub_type:

    doi:10.1016/j.braindev.2020.07.016

    authors: Gupta J,Chakrabarty B,Singh G,Singh S,Kumar A,Xess I,Jauhari P,Gulati S

    更新日期:2021-01-01 00:00:00

  • The changes in the topological properties of brain structural network based on diffusion tensor imaging in pediatric epilepsy patients with vagus nerve stimulators: A graph theoretical analysis.

    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

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2020.07.006

    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

  • Sensory hypersensitivity in Tourette syndrome: A review.

    abstract::Tourette syndrome (TS) is a neurodevelopmental disorder defined by tics, but most patients also experience bothersome sensory phenomena, in the form of premonitory urges and/or sensory hypersensitivity. Whereas premonitory urges are temporally paired with tics, sensory hypersensitivity is a constant, heightened awaren...

    journal_title:Brain & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.braindev.2020.06.003

    authors: Isaacs D,Riordan H

    更新日期:2020-10-01 00:00:00

  • Learning difficulties in Japanese schoolchildren with focal epilepsy.

    abstract:BACKGROUND:Children with epilepsy often show some degree of cognitive impairment. In this study, we investigated their learning skills to clarify the characteristics of the difficulties related to learning in Japanese-speaking children with focal epilepsy. METHODS:The study included 13 boys and 17 girls of mean age 9....

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2020.06.004

    authors: Miyazaki M,Tanaka T,Adachi Y,Miya K

    更新日期:2020-10-01 00:00:00

  • Survey of patients with spinal muscular atrophy on the island of Shikoku, Japan.

    abstract:BACKGROUND:Spinal muscular atrophy (SMA) is an inherited neuromuscular disorder associated with spinal motor neuron loss and characterized by generalized muscle weakness. Only a few reports exist on SMA epidemiology in Japan. Additionally, nusinersen recently became available as a treatment for this condition. We estim...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2020.05.004

    authors: Okamoto K,Motoki T,Saito I,Urate R,Aibara K,Jogamoto T,Fukuda M,Wakamoto H,Maniwa S,Kondo Y,Toda Y,Goji A,Mori T,Soga T,Konishi Y,Nagai S,Takami Y,Tokorodani C,Nishiuchi R,Usui D,Ando R,Tada S,Yamanishi Y,Na

    更新日期:2020-09-01 00:00:00

  • Lacosamide for children with paroxysmal kinesigenic dyskinesia.

    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

    pub_type:

    doi:10.1016/j.braindev.2020.04.009

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

    更新日期:2020-09-01 00:00:00

  • Effect of total callosotomy on KCNQ2-related intractable epilepsy.

    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

    pub_type:

    doi:10.1016/j.braindev.2020.05.005

    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

  • Homozygosity mapping and whole exome sequencing provide exact diagnosis of Cohen syndrome in a Saudi family.

    abstract:BACKGROUND:Cohen syndrome (CS) is a rare multi-system autosomal recessive disorder with a high prevalence in the Finnish population. Clinical features of Finnish-type CS are homogeneous, however, in non-Finnish populations, CS diagnosis is challenging due to broad phenotypic variability. METHODS:We studied a consangui...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2020.04.010

    authors: Hashmi JA,Fadhli F,Almatrafi A,Afzal S,Ramzan K,Thiele H,Nürnberg P,Basit S

    更新日期:2020-09-01 00:00:00

  • Efficacy and safety of intravenous thiamylal in pediatric procedural sedation for magnetic resonance imaging.

    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

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2020.04.005

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

    更新日期:2020-08-01 00:00:00

  • Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome.

    abstract:BACKGROUND:Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provoking progressive biotin depletion, which causes, in turn, multiple carboxylase deficiency. Its infantile onset is characterized by intractable seizures associated with lethargy, psychomotor regression, hypotonia, feeding a...

    journal_title:Brain & development

    pub_type:

    doi:10.1016/j.braindev.2020.03.001

    authors: Battini R,Olivieri G,Milone R,Mazio F,Scalise R,Verdolotti T,Primiano G,Genovese O,Mercuri E,Servidei S

    更新日期:2020-06-01 00:00:00

  • Quantitative assessment of fine motor skills in children using magnetic sensors.

    abstract:AIM:We aimed to establish objective and quantitative data on fine motor development in typically developing children using magnetic sensors. METHODS:The study included 110 Japanese elementary school children volunteers (57 boys, 53 girls). The participants were instructed to tap their thumbs and index fingers together...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2020.03.004

    authors: Enokizono T,Ohto T,Tanaka M,Maruo K,Sano Y,Kandori A,Takada H

    更新日期:2020-06-01 00:00:00

  • A case of CLCN2-related leukoencephalopathy with bright tree appearance during aseptic meningitis.

