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

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 h...

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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10605901/
https://www.ncbi.nlm.nih.gov/pubmed/37887313
http://dx.doi.org/10.3390/cells12202469

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