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 developmental delay prior to the age of 6 months and later exhibited characteristic features of RTT that included air swallowing, bruxism, and hand stereotypies. Results of an array-based comparative genomic hybridization analysis indicated there was a very small microdeletion in Xq28. Multiplex ligation-dependent probe amplification analysis further confirmed there were heterozygous deletions of intron 2, exon 3, intron 3, and part of exon 4 in MECP2. Findings in the present patient confirm the view that large MECP2 deletions are an important cause of severe congenital variant RTT. To ensure an accurate diagnosis of congenital variant RTT, a multiplex ligation-dependent probe amplification analysis of MECP2 should be performed in patients suspected of having this disorder.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Kobayashi Y,Ohashi T,Akasaka N,Tohyama Jdoi
10.1016/j.braindev.2011.09.014subject
Has Abstractpub_date
2012-08-01 00:00:00pages
601-4issue
7eissn
0387-7604issn
1872-7131pii
S0387-7604(11)00289-0journal_volume
34pub_type
杂志文章abstract：:Inborn errors of metabolism comprise a large class of genetic diseases involving disorders of metabolism. Presentation is usually in the neonatal period or infancy but can occur at any time, even in adulthood. Seizures are frequent symptom in inborn errors of metabolism, with no specific seizure types or EEG signature...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/j.braindev.2012.11.010
更新日期：2013-10-01 00:00:00
abstract：:Overnight sleep polygrams were recorded before and during therapy in nine patients with infantile spasms. Results showed that ACTH therapy increased the waking time and decreased rapid eye movement sleep. Thus it caused sleep disturbance in patients with infantile spasms. During ACTH therapy the number of rapid eye mo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(81)80006-x
更新日期：1981-01-01 00:00:00
abstract：:The development of the human inferior collicular nucleus was studied on serial sections of the brains of 9 fetuses at 12-34 weeks of gestation and an adult of 63 years using an electronic planimeter with a computer. Morphometric analysis of the development of the inferior collicular nucleus showed that its development...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00089-5
更新日期：1996-01-01 00:00:00
abstract：:A 1-year-old male began suffering from West syndrome at 3 months of age, when electroencephalography revealed hypsarrhythmia accompanied by a periodic, brief suppression phase. The administration of adrenocorticotropic hormone was partially effective for stopping the condition, and the seizure type evolved into brief ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.05.002
更新日期：2013-03-01 00:00:00
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
更新日期：2019-11-01 00:00:00
abstract：:Hyperprolinemia type I (HPI) results from a deficiency of proline oxidase (POX), involved in the first step in the conversion of proline to glutamate. Diverse phenotypes were described in patients with HPI, prior to the identification of the POX gene (PRODH): whereas various patients were asymptomatic, others had neur...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2007.01.008
更新日期：2007-10-01 00:00:00
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
更新日期：2020-10-01 00:00:00
abstract：OBJECTIVE:Autonomic nervous system activity is recognized as a major component of emotional responses. Future reward/punishment expectations depend upon the process of decision making in the frontal lobe, which is considered to play an important role in executive function. The aim of this study was to investigate the r...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.03.004
更新日期：2017-08-01 00:00:00
abstract：:We evaluated the usefulness of intravenous lidocaine therapy for managing of status epilepticus (SE) during childhood in a retrospective multi-institutional study. Questionnaires were sent to 28 hospitals concerning patients admitted for SE who were managed with lidocaine, assessing patient characteristics, treatment ...
