Genomic variants and variations in malformations of cortical development.
Genomic variants and variations in malformations of cortical development.
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DOI：
10.1016/j.pcl.2015.03.002
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发表时间：
2015-06
影响因子：
2.6
通讯作者：
Walsh, Christopher A.
中科院分区：
文献类型：
--
作者：
Jamuar, Saumya S.;Walsh, Christopher A.
关键词：
皮质发育畸形 (MCD) 是神经发育迟缓和癫痫的常见原因，是由大脑皮层正常发育中断引起的。过去几年，遗传工具的进步扩大了我们对这些畸形遗传学的理解，在 MCD 患者中发现了许多新的致病基因。此外，已知基因的表型特征已大幅扩展，报告的畸形范围广泛且严重。越来越多的证据表明新生突变（包括受精后发生的突变）在 MCD 中的作用。这些“体细胞”突变可能无法通过传统的血液 DNA 基因检测方法检测到。遗传病因的鉴定有助于指导家庭未来的怀孕。最近的工作强调了关键分子途径的阐明如何也可以允许有针对性的治疗干预。
Malformations of cortical development (MCD) are a common cause of neurodevelopmental delay and epilepsy and are caused by disruptions in the normal development of the cerebral cortex. Advances in genetic tools have expanded our understanding of the genetics of these malformations over the past few years, with a number of new causative genes identified in patients with MCD. In addition, there has been a vast expansion in the phenotypic characterization of the known genes, with a wide range as well as severity of malformations being reported. There is increasing evidence of role of de novo mutations, including those occurring post fertilization, in MCD. These “somatic” mutations may not be detectable by traditional methods of genetic testing performed on blood DNA. Identification of the genetic etiology can help in guiding families in future pregnancies. Recent work has highlighted how elucidation of key molecular pathway can also allow for targeted therapeutic interventions.
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影响因子：
9.9
作者：
Granata, T;Farina, L;Battaglia, G
通讯作者：
Battaglia, G
影响因子：
--
作者：
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通讯作者：
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DOI：
10.1038/gim.2013.73
发表时间：
2013-07
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
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作者：
通讯作者：
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影响因子：
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作者：
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通讯作者：
Hofstra, RMW
DOI：
10.1093/brain/aws019
发表时间：
2012-05
期刊：
Brain : a journal of neurology
影响因子：
--
作者：
Barkovich AJ;Guerrini R;Kuzniecky RI;Jackson GD;Dobyns WB
通讯作者：
Dobyns WB