Genetic research progress of syndromes with the comorbidity of epilepsy and autism / 国际儿科学杂志

ABSTRACT

No specific causative gene has been found for epilepsy or autism,while the co-occurrence rate of these two disorders is approximately 30％,suggesting potentially shared common mechanisms.A number of well-known genetic disorders share epilepsy and autism as prominent phenotypic features,including Rett syndrome,tuberous sclerosis,fragile X,and so on.A lot of gene mutations related with the development of nervous system,such as ARX,MECP2,usually associate with the prevalence of these syndromes.Gene mutations often disrupt synaptic plasticity,leading to protein adjusting spiral out of control,resulting in imbanlance of excitement and inhibition in brain,which develop a series of diseases.Mechanisms of early-life seizures and autism turn out to be in several levels,for gene mutations may lead to changes in both molecules and cells,resulting in intelligence and behavior abnormalities.Genetic research progress of syndromes with the comorbidity of epilepsy and autism are reviewed in this paper,in order to provide insight into their underlying pathophysiology and elucidate new therapeutic approaches of both conditions.