Abstract:
AIM:To describe beneficial effects of callosotomy on KCNQ2-related intractable epilepsy. CASE REPORT:Our patient was a 10-year-old girl who had developed epilepsy during the neonatal period, accompanied by a suppression-burst pattern on the electroencephalography (EEG). The patient showed profound psychomotor developmental delay since early infancy. Daily seizures of versive posturing and ocular deviation were transiently controlled by carbamazepine and valproate at the age of 1 year; however, the seizures gradually increased to up to 50 times per day. Ictal EEG and positron emission tomography revealed an epileptic focus in the left frontal lobe at age 5 years. Total callosotomy resulted in marked reduction of epileptic seizures thereafter, as well as improved responses to external auditory and visual stimuli. Whole exome sequencing at age 9 identified a de novo missense variant in KCNQ2 (NM_172107.3:c.563A > C:p.(Gln188Pro)). CONCLUSION:This case supports that epilepsy surgery could benefit children with epileptic encephalopathy, even with the etiology of channelopathy.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Yamamoto A,Saito Y,Oyama Y,Watanabe Y,Ikeda A,Takayama R,Ikeda H,Takeshita S,Takumi I,Itai T,Miyatake S,Matsumoto Ndoi
10.1016/j.braindev.2020.05.005subject
Has Abstractpub_date
2020-09-01 00:00:00pages
612-616issue
8eissn
0387-7604issn
1872-7131pii
S0387-7604(20)30146-7journal_volume
42pub_type
abstract::The abnormalities of intracranial hemodynamics associated with strokelike episodes in MELAS are variable depend on the time phase from the onset of strokelike episodes and on the progression of the dementia state. To clarify the regional cerebral blood flows (rCBF) in the natural course of MELAS is very important to u...
journal_title:Brain & development
pub_type: 杂志文章
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journal_title:Brain & development
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journal_title:Brain & development
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pub_type: 杂志文章
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pub_type: 杂志文章,随机对照试验
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journal_title:Brain & development
pub_type: 杂志文章
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doi:10.1016/j.braindev.2006.08.004
更新日期:2007-04-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/0387-7604(93)90024-3
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2006.08.008
更新日期:2007-04-01 00:00:00
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pub_type: 临床试验,杂志文章
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更新日期:1990-01-01 00:00:00
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pub_type: 杂志文章,评审
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更新日期:2007-05-01 00:00:00
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更新日期:2018-10-01 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:2016-06-01 00:00:00
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更新日期:2018-01-01 00:00:00
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pub_type: 杂志文章
doi:10.1016/s0387-7604(81)80009-5
更新日期:1981-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(83)80005-9
更新日期:1983-01-01 00:00:00
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journal_title:Brain & development
pub_type: 临床试验,杂志文章
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更新日期:2002-04-01 00:00:00
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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::The relationship between febrile seizures and hippocampal sclerosis has been the subject of longstanding discussion. Animal models for prolonged seizures have shown a clear causal relationship with focal limbic features at low dose and hippocampal damage at high dose. Careful history taking of febrile seizure semiolog...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2009.09.013
更新日期:2010-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.09.005
更新日期:2019-02-01 00:00:00