Article

Mouse Models Characterize GNAO1 Encephalopathy as a Neurodevelopmental Disorder Leading to Motor Anomalies: from a Severe G203R to a Milder C215Y Mutation

2021-11-29

Abstract excerpt

<title>Abstract</title> <italic>GNAO1</italic> encephalopathy characterized by a wide spectrum of neurological deficiencies in pediatric patients originates from <italic>de novo</italic> heterozygous mutations in the gene encoding Gαo, the major neuronal G protein. Efficient treatments and even the proper understanding of the underlying etiology are currently lacking for this dominant disease. Adequate animal...

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Literature Corpus work: 58cc80df-94da-5ac7-a4b0-0170f892eaf5
DOI: 10.21203/rs.3.rs-1089935/v1

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