Department of Pediatrics, University of Colorado Denver School of Medicine, Aurora, USA.
Epilepsia. 2011 Jan;52 Suppl 1(Suppl 1):13-20. doi: 10.1111/j.1528-1167.2010.02906.x.
Intellectual and developmental disabilities (IDDs) such as autistic spectrum disorders (ASDs) and epilepsies are heterogeneous disorders that have diverse etiologies and pathophysiologies. The high rate of co-occurrence of these disorders, however, suggests potentially shared underlying mechanisms. A number of well-known genetic disorders share epilepsy, intellectual disability, and autism as prominent phenotypic features, including tuberous sclerosis complex, Rett syndrome, and fragile X syndrome. In addition, mutations of several genes involved in neurodevelopment, including ARX, DCX, neuroligins, and neuropilin 2 have been identified in children with epilepsy, IDDs, ASDs, or a combination of thereof. Finally, in animal models, early life seizures can result in cellular and molecular changes that could contribute to learning and behavioral disabilities. Increased understanding of the common genetic, molecular, and cellular mechanisms of IDDs, ASDs, and epilepsy may provide insight into their underlying pathophysiology and elucidate new therapeutic approaches for these conditions.
智力和发育障碍（IDDs），如自闭症谱系障碍（ASD）和癫痫，是具有不同病因和病理生理学的异质性疾病。然而，这些疾病的高共病率表明可能存在潜在的共同潜在机制。许多众所周知的遗传疾病都具有癫痫、智力障碍和自闭症等突出的表型特征，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、智力障碍、自闭症或这些疾病组合的儿童中，已发现涉及神经发育的几个基因的突变，包括 ARX、DCX、神经黏附素和神经纤毛蛋白 2。最后，在动物模型中，早期生命中的癫痫发作会导致细胞和分子变化，这些变化可能导致学习和行为障碍。对 IDDs、ASD 和癫痫的共同遗传、分子和细胞机制的深入了解，可能有助于深入了解其潜在病理生理学，并为这些疾病阐明新的治疗方法。
