Restoration of the GTPase activity and cellular interactions of Gαo mutants by Zn2+ in GNAO1 encephalopathy models
Sign Up to like & getrecommendations! Published in 2022 at "Science Advances"
DOI: 10.1126/sciadv.abn9350
Abstract: De novo point mutations in GNAO1, gene encoding the major neuronal G protein Gαo, have recently emerged in patients with pediatric encephalopathy having motor, developmental, and epileptic dysfunctions. Half of clinical cases affect codons Gly203,… read more here.
Keywords: gnao1 encephalopathy; activity cellular; cellular interactions; gtpase activity ... See more keywords
Spectrum of movement disorders in GNAO1 encephalopathy: in-depth phenotyping and case-by-case analysis
Sign Up to like & getrecommendations! Published in 2020 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-020-01594-3
Abstract: Background GNAO1 encephalopathy is a rare neurodevelopmental disorder characterized by distinct movement presentations and early onset epileptic encephalopathy. Here, we report the in-depth phenotyping of genetically confirmed patients with GNAO1 encephalopathy, focusing on movement presentations.… read more here.
Keywords: movement; gnao1 encephalopathy; case; spectrum movement ... See more keywords