Somatic Variants and Surgical Epilepsies: Search and You Will Find.
作者信息
Andrade Danielle M
机构信息
Neurology, University of Toronto.
出版信息
Epilepsy Curr. 2023 May 4;23(3):196-198. doi: 10.1177/15357597231164276. eCollection 2023 May-Jun.
Abstract
摘要
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本文引用的文献
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Somatic Mosaic Pathogenic Variant Gradient Detected in Trace Brain Tissue From Stereo-EEG Depth Electrodes.在立体脑电图深度电极的微量脑组织中检测到体细胞镶嵌性致病性变异梯度。
Neurology. 2022 Dec 5;99(23):1036-1041. doi: 10.1212/WNL.0000000000201469.
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Detection of brain somatic variation in epilepsy-associated developmental lesions.检测癫痫相关发育性病变中的脑躯体变异。
Epilepsia. 2022 Aug;63(8):1981-1997. doi: 10.1111/epi.17323. Epub 2022 Jun 23.
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Somatic mosaicism correlates with clinical findings in epilepsy brain tissue.体细胞嵌合现象与癫痫脑组织中的临床发现相关。
Neurol Genet. 2020 Jun 17;6(4):e460. doi: 10.1212/NXG.0000000000000460. eCollection 2020 Aug.
4
Germline and somatic FGFR1 abnormalities in dysembryoplastic neuroepithelial tumors.胚胎发育不良性神经上皮肿瘤中的胚系和体细胞FGFR1异常
Acta Neuropathol. 2016 Jun;131(6):847-63. doi: 10.1007/s00401-016-1549-x. Epub 2016 Feb 26.
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BRAF V600E mutation in neocortical posterior temporal epileptogenic gangliogliomas.新皮质后颞叶致痫性节细胞胶质瘤中的BRAF V600E突变
J Clin Neurosci. 2015 Aug;22(8):1250-3. doi: 10.1016/j.jocn.2015.02.016. Epub 2015 Apr 27.
6
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.
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Somatic activation of AKT3 causes hemispheric developmental brain malformations.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.
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A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy.神经元烟碱型乙酰胆碱受体α4亚基的错义突变与常染色体显性遗传性夜间额叶癫痫相关。
Nat Genet. 1995 Oct;11(2):201-3. doi: 10.1038/ng1095-201.
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