2024
DOI: 10.1002/mds.29881
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Clinical and Molecular Profiling in GNAO1 Permits Phenotype–Genotype Correlation

Amaia Lasa‐Aranzasti,
Yonika A. Larasati,
Juliana da Silva Cardoso
et al.

Abstract: BackgroundDefects in GNAO1, the gene encoding the major neuronal G‐protein Gαo, are related to neurodevelopmental disorders, epilepsy, and movement disorders. Nevertheless, there is a poor understanding of how molecular mechanisms explain the different phenotypes.ObjectivesWe aimed to analyze the clinical phenotype and the molecular characterization of GNAO1‐related disorders.MethodsPatients were recruited in collaboration with the Spanish GNAO1 Association. For patient phenotyping, direct clinical evaluation,… Show more

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