Human induced pluripotent stem cell-derived cortical neurons from monozygotic twins with the Gα o1 K278del mutation reveal disease mechanisms relevant to GNAO1-related encephalopathy

Aggregator

05 Nov 2026 0 comments

OBJECTIVE: Rare de novo variants in GNAO1 cause a severe neurodevelopmental disorder characterized by a heterogenous display of early onset epilepsy, movement abnormalities, and global developmental delay. More than 100 pathogenic variants in GNAO1 have been identified and categorized into four groups according to their protein features. Most pathogenic variants affect both GNAO1 isoforms, whereas approximately 20% of patients have a GNAO1A-specific variant. Response to therapy is notoriously...