journal_title：Brain & development
pub_type： 杂志文章,多中心研究
doi：10.1016/j.braindev.2007.12.016
更新日期：2008-09-01 00:00:00
abstract：:Factors useful to predict seizure frequency and duration of antiepileptic treatment of children with benign partial epilepsy and rolandic spikes were retrospectively evaluated in 72 patients seizure-free for at least 5 years and off antiepileptic drugs for at least 2 years. Three groups were considered: Group I, 11 pa...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(87)80049-9
更新日期：1987-01-01 00:00:00
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journal_title：Brain & development
pub_type： 临床试验,杂志文章
doi：10.1016/s0387-7604(02)00230-9
更新日期：2003-06-01 00:00:00
abstract：:Neopterin and biopterin concentrations were measured in cerebrospinal fluid (CSF) and urine samples from controls less than 1 year old. This is the first time for CSF reference data for controls less than 1 year old to be reported. The ratio of neopterin to biopterin in CSF 0-30 days (n = 48) of age in control samples...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(99)00021-2
更新日期：1999-06-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,随机对照试验
doi：10.1016/j.braindev.2019.03.014
更新日期：2019-08-01 00:00:00
abstract：:Congenital cerebellar ataxia is usually thought to be of cerebellar origin. We report two children with congenital cerebellar ataxia, in whom neuroimaging investigations suggest the possibility of a parietal etiology. The two boys showed hypotonia, delayed motor and cognitive development followed by marked, truncally ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00021-7
更新日期：1998-06-01 00:00:00
abstract：OBJECTIVE:Rubinstein-Taybi syndrome (RSTS) is a rare congenital disorder (1:125.000) characterized by growth retardation, psychomotor developmental delay, microcephaly and dysmorphic features. In 25% of patients seizures have been described, and in about 66% a wide range of EEG abnormalities, but studies on neurologica...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.12.003
更新日期：2016-06-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(95)00141-7
更新日期：1996-03-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2014.06.011
更新日期：2015-04-01 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
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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：:The aim of this study was to evaluate respiratory function of severely handicapped children. Tidal volumes and respiratory rates were determined in a total of 130 children with different clinical motor abilities. Tidal volume of non-sitters (n = 39) was significantly lower than ambulators (n = 49) or sitters (n = 42) ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80067-2
更新日期：1990-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.09.009
更新日期：2010-09-01 00:00:00
abstract：:Clobazam was added to the previous antiepileptic drug therapy of 90 children suffering from drug resistant epilepsy. Ten patients became seizure free, although four of these later developed tolerance. Thirty-three patients experienced a decrease in seizure frequency, and 24 of these, too, developed tolerance. Forty-fo...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80025-8
更新日期：1991-05-01 00:00:00
abstract：:Molybdenum cofactor deficiency is a rare and devastating disease leading to intractable seizures in the neonatal period. Severe loss of neocortical neurons, gliosis, and cystic necrosis of cerebral white matter resulting in significant cerebral volume loss are the neuropathological findings. The mechanism of cerebral ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00316-3
更新日期：2001-12-01 00:00:00
abstract：OBJECTIVE:We retrospectively reviewed six patients with incontinentia pigmenti (IP) who had encephalopathic manifestations during early infancy. METHODS:We enrolled six patients who met the following criteria from the mailing list of the Annual Zao Conference: (1) diagnosis of IP; (2) encephalopathic manifestations wi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.04.002
更新日期：2011-01-01 00:00:00
abstract：:Typical Cockayne syndrome was seen in a boy and his younger sister and these two cases are reported here, and reported cases of the syndrome in Japan are summarized. Both cases (an 11-year-old boy and a 7-year-old girl) had dwarfism, a senile face, retinitis pigmentosa, photosensitivity, and mental retardation. Calciu...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(79)80046-7
更新日期：1979-01-01 00:00:00
abstract：:Choline kinase beta gene (CHKB) mutations have been identified in Megaconial Congenital Muscular Dystrophy (MDCMC) patients, a very rare inborn error of metabolism with 21 cases reported worldwide. We report the case of a Spanish boy of Caucasian origin who presented a generalized congenital muscular hypotonia, more i...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2015.05.008
更新日期：2016-01-01 00:00:00
abstract：:Neonatal focal cerebral arterial infarction has been rarely reported in the literature, in contrast to the watershed infarctions, which are common entities among asphyxiated infants. In neonatal postmortem series, thromboembolism was the commonest cause of cerebral arterial occlusion; the source of emboli was associat...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80344-5
更新日期：1992-11-01 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
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.04.005
更新日期：2020-08-01 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：: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
pub_type： 杂志文章
doi：10.1016/s0387-7604(01)00192-9
更新日期：2001-03-01 00:00:00
