Article
Clinical and Molecular Profiling in GNAO1 Permits Phenotype-Genotype Correlation.
Movement disorders : official journal of the Movement Disorder Society - 1 Sept 2024
Lasa-Aranzasti Amaia, Larasati Yonika A, da Silva Cardoso Juliana, Solis Gonzalo P, Koval Alexey, Cazurro-Gutiérrez Ana, Ortigoza-Escobar Juan Dario, Miranda Maria Concepción, De la Casa-Fages Beatriz, Moreno-Galdó Antonio, Tizzano Eduardo F, Gómez-Andrés David, Verdura Edgard, Katanaev Vladimir L, Pérez-Dueñas Belén
Abstract excerpt
BACKGROUND: Defects 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. OBJECTIVES: We aimed to analyze the clinical phenotype and the molecular characterization of GNAO1-related disorders. METHODS: Patients were...
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