Dopamine DRD4 gene polymorphism as a risk factor for epilepsy in autism spectrum disorder

Background: Epilepsy can co-occur in Autism Spectrum Disorder (ASD) patients and impact the individual’s behavior, socialization, and language development. Polymorphisms in the dopamine D4 receptor gene - DRD4 - have been studied as a potential biomarker for co-occurrence and severity of these disorders. In this study, we evaluated the prevalence of the polymorphisms of the DRD4 gene, its effects on clinical characteristics of ASD, and its association with epilepsy in ASD patients. Clinical investigations of 53 ASD patients aged between 2 and 16 years old were conducted to assess their health history and comorbidities. Genotyping of these patients was performed through the molecular analysis of the DRD4 gene polymorphisms.