Brooks-Kayal Amy
Department of Pediatrics, University of Colorado Denver School of Medicine, The Children's Hospital Denver, 13123 E 16th Avenue, B155, Aurora, CO 80045, United States.
Brain Dev. 2010 Oct;32(9):731-8. doi: 10.1016/j.braindev.2010.04.010. Epub 2010 May 31.
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.
自闭症谱系障碍(ASD)和癫痫是具有多种病因和病理生理学的异质性疾病。这些疾病的高共现率表明可能存在潜在的共同潜在机制。一些著名的遗传性疾病将癫痫和自闭症作为突出的表型特征,包括结节性硬化症、雷特综合征和脆性X综合征。此外,在患有癫痫、ASD或通常两者皆有的儿童中,已发现了一些参与神经发育的基因发生突变,包括ARX、DCX、神经连接蛋白和神经纤毛蛋白2。最后,在动物模型中,早期癫痫发作可导致细胞和分子变化,这可能导致如ASD中所见的学习和行为障碍。对ASD和癫痫的共同遗传、分子和细胞机制的进一步了解可能有助于深入了解其潜在的病理生理学,并阐明这两种疾病的新治疗方法。