Clinical Cases and the Molecular Profiling of a Novel Childhood Encephalopathy-Causing <i>GNAO1</i> Mutation P170R

De novo mutations in <i>GNAO1</i>, 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 nucleoti...

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Váldodahkkit:	Yonika A. Larasati, Gonzalo P. Solis, Alexey Koval, Silja T. Griffiths, Ragnhild Berentsen, Ingvild Aukrust, Gaetan Lesca, Nicolas Chatron, Dorothée Ville, Christian M. Korff, Vladimir L. Katanaev
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	MDPI AG 2023-10-01
Ráidu:	Cells
Fáttát:	pediatric encephalopathy <i>GNAO1</i> G proteins Gαo dominant mutation case report
Liŋkkat:	https://www.mdpi.com/2073-4409/12/20/2469
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