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Deciphering the mechanistic basis for the pathological effect of the Gα o E246K mutation in neurodevelopmental disorder

2025-09-07

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Mutations in the GNAO1 gene, which encodes for