Abstract：
:Two brothers, aged 6 and 4 years, with an unbalanced chromosome translocation (partial trisomy 1), and their mother, a balanced carrier of the translocation, t(1;3)(q42.3;p26.3), were described. Both patients show minor anomalies; a large head with a prominent forehead, low-set and soaring ears, a high-arched palate, a shallow nasal bridge, hypertelorism, and slender hands and feet. The manifestations in our cases were very mild compared to in the previously reported cases of partial trisomy 1. And our patients exhibit psychomotor retardation and ventricular dilatation on brain CT. We speculated that the amount of extra material reflects the phenotype. Our cases and previous reports indicate that the minimum clinical features of partial trisomy 1 are poor psychomotor development, a prominent forehead, and slender hands and feet. And many cases have macrocephaly with ventricular dilatation or hydrocephalus. So these features may be a key for the diagnosis of very mild partial trisomy 1.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Sunaga Y,Ohtsuka T,Nagashima K,Kuroume Tdoi
10.1016/0387-7604(93)90048-dsubject
Has Abstractpub_date
1993-03-01 00:00:00pages
119-24issue
2eissn
0387-7604issn
1872-7131pii
0387-7604(93)90048-Djournal_volume
15pub_type
杂志文章abstract：:Molecular background of neurogenetic disease is briefly reviewed. Importance and usefulness of genetic testing are emphasized. Molecular genetics is a powerful tool for investigation of epileptic syndromes. Diagnosis based on gene analysis will give a new insight for pathophysiology and clinical outcome of the patient...
journal_title：Brain & development
pub_type： 历史文章,杂志文章,评审
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更新日期：2011-10-01 00:00:00
abstract：BACKGROUND:The characteristics of epilepsy in patients with Kabuki syndrome with KMT2D mutations (KABUK1) have not yet been well documented. This is the first review to explore this. MATERIALS & METHODS:We enrolled 14 patients with KABUK1, whose median age was 13.6years (range=4.1-21.3years). Their medical records fro...
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journal_title：Brain & development
pub_type： 杂志文章
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90032-9
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journal_title：Brain & development
pub_type： 杂志文章
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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
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.09.007
更新日期：2005-08-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.04.010
更新日期：2020-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.04.010
更新日期：2010-08-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：1989-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.04.008
更新日期：2018-09-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/S0387-7604(03)00161-X
更新日期：2004-06-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(96)00496-2
更新日期：1997-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2010.12.001
更新日期：2011-06-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2020.08.007
更新日期：2021-02-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2004.02.015
更新日期：2005-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2013.01.007
更新日期：2014-02-01 00:00:00
abstract：:Autism is now widely accepted as a biological disorder which, by and large, starts before birth. It has been shown that serotonin (5-HT) is associated with several psychological processes and hyperserotoninemia is observed in some autistic patients. The results of previous reports about family-based association studie...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.09.003
更新日期：2006-05-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(84)80009-1
更新日期：1984-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/0387-7604(94)90114-7
更新日期：1994-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2005.07.003
更新日期：2006-04-01 00:00:00
abstract：:Mutations of the gene encoding the alpha2 subunit of the neuronal sodium channel, SCN2A, have been found in benign familial neonatal-infantile seizures (BFNIS). In Dravet syndrome, only one nonsense mutation of SCN2A was identified, while hundreds of mutations were found in the paralogue gene, SCN1A, which encodes the...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.08.009
更新日期：2009-11-01 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
abstract：:Altered maternal micronutrients (folic acid, vitamin B(12)) are suggested to be at the heart of intra-uterine programming of adult diseases. We have recently described interactions of folic acid, vitamin B(12) and docosahexaenoic acid in one carbon metabolism that is considered to play a key role in regulation oxidati...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.01.002
更新日期：2012-01-01 00:00:00
abstract：:The neuropathological examination of the brain of a 4-month-old girl with Aicardi syndrome (infantile spasms, chorioretinal lacunae, psychomotor retardation, agenesis of the corpus callosum and vertebral anomalies) showed agenesis of the corpus callosum, agenesis of the anterior commissure and abnormal orientation of ...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(86)80097-3
更新日期：1986-01-01 00:00:00
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
更新日期：2019-02-01 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
pub_type： 杂志文章
doi：10.1016/s0387-7604(79)80017-0
更新日期：1979-01-01 00:00:00
abstract：OBJECTIVE:In order to evaluate whether face perception is intact or not in Williams syndrome (WS), the face inversion effects (FIE) in the event-related potential (ERP) or magnetoencephalography (MEG) were investigated in three teenaged patients with WS. METHODS:Responses to the inverted faces and upright faces were c...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.05.010
更新日期：2013-04-01 00:00:00
abstract：:We investigated the neuroprotective effects of human placental extracts (HPE) and the effects of HPE on recovery of cognitive and behavioral function on hypoxic-ischemic brain injury in the newborn rat. The right common carotid arteries of 7-day-old rats were coagulated, and rats were then exposed to 8% oxygen. Immedi...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.01.009
更新日期：2013-01-01 00:00:00
abstract：:Approximately 10% of patients with systemic lupus erythematosus (SLE) develop epileptic seizures. When occurring before the onset of generalized SLE, the seizures are mainly primary generalized. Accordingly, long-term treatment with anti-epileptic drugs may precipitate SLE, or epilepsy and SLE may both occur as manife...
journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/0387-7604(93)90005-s
更新日期：1993-01-01 00:00:00
