Phenotypic Diversity in GNAO1 Patients: A Comprehensive Overview of Variants and Phenotypes.

ABSTRACT: GNAO1 disorder is a rare autosomal dominant neurodevelopmental syndrome that is clinically manifested by developmental delay, (early onset) epilepsy, and movement disorders. Clinical symptoms appear very heterogeneous in nature and severity, as well as the response of GNAO1 patients to available medication varies. Pathogenic GNAO1 variants have been found mainly scattered throughout the gene although certain mutation hotspots affecting the function of the encoded Gαo proteins exist. GNAO1 variants only partially explain the diverse phenotypic spectrum observed but full stratification has been hampered by the limited number of patients. The aim of this review was to generate a comprehensive overview of the germline variants in GNAO1 and provide insight into the p

SUBMITTER: Saez Gonzalez M 

PROVIDER: S-EPMC11919132 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature