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学习障碍和癫痫的病因:综述。

Causes of learning disability and epilepsy: a review.

机构信息

Cambridge Intellectual and Developmental Disabilities Research Group, University of Cambridge, Cambridge, UK.

出版信息

Curr Opin Neurol. 2011 Apr;24(2):154-8. doi: 10.1097/WCO.0b013e3283444c70.

DOI:10.1097/WCO.0b013e3283444c70
PMID:21293271
Abstract

PURPOSE OF REVIEW

Although the association between learning disability and epilepsy is well known, until relatively recently specific processes underlying this association were relatively poorly understood. However, scientific advances in molecular biology are starting to guide researchers towards descriptions of genetic and pathophysiological processes that may explain why syndromes of epilepsy and learning disability often co-exist.

RECENT FINDINGS

This article will focus largely on three areas of advancing knowledge: insights gained from wider use of genome-wide array comparative genomic hybridization (aCGH), specific insights gained from detailed study of Rett syndrome and the role of abnormalities of astrocytic function in predisposing to both epilepsy and learning disability.

SUMMARY

The enormous complexity of the biological underpinnings of the co-occurrence of epilepsy and learning disability are becoming apparent. In the future it is likely that research into therapeutic approaches will include, amongst other approaches, investigations of gene structure and expression, the role of astrocytes and the stability of dendritic spines.

摘要

目的综述

尽管学习障碍与癫痫之间的关联早已为人所知,但直到最近,其背后的具体过程仍知之甚少。然而,分子生物学领域的科学进步开始为研究人员提供线索,帮助他们描述可能解释为何癫痫和学习障碍综合征经常共存的遗传和病理生理过程。

最新发现

本文将主要关注三个知识领域的进展:更广泛使用全基因组芯片比较基因组杂交(aCGH)所获得的见解、详细研究雷特综合征所获得的具体见解,以及星形胶质细胞功能异常在导致癫痫和学习障碍中的作用。

总结

癫痫和学习障碍同时发生的生物学基础的巨大复杂性变得越来越明显。未来,针对治疗方法的研究很可能包括对基因结构和表达、星形胶质细胞的作用以及树突棘稳定性的研究等方法。

相似文献

1
Causes of learning disability and epilepsy: a review.学习障碍和癫痫的病因:综述。
Curr Opin Neurol. 2011 Apr;24(2):154-8. doi: 10.1097/WCO.0b013e3283444c70.
2
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Exome sequencing of Pakistani consanguineous families identifies 30 novel candidate genes for recessive intellectual disability.对巴基斯坦近亲家庭进行外显子组测序,鉴定出30个导致隐性智力残疾的新候选基因。
Mol Psychiatry. 2017 Nov;22(11):1604-1614. doi: 10.1038/mp.2016.109. Epub 2016 Jul 26.
3
Quantification of functional abilities in Rett syndrome: a comparison between stages III and IV.
雷特综合征功能能力的量化:III 期和 IV 期的比较。
Neuropsychiatr Dis Treat. 2014 Jul 3;10:1213-22. doi: 10.2147/NDT.S57333. eCollection 2014.
4
Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis.伴有致病性拷贝数变异的智力障碍儿童临床特征的预测诊断价值:多变量分析。
Ital J Pediatr. 2014 Apr 28;40:39. doi: 10.1186/1824-7288-40-39.
5
From genetics to genomics of epilepsy.从癫痫的遗传学到基因组学。
Neurol Res Int. 2012;2012:876234. doi: 10.1155/2012/876234. Epub 2012 May 8.
6
Astrocytes and disease: a neurodevelopmental perspective.星形胶质细胞与疾病:神经发育观点
Genes Dev. 2012 May 1;26(9):891-907. doi: 10.1101/gad.188326.112.