Abstract：
:Here we describe two patients with 5p- syndrome who suffered from epilepsy characterised by stimulus-induced epileptic spasms manifesting as head nodding. In patient 1, a series of spasms were exclusively triggered by eating, and were associated with diffuse high-voltage slow waves on ictal EEG, particularly presenting as a positive slow potential at the left mid-temporal area. Clusters of sharp waves with negative polarity emerged in the same area during the inter-spasm periods during eating. In patient 2, spasms were provoked by either eating or micturition. Ictal EEG of clustered spasms after micturition showed positive slow or triphasic waves, which correlated with each spasm, over the bifrontal and vertex areas. These findings suggest that the focal cortical areas act as trigger regions in reflex epilepsies, and that a spasm-generator responsible for the execution of reflex spasms exists either in other cortical areas or in the subcortical structures. Although epilepsy is an unusual complication of 5p- syndrome, this syndrome may have a propensity to develop reflex epilepsy, particularly epileptic spasms. However, identification of responsible genes and their roles in this phenotype requires further investigations.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Shirai K,Saito Y,Yokoyama A,Nishimura Y,Tamasaki A,Maegaki Ydoi
10.1016/j.braindev.2015.08.002subject
Has Abstractpub_date
2016-02-01 00:00:00pages
261-5issue
2eissn
0387-7604issn
1872-7131pii
S0387-7604(15)00156-4journal_volume
38pub_type
杂志文章abstract：:Bedside monitoring of cerebral circulation or oxygen metabolism in infants to appropriately manage circulation and establish the oxygen dose, aiming at improving the neurological prognosis, is needed in general clinical practice. Near-infrared spectroscopy is used for measurements of neonatal cerebral Hb oxygen satura...
journal_title：Brain & development
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pub_type： 杂志文章
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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.2017.06.004
更新日期：2018-01-01 00:00:00
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pub_type： 临床试验,杂志文章
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journal_title：Brain & development
pub_type：
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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/s0387-7604(97)00032-6
更新日期：1997-07-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80066-x
更新日期：1989-01-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/s0387-7604(89)80063-4
更新日期：1989-01-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/s0387-7604(12)80025-8
更新日期：1991-05-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章,评审
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更新日期：2002-08-01 00:00:00
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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
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pub_type： 杂志文章
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pub_type： 杂志文章
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更新日期：2004-03-01 00:00:00
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更新日期：2013-06-01 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：2020-05-01 00:00:00
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pub_type： 杂志文章
doi：10.1016/j.braindev.2012.05.002
更新日期：2013-03-01 00:00:00
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更新日期：2000-05-01 00:00:00
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pub_type： 杂志文章,评审
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更新日期：2010-01-01 00:00:00
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pub_type： 杂志文章
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更新日期：2014-06-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/j.braindev.2011.07.005
更新日期：2012-05-01 00:00:00
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journal_title：Brain & development
pub_type： 杂志文章
doi：10.1016/s0387-7604(98)00036-9
更新日期：1998-08-01 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
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journal_title：Brain & development
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doi：10.1016/j.braindev.2019.07.003
更新日期：2019-11-01 00:00:00
