Diverse faces of GNAO1: mild forms in epilepsy and autism.

This letter to the editors discusses two cases of mild forms of GNAO1-related disorders (GNAO1-RD) in patients with epilepsy and autism. GNAO1-RD is typically characterized by moderate to severe symptoms such as epilepsy, movement disorders, developmental delay, and intellectual disability. However, these two cases highlight the importance of investigating mutations in the GNAO1 gene in patients with milder neurological phenotypes. The letter provides clinical and genetic information about the two patients and discusses the functional characterization of the GNAO1 variants. This study expands the known spectrum of GNAO1-RD and emphasizes the significance of studying GNAO1 gene variants, even in cases with mild neurological symptoms. [Extracted from the article]