    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

    pub_type:

    doi:10.1016/j.braindev.2020.02.008

    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

  • Diagnosis of metachromatic leukodystrophy in a patient with regression and Phelan-McDermid syndrome.

    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

    pub_type:

    doi:10.1016/j.braindev.2020.02.003

    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

  • Vitamin B6 in acute encephalopathy with biphasic seizures and late reduced diffusion.

    abstract:BACKGROUND:The initial presentation of acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is indistinguishable from that of complex febrile seizures (FS), which poses a great diagnostic challenge for clinicians. Excitotoxicity is speculated to be the pathogenesis of AESD. Vitamin B6 (VB6) is ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2020.02.002

    authors: Akiyama T,Toda S,Kimura N,Mogami Y,Hanaoka Y,Tokorodani C,Ito T,Miyahara H,Hyodo Y,Kobayashi K

    更新日期:2020-05-01 00:00:00

  • A questionnaire survey on the efficacy of various treatments for dyskinetic cerebral palsy due to preterm bilirubin encephalopathy.

    abstract:OBJECTIVES:Preterm children with severe dyskinetic cerebral palsy due to bilirubin encephalopathy often suffer from marked generalised hypertonus as they age. We performed a questionnaire survey to investigate patient-reported outcomes of treatments for improving their activities of daily life. METHODS:A mail question...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2020.01.006

    authors: Kitai Y,Hirai S,Okuyama N,Hirotsune M,Nishimoto S,Mizutani S,Okumura A,Kumada S,Arai H

    更新日期:2020-04-01 00:00:00

  • Expectations and anxieties of Duchenne muscular dystrophy patients and their families during the first-in-human clinical trial of NS-065/NCNP-01.

    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

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2020.01.001

    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

  • PIGA related disorder as a range of phenotypes rather than two distinct subtypes.

    abstract::Patients with germline phosphatidylinositol glycan biosynthesis class A (PIGA) related disorder have historically been categorized into one of two distinct subtypes: a severe form which is often fatal, and a less severe form. However, the increasing number of cases with features indicative of both subtypes raise the p...

    journal_title:Brain & development

    pub_type:

    doi:10.1016/j.braindev.2019.10.002

    authors: Cash SJ,Mcgue BP,Reynolds TS,Crist ER

    更新日期:2020-02-01 00:00:00

  • Serum and cerebrospinal fluid cytokines in children with acute encephalopathy.

    abstract:BACKGROUND:The pathogenesis of acute encephalopathy (AE) remains unclear, and a biomarker has not been identified. METHODS:Levels of 49 cytokines and chemokines, including osteopontin (OPN), were measured in serum and cerebrospinal fluid (CSF) of children with AE (n = 17) or febrile convulsion (FC; n = 8; control grou...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2019.11.002

    authors: Kawahara Y,Morimoto A,Oh Y,Furukawa R,Wakabayashi K,Monden Y,Osaka H,Yamagata T

    更新日期:2020-02-01 00:00:00

  • Inflammatory neuropathology of infantile Alexander disease: A case report.

    abstract:BACKGROUND:Alexander disease (AxD) is a rare fatal leukodystrophy caused by a dominant missense mutation in the glial fibrillary acidic protein. In a mouse model of AxD, the pathological astrocyte causes a pronounced immune response. The inflammatory environment in the brain might play an important role in the neuronal...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2019.07.010

    authors: Kora K,Kato T,Ide M,Tanaka T,Yoshida T

    更新日期:2020-01-01 00:00:00

  • Risk factors for recurrence after drug withdrawal in childhood epilepsy.

    abstract:BACKGROUND:Several studies have been conducted to determine the risk of recurrence after withdrawal of antiepileptic drugs (AEDs) in recent years. There is no consensus concerning the circumstances affecting discontinuation of AEDs. This study was designed to determine the recurrence rate of epilepsy after withdrawal o...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2019.08.012

    authors: Karalok ZS,Guven A,Öztürk Z,Gurkas E

    更新日期:2020-01-01 00:00:00

  • Childhood-onset multifocal motor neuropathy with IgM antibodies to GM2 and GalNac-GD1a.

    abstract:BACKGROUND:Multifocal motor neuropathy (MMN) is an acquired immune-mediated form of neuropathy characterized by upper and asymmetric limb weakness without sensory loss. The mean age of onset is 40 years (range, 20-70 years), and childhood-onset MMN is extremely rare. In the present report, we discuss a case of childhoo...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2019.08.013

    authors: Maeda H,Ishii R,Kusunoki S,Chiyonobu T

    更新日期:2020-01-01 00:00:00

  • ARX-associated infantile epileptic-dyskinetic encephalopathy with responsiveness to valproate for controlling seizures and reduced activity of muscle mitochondrial complex IV.

    abstract:BACKGROUND:ARX genetic defect is associated with a spectrum of neurodevelopmental disorders that exhibit a high degree of phenotypic heterogeneity. METHODS:We studied a family with a 13-year old Chinese boy and his two elder brothers presented with infantile epileptic-dyskinetic encephalopathy and clarified the unknow...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2019.07.003

    authors: Kwong AK,Chu VL,Rodenburg RJT,Smeitink J,Fung CW

    更新日期:2019-11-01 00:00:00

  • Brain gliomas, hydrocephalus and idiopathic aqueduct stenosis in children with neurofibromatosis type 1.

    abstract:PURPOSE:To evaluate the incidence and clinical importance of brain gliomas - optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases ca...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2019.04.003

    authors: Glombova M,Petrak B,Lisy J,Zamecnik J,Sumerauer D,Liby P

    更新日期:2019-09-01 00:00:00

  • MicroRNA-31 regulating apoptosis by mediating the phosphatidylinositol-3 kinase/protein kinase B signaling pathway in treatment of spinal cord injury.

    abstract::Apoptosis is a highly conservative energy demand program for non-inflammatory cell death, which is extremely significant in normal physiology and disease. There are many techniques used for studying apoptosis. MicroRNA (miRNA) is closely related to cell apoptosis, and especially microRNA-31 (miR-31) is involved in apo...

    journal_title:Brain & development

    pub_type: 杂志文章,评审

    doi:10.1016/j.braindev.2019.04.010

    authors: Wang Y,Yuan Y,Gao Y,Li X,Tian F,Liu F,Du R,Li P,Wang F,Xu S,Wu X,Wang C

    更新日期:2019-09-01 00:00:00

  • Hyperammonemia in a case of herpes simplex and anti-N-methyl-d-aspartate receptor encephalitis.

    abstract::Herpes simplex encephalitis (HSE) is a widely accepted risk factor for anti N-methyl-d-aspartate receptor (NMDAR) encephalitis. Association of inherited metabolic disease has never been reported in a patient with HSE and anti-NMDAR encephalitis. Herein, we report a case of pediatric HSE complicated by development of a...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2019.03.013

    authors: Ko JM,Kim WJ,Kim SY,Lee JH,Chae JH,Kim KJ,Lim BC

    更新日期:2019-08-01 00:00:00

  • Efficacy of phenobarbital for benign convulsions with mild gastroenteritis: A randomized, placebo-controlled trial.

    abstract:OBJECTIVE:This study was performed to evaluate the efficacy and safety of intravenous phenobarbital (PB) for benign convulsions with mild gastroenteritis (CwG). METHODS:A randomized, single-blind, placebo-controlled trial involving patients with CwG was conducted at the Japanese Red Cross Society Himeji Hospital. Pati...

    journal_title:Brain & development

    pub_type: 杂志文章,随机对照试验

    doi:10.1016/j.braindev.2019.03.014

    authors: Takami Y,Nakagawa T

    更新日期:2019-08-01 00:00:00

  • Brain stem infarction in a 6-year-old boy with Down syndrome.

    abstract::Infarct locations in children with arterial ischemic stroke have primarily been reported to be lobar or in the basal ganglia, and those in patients with Down syndrome (DS) and antiphospholipid syndrome (APS) are typically wide and multiple. No solitary brain stem infarctions have ever been reported in children with DS...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2019.02.013

    authors: Imagi T,Matsushita T,Matsushita M,Yae Y,Yokochi T,Kawano G,Akita Y,Ohbu K,Matsuishi T

    更新日期:2019-06-01 00:00:00

  • Nutritional status among women whose pregnancy outcome was afflicted with neural tube defects in Tigray region of Ethiopia.

    abstract:BACKGROUND:Nutritional deficiency in pregnant women is a confirmed cause of neural tube defects (NTDs). Alongside to this background, We sought to determine the nutritional status and level of awareness on the issue of the NTDs as well as folic acid (FA) utilization among women who born infants with NTDs in Tigray regi...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2018.12.005

    authors: Welderufael AL,Berihu BA,Berhe Y,Magana T,Asfaw S,Gebreselassie K,Belay E,Kebede H,Mulugeta A

    更新日期:2019-05-01 00:00:00

  • MELAS syndrome with m.4450 G > A mutation in mitochondrial tRNAMet gene.

    abstract::Mutations in the mitochondrial tRNAMet gene have been reported in only five patients to date, all of whom presented with muscle weakness and exercise intolerance as signs of myopathy. We herein report the case of a 12-year-old girl with focal epilepsy since the age of eight years. At age 11, the patient developed sudd...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2019.01.006

    authors: Kuwajima M,Goto M,Kurane K,Shimbo H,Omika N,Jimbo EF,Muramatsu K,Tajika M,Shimura M,Murayama K,Kurosawa K,Yamagata T,Osaka H

    更新日期:2019-05-01 00:00:00

  • A case of dihydropyrimidinase deficiency incidentally detected by urine metabolome analysis.

    abstract::Dihydropyrimidinase deficiency is a rare autosomal recessive disease affecting the second step of pyrimidine degradation. It is caused by mutations in the DPYS gene. Only approximately 30 cases have been reported to date, with a phenotypical variability ranging from asymptomatic to severe neurological illness. We repo...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2018.10.005

    authors: Tsuchiya H,Akiyama T,Kuhara T,Nakajima Y,Ohse M,Kurahashi H,Kato T,Maeda Y,Yoshinaga H,Kobayashi K

    更新日期:2019-03-01 00:00:00

  • Genetic analysis of undiagnosed ataxia-telangiectasia-like disorders.

    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

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2018.09.007

    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

  • A novel DDC gene deletion mutation in two Chinese mainland siblings with aromatic l-amino acid decarboxylase deficiency.

    abstract:BACKGROUND:Aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM #608643) is a rare and severe disorder of biogenic amine synthesis caused by mutations in the DDC gene. The phenomenology of the movement disorder includes intermittent oculogyric crises and limb dystonia, generalized athetosis, and impaired volunta...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2018.08.003

    authors: Dai L,Ding C,Fang F

    更新日期:2019-02-01 00:00:00

  • The association of epileptic focus estimated by magnetoencephalography with cognitive function in non-lesional epilepsy with continuous spikes and waves during slow wave sleep (ECSWS) children.

    abstract:OBJECTIVE:Epilepsy with continuous spikes and waves during slow sleep (ECSWS) is associated with cognitive deficits. The underlying mechanism is thought to relate to disturbance of functions of the foci by the persistent epileptic activity. However, the relationship between epileptic foci and cognitive deficits remains...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2018.09.005

    authors: Magara S,Komatsubara T,Hojo M,Kobayashi Y,Yoshino M,Saitoh A,Tohyama J

    更新日期:2019-02-01 00:00:00

  • Neurochemistry evaluated by MR spectroscopy in a patient with xeroderma pigmentosum group A.

    abstract::MRI of a female patient with xeroderma pigmentosum group A (XP-A) showed progressive cerebral atrophy, but no disease-specific lesion. MR spectroscopy with short TE sequences in the bilateral white matter revealed decreased N-acetyl aspartate (neuro-axonal marker) and increased myo-inositol (astroglial marker) with a ...

    journal_title:Brain & development

    pub_type: 杂志文章

    doi:10.1016/j.braindev.2018.06.013

    authors: Yokota K,Sano K,Murofushi Y,Yoshimaru D,Takanashi JI

    更新日期:2018-11-01 00:00:00

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