Abstract:
:MeCP2 is a protein that selectively binds to methylated cytosines through its methyl-CpG-binding domain (MBD) and connects DNA methylation to transcriptional repression. Mutations in MECP2 gene, located in Xq28, have been reported as being the major cause of Rett syndrome and are also associated with some cases of X-linked mental retardation in both males and females. In this study, we present the first screening in the MECP2 gene in a Brazilian cohort of 239 unrelated males with idiopathic mental retardation. Eight sequence variations were observed in 10 patients: one novel putative pathogenic variant, two never described variants of unknown pathogenic value and five non-pathogenic variations. We conclude that in mentally retarded Brazilian males, non-pathogenic variants in the MECP2 gene are more common than actual pathogenic mutations, and therefore alterations in this gene have a weak relationship with mental retardation in males.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Campos M Jr,Abdalla CB,Santos-Rebouças CB,dos Santos AV,Pestana CP,Domingues ML,dos Santos JM,Pimentel MMdoi
10.1016/j.braindev.2006.09.012subject
Has Abstractpub_date
2007-06-01 00:00:00pages
293-7issue
5eissn
0387-7604issn
1872-7131pii
S0387-7604(06)00233-6journal_volume
29pub_type
杂志文章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
更新日期:2019-08-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.11.004
更新日期:2014-10-01 00:00:00
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
更新日期:2020-06-01 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
pub_type: 杂志文章
doi:10.1016/s0387-7604(86)80118-8
更新日期:1986-01-01 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
pub_type:
doi:10.1016/j.braindev.2020.04.009
更新日期:2020-09-01 00:00:00
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
更新日期:2020-02-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.08.006
更新日期:2013-06-01 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
pub_type:
doi:10.1016/j.braindev.2020.02.003
更新日期:2020-05-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.08.004
更新日期:2013-06-01 00:00:00
abstract::The author reports eight cases of the Rett syndrome, or dementia-ataxia-autism, in girls. The cases satisfy the following criteria: Normal development in the first mos of life. Profound deterioration of the mental status over a period of several mos. Behavioral pseudoautistic abnormalities. Presence of neurological si...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(85)80030-9
更新日期:1985-01-01 00:00:00
abstract::In 1908 a Viennese remedial educator Theodor Heller described six children under the name of dementia infantilis who had insidiously developed a severe mental regression between the 3rd and 4th years of life after normal mental development. Neuropathological and other medical conditions are sometimes associated with t...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(02)00228-0
更新日期:2003-06-01 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
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(02)00003-7
更新日期:2002-04-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2020.01.001
更新日期:2020-04-01 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
pub_type: 杂志文章
doi:10.1016/s0387-7604(82)80008-9
更新日期:1982-01-01 00:00:00
abstract::Cutis laxa (CL) syndromes are connective tissue disorders characterized by redundant, sagging, inelastic and wrinkled skin, with organ involvement. Here, we describe a patient with ALDH18A1-related CL who developed cyclic vomiting. The patient was a 12-year-old boy who presented with poor postnatal growth, hypotonia, ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.01.003
更新日期:2016-08-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2012.03.009
更新日期:2013-02-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to develop and introduce new method to quantify motor functions of the upper extremity. METHODS:The movement was recorded using a three-dimensional motion capture system, and the movement trajectory was analyzed using newly developed two indices, which measure precise repeatability ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2017.12.003
更新日期:2018-03-01 00:00:00
abstract::Hypoxic ischemic brain can result in cerebral palsy, mental retardation, and learning disabilities in surviving children. The purpose of this study was to elucidate the cerebral blood flow volume in infants complicated with brain damage after the birth. Nine term infants with hypoxic ischemic encephalopathy and 41 nor...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2007.08.008
更新日期:2008-04-01 00:00:00
abstract::We performed screening of beta-galactosidase-deficient fibroblasts for possible chemical chaperone therapy using N-octyl-4-epi-beta-valienamine (NOEV) in patients with GM1-gangliosidosis and Morquio B disease (beta-galactosidosis). Fibroblasts were cultured with NOEV for 4 days and beta-galactosidase activity was meas...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.02.002
更新日期:2006-09-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.01.005
更新日期:2010-03-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.02.006
更新日期:2010-11-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2014.12.004
更新日期:2015-09-01 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
pub_type: 杂志文章
doi:10.1016/s0387-7604(81)80054-x
更新日期:1981-01-01 00:00:00
abstract::This study examined paroxysmal abnormalities and epilepsy in EEG for individuals with pervasive developmental disorders (PDD) in two parts: first with a large number of subjects (n=1624); and second with extracted subjects followed from 5 years into adolescence and beyond (n=92). Many paroxysms in PDD patients in thei...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2010.06.004
更新日期:2010-10-01 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
pub_type: 杂志文章
doi:10.1016/j.braindev.2013.02.004
更新日期:2013-09-01 00:00:00
abstract::The sixth case of hydranencephaly in a twin is reported. The patient is an 11-year-old girl, and her twin was stillborn and macerated. Intrauterine disseminated intravascular coagulation may be the cause of hydranencephaly in this patient. ...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(80)80026-x
更新日期:1980-01-01 00:00:00
abstract::Organic acidemias (OAs) have been detected worldwide in symptomatic patients using gas chromatography mass spectrometry. We diagnosed 188 Asian cases of OAs by analysis of urinary organic acids and investigated their clinical onset and outcome. Methylmalonic acidemia (MMA) was most common (74 cases), followed by propi...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2004.04.004
更新日期:2005-01-01 00:00:00
abstract::Generalized lymphatic anomaly is a multifocal lymphatic malformation that affects the skin, thoracic viscera, and bones. A 3year-old Japanese boy presented with right facial palsy due to cystic tumors in the ipsilateral petrous bone. Pericardial effusion had been found incidentally and generalized lymphatic anomaly ha...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.12.007
更新日期:2017-05-01 00:00:00
abstract::The objective of our study was to determine the relation between the serum level of endotoxin at birth and the development of periventricular leukomalacia (PVL) in preterm infants. We studied 68 preterm infants whose gestational ages ranged between 27 and 33 weeks, and birthweights between 1000 and 2000 g. The serum e...
journal_title:Brain & development
pub_type: 临床试验,杂志文章
doi:10.1016/s0387-7604(99)00036-4
更新日期:1999-09-01 00:00:00
abstract::Thirteen to 43% of patients with infantile spasms (IS) have other types of seizures, which are considered a feature of an unfavourable prognosis and, to some extent, as a contra-indication for steroid treatment. The present series comprised 43 patients treated with steroids, who suffered from other types of seizures p...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80311-1
更新日期:1990-01-01 00:00:00