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Genetics: mutations in mTOR pathway linked to megalencephaly syndromes.

作者信息

Striano Pasquale, Zara Federico

出版信息

Nat Rev Neurol. 2012 Oct;8(10):542-4. doi: 10.1038/nrneurol.2012.178. Epub 2012 Aug 21.

DOI:10.1038/nrneurol.2012.178
PMID:22907262
Abstract
摘要

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Targeted next-generation sequencing provides novel clues for associated epilepsy and cardiac conduction disorder/SUDEP.靶向二代测序为相关性癫痫和心脏传导障碍/癫痫性猝死提供了新线索。

本文引用的文献

1
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.AKT3、PIK3R2 和 PIK3CA 中的新生种系和后成体突变导致一系列相关的巨脑畸形综合征。
Nat Genet. 2012 Jun 24;44(8):934-40. doi: 10.1038/ng.2331.
2
De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.PI3K-AKT3-mTOR 通路组件中的从头发生的体细胞突变导致偏侧巨脑畸形。
Nat Genet. 2012 Jun 24;44(8):941-5. doi: 10.1038/ng.2329.
3
Somatic activation of AKT3 causes hemispheric developmental brain malformations.
PLoS One. 2017 Dec 19;12(12):e0189618. doi: 10.1371/journal.pone.0189618. eCollection 2017.
4
Brain Development and Akt Signaling: the Crossroads of Signaling Pathway and Neurodevelopmental Diseases.大脑发育与Akt信号传导:信号通路与神经发育疾病的交叉点
J Mol Neurosci. 2017 Mar;61(3):379-384. doi: 10.1007/s12031-016-0872-y. Epub 2016 Dec 26.
5
NPAS1 represses the generation of specific subtypes of cortical interneurons.NPAS1抑制皮质中间神经元特定亚型的生成。
Neuron. 2014 Dec 3;84(5):940-53. doi: 10.1016/j.neuron.2014.10.040. Epub 2014 Nov 20.
6
Hydranencephaly: cerebral spinal fluid instead of cerebral mantles.积水性无脑畸形:脑脊液替代了大脑皮质。
Ital J Pediatr. 2014 Oct 18;40:79. doi: 10.1186/s13052-014-0079-1.
7
Mechanisms of epileptogenesis: a convergence on neural circuit dysfunction.癫痫发生机制:神经回路功能障碍的汇聚。
Nat Rev Neurosci. 2013 May;14(5):337-49. doi: 10.1038/nrn3482. Epub 2013 Apr 18.
8
Hemihydranencephaly: living with half brain dysfunction.无脑畸形伴单侧脑半球功能障碍:半脑功能障碍的生活。
Ital J Pediatr. 2013 Jan 16;39:3. doi: 10.1186/1824-7288-39-3.
AKT3 的体细胞激活导致半球性脑发育畸形。
Neuron. 2012 Apr 12;74(1):41-8. doi: 10.1016/j.neuron.2012.03.010.
4
Targeting PI3 kinase/AKT/mTOR signaling in cancer.靶向癌症中的PI3激酶/AKT/mTOR信号通路。
Crit Rev Oncog. 2012;17(1):69-95. doi: 10.1615/critrevoncog.v17.i1.60.
5
Megalencephaly-capillary malformation (MCAP) and megalencephaly-polydactyly-polymicrogyria-hydrocephalus (MPPH) syndromes: two closely related disorders of brain overgrowth and abnormal brain and body morphogenesis.巨脑-毛细血管畸形(MCAP)和巨脑-多趾-多小脑回-脑积水(MPPH)综合征:两种与脑过度生长和脑及身体形态发育异常相关的密切相关疾病。
Am J Med Genet A. 2012 Feb;158A(2):269-91. doi: 10.1002/ajmg.a.34402. Epub 2012 Jan 6.
6
Everolimus: an mTOR inhibitor for the treatment of tuberous sclerosis.依维莫司:一种用于治疗结节性硬化症的 mTOR 抑制剂。
Expert Rev Anticancer Ther. 2011 Aug;11(8):1181-92. doi: 10.1586/era.11.93.
7
A mosaic activating mutation in AKT1 associated with the Proteus syndrome.AKT1 中的镶嵌激活突变与Proteus 综合征相关。
N Engl J Med. 2011 Aug 18;365(7):611-9. doi: 10.1056/NEJMoa1104017. Epub 2011 Jul 27.
8
Mammalian target of rapamycin (mTOR) inhibition as a potential antiepileptogenic therapy: From tuberous sclerosis to common acquired epilepsies.雷帕霉素靶蛋白(mTOR)抑制作为一种潜在的抗癫痫发生治疗:从结节性硬化症到常见的获得性癫痫。
Epilepsia. 2010 Jan;51(1):27-36. doi: 10.1111/j.1528-1167.2009.02341.x. Epub 2009 Oct 8.
9
Macrocephaly syndromes.
Semin Pediatr Neurol. 2007 Sep;14(3):128-35. doi: 10.1016/j.spen.2007.07.004.
10
Epidemiology of hemimegalencephaly: a case series and review.
Am J Med Genet A. 2005 Dec 15;139(3):204-11. doi: 10.1002/ajmg.a.31024.