Abstract:
:Doublecortin (DCX) and tubulin play critical roles in neuronal migration. DCX mutations usually cause anterior dominant lissencephaly in males and subcortical band heterotopia (SBH) in females. We used whole-exome sequencing to investigate causative gene variants in a large family with late-childhood-onset focal epilepsy and anterior dominant pachygyria without SBH in both genders. Two potential variants were found for the genes encoding DCX and beta tubulin isotype 1 (TUBB1). The novel DCX mutation (p.D90G, NP_000546.2) appeared to be a major causative variant, whereas the novel mutation of TUBB1 (p.R62fsX, NP_110400.1) was found only in patients with more-severe intellectual disability after gender matching. We report an unusual DCX-related disorder exhibiting familial pachygyria without SBH in both genders.
journal_name
Brain Devjournal_title
Brain & developmentauthors
Kim YO,Nam TS,Park C,Kim SK,Yoon W,Choi SY,Kim MK,Woo YJdoi
10.1016/j.braindev.2015.12.005subject
Has Abstractpub_date
2016-06-01 00:00:00pages
585-9issue
6eissn
0387-7604issn
1872-7131pii
S0387-7604(15)00259-4journal_volume
38pub_type
杂志文章abstract::We report a 20-month-old girl with an unruptured aneurysm of the middle cerebral artery. The initial sign was complex partial seizures. Magnetic resonance angiography showed an aneurysm of the right middle cerebral artery. Cerebral angiography confirmed the presence of a saccular aneurysm. After 3 months, the aneurysm...
journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90076-0
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journal_title:Brain & development
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doi:10.1016/s0387-7604(01)00215-7
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(95)00047-f
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(79)80046-7
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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
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.12.013
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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.2018.12.005
更新日期:2019-05-01 00:00:00
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journal_title:Brain & development
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doi:10.1016/s0387-7604(12)80154-9
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journal_title:Brain & development
pub_type: 杂志文章,评审
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更新日期:2014-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2018.01.012
更新日期:2018-06-01 00:00:00
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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/S0387-7604(03)00125-6
更新日期:2004-04-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2008.04.006
更新日期:2009-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(88)80095-0
更新日期:1988-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/j.braindev.2008.07.011
更新日期:2009-02-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(82)80070-3
更新日期:1982-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2016.10.001
更新日期:2017-03-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(12)80123-9
更新日期:1991-01-01 00:00:00
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/s0387-7604(01)00407-7
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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
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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/j.braindev.2009.11.005
更新日期:2010-04-01 00:00:00
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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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journal_title:Brain & development
pub_type: 杂志文章
doi:10.1016/0387-7604(94)90003-5
更新日期:1994-11-01 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)90060-l
更新日期:1993-05-01 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/j.braindev.2012.10.016
更新日期:2013-10-01 00:00:00
abstract::The incidence of brain tumors in children under 15 years of age in the United States is 2.4/100,000. Based upon a US population of approximately 60 million black and white children, there are only 1,200-1,500 newly diagnosed causes of CNS neoplasia diagnosed in children each year in the US. These relatively small numb...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:10.1016/s0387-7604(89)80017-8
更新日期:1989-01-01 00:00:00
abstract::Amongst the motor, mental, cognitive and emotional symptoms of the Rett syndrome (RS) the motor symptoms stand out as the hallmark in analyzing the essential pathophysiology. Summarizing the motor symptoms and searching into the knowledge of relevant basic sciences, this report aims at stressing the pathophysiological...
journal_title:Brain & development
pub_type: 杂志文章,评审
doi:
更新日期:1992-05-01 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