Epilepsy and autism spectrum disorders: Are there common developmental mechanisms?
Epilepsy and autism spectrum disorders: Are there common developmental mechanisms?
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DOI：
10.1016/j.braindev.2010.04.010
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发表时间：
2010-10-01
影响因子：
1.7
通讯作者：
Brooks-Kayal, Amy
中科院分区：
文献类型：
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作者：
Brooks-Kayal, Amy
自闭症谱系障碍（ASD）和癫痫是具有不同病因和病理生理学的异质性障碍。这些疾病的高并发率表明潜在的共同的潜在机制。许多众所周知的遗传性疾病都以癫痫和自闭症为突出的表型特征，包括结节性硬化症、雷特综合征和脆性X染色体。此外，参与神经发育的几个基因的突变，包括ARX，DCX，neuroligins和neuropilin2已经在癫痫，ASD或两者兼而有之的儿童中被发现。最后，在动物模型中，早期癫痫发作可能导致细胞和分子变化，这可能导致学习和行为障碍，如ASD中所见。对ASD和癫痫的共同遗传、分子和细胞机制的了解的增加可以提供对其潜在病理生理学的深入了解，并阐明这两种情况的新治疗方法。(C)2010 Elsevier B.V.保留所有权利。
Autistic spectrum disorders (ASD) and epilepsies are heterogeneous disorders that have diverse etiologies and pathophysiologies. The high rate of co-occurrence of these disorders suggest potentially shared underlying mechanisms. A number of well-known genetic disorders share epilepsy and autism as prominent phenotypic features, including tuberous sclerosis, Rett syndrome, and fragile X. In addition, mutations of several genes involved in neurodevelopment, including ARX, DCX, neuroligins and neuropilin2 have been identified in children with epilepsy, ASD or often both. Finally, in animal models, early-life seizures can result in cellular and molecular changes that could contribute to learning and behavioral disabilities as seen in ASD. Increased understanding of the common genetic, molecular and cellular mechanisms of ASD and epilepsy may provide insight into their underlying pathophysiology and elucidate new therapeutic approaches of both conditions. (C) 2010 Elsevier B.V. All rights reserved.