Abstract：
:The occurrence of seizures in patients with fragile X syndrome (Fra-X) is reported. Among the 30 patients, six had epilepsy that was particularly severe and two also showed atypical facial dysmorphism that was different from that seen in classical Fra-X. From the study performed in this series of Fra-X patients the authors arrived at the following conclusions. (1) The occurrence of seizures in Fra-X population is around 20%, as reported in the literature. (2) The EEG pattern of benign childhood epilepsy with central-temporal spikes (BCECTS) was found in only three patients (10%). (3) According to the pattern of seizures and EEGs, four groups may be recognizable, the less frequent being the uncommon group characterized by severe epilepsy unresponsive to treatment. (4) In this group atypical facial dysmorphism (although not similar in the two patients and different from the classical facial pattern of Fra-X) was found. The authors maintain that additional genetic factors might influence the clinical course and neurological aspects of Fra-X syndrome.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Incorpora G,Sorge G,Sorge A,Pavone Ldoi
10.1016/s0387-7604(02)00102-xkeywords:
subject
Has Abstractpub_date
2002-12-01 00:00:00pages
766-9issue
8eissn
0387-7604issn
1872-7131pii
S038776040200102Xjournal_volume
24pub_type
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：1986-01-01 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：2017-04-01 00:00:00
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更新日期：1996-09-01 00:00:00
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更新日期：2014-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2017.07.003
更新日期：2018-01-01 00:00:00
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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
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journal_title：Brain & development
pub_type： 杂志文章
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更新日期：2017-08-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.12.010
更新日期：2014-01-01 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：2014-10-01 00:00:00
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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
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2018.08.003
更新日期：2019-02-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.04.004
更新日期：2010-05-01 00:00:00
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更新日期：1981-01-01 00:00:00
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更新日期：2009-10-01 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：2015-01-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00155-9
更新日期：2003-03-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,评审
doi：10.1016/s0387-7604(03)00058-5
更新日期：2003-10-01 00:00:00
abstract：BACKGROUND:Rett syndrome is a severe genetic neurodevelopmental disorder mainly affecting females. The aim of this study was to describe pubertal development in a population-based cohort of females with Rett syndrome. METHODS:To assess pubertal trajectory we used six waves of data provided by parents of girls and wome...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.11.007
更新日期：2013-11-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00217-6
更新日期：2003-04-01 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：: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
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2009.01.003
更新日期：2010-03-01 00:00:00
abstract：:The present study analyzed changes in cerebral blood volume (CBV) during apnea associated with hypoxia compared to apnea without hypoxia. Hypoxia was defined as pulsoxymetric oxygen saturation <80%>10 s. The employed technique was near infrared spectroscopy combined with electrocardiogram, electroocologram, pulsoxymet...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(02)00121-3
更新日期：2003-01-01 00:00:00
abstract：:We present the case of a Japanese male infant with Alexander disease who developed infantile spasms at 8 months of age. The patient had a cluster of partial seizures at 4 months of age. He presented with mild general hypotonia and developmental delay. Macrocephaly was not observed. Brain magnetic resonance imaging (MR...
journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2012.06.009
更新日期：2013-05-01 00:00:00
