Deciphering a mechanistic basis for the pathological effect of the GNAO1 E246K variant in neurodevelopmental disorder
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Pathogenic variants in the GNAO1 gene, which encodes for Gαo, a major neuronal G protein, are associated with neurodevelopmental disorders, epilepsy, and movement disorders. We identified and characterized in detail a de novo heterozygous GNAO1 E246K pathogen... ...
