Blar i Bergen Open Research Archive på forfatter "Chatron, Nicolas"

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

      Larasati, Yonika A.; Solis, Gonzalo P.; Koval, Alexey; Griffiths, Silja Torvik; Berentsen, Ragnhild Drage; Aukrust, Ingvild; Lesca, Gaetan; Chatron, Nicolas; Ville, Dorothée; Korff, Christian M.; Katanaev, Vladimir L. (Journal article; Peer reviewed, 2023)
      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 ...