- Volume - Number
- Published: January 12, 2026
A severe case of GNAO1-related disorder
Kaylene Freitas 1, Fiona Caldeira 1, Andreia Forno 1, Paulo Sousa 2
1 Pediatrics Department, Hospital Central do Funchal, Madeira, Portugal; 2 Pediatric Neurology Unit, Pediatrics Department, Hospital Central do Funchal, Madeira, Portugal
Kaylene Freitas, Fiona Caldeira, Andreia Forno, Paulo Sousa
La información completa de afiliaciones y autor de correspondencia está disponible en la versión original en PDF.
*Correspondence: Andreia Forno, Email not available
Abstract
Introduction: GNAO1-related disorder or GNAO1-associated epileptic encephalopathy and movement disorder, is a rare neurodevelopmental group of disorders that manifests at a pediatric age with seizures, movement disorder and development delay. Case report: We report the case of a previously healthy female infant who initiated seizures at two months of age. Developmental delay and movement disorders gradually emerged at five months of age. An epilepsy WES-based NGS panel revealed a heterozygous pathogenic variant (c.607G>A p.(Gly203Arg)) in the GNAO1 gene. At the age of three, the patient suffers daily seizures, has dyskinesia, global hypotonia, poor interaction and does not communicate verbally. Discussion: GNAO1-related disorder should be considered in patients with global developmental delay, hypotonia, epilepsy and/or movement disorder. Despite there being few reported long-term outcomes, this variant appears to be severe and has a poor prognosis. Early recognition is important for adequate multidisciplinary and family management.
