Stafstrom Carl E, Benke Tim A
Division of Pediatric Neurology, Johns Hopkins University School of Medicine, Baltimore, MD.
Division of Pediatric Neurology, University of Colorado, School of Medicine, Children's Hospital Colorado, Aurora, CO.
Epilepsy Curr. 2015 Jul-Aug;15(4):206-10. doi: 10.5698/1535-7511-15.4.206.
The common co-occurrence of autism and epilepsy suggests that certain neurobiological mechanisms are shared between these disorders. In particular, the profusion of novel genetic mutations being discovered in autism and epilepsy points to abnormalities in synapse formation and function that alter the balance between neuronal excitation and inhibition. Animal models can be informative in sorting out the medical and behavioral complexities in autism and epilepsy and the relationship between them. As mechanistic information accrues, it is anticipated that mutation- and pathway-specific targeted treatments can be developed.
自闭症和癫痫的共同出现表明，这些疾病之间存在某些共同的神经生物学机制。特别是，在自闭症和癫痫中发现的大量新基因突变表明，突触形成和功能异常会改变神经元兴奋与抑制之间的平衡。动物模型有助于梳理出自闭症和癫痫的医学及行为复杂性以及它们之间的关系。随着机制信息的积累，预计可以开发出针对特定突变和途径的靶向治疗方法。
