Article
Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing GNAO1 Mutation P170R.
Cells - 17 Oct 2023
Larasati Yonika A, Solis Gonzalo P, Koval Alexey, Griffiths Silja T, Berentsen Ragnhild, Aukrust Ingvild, Lesca Gaetan, Chatron Nicolas, Ville Dorothée, Korff Christian M, Katanaev Vladimir L
Abstract excerpt
De novo mutations in GNAO1, the gene encoding the major neuronal G protein Gαo, cause a spectrum of pediatric encephalopathies with seizures, motor dysfunction, and developmental delay. Of the >80 distinct missense pathogenic variants, many appear to uniformly destabilize the guanine nucleotide handling of the mutant protein, speeding up GTP uptake and deactivating GTP hydrolysis. Zinc supplementation emerges as...
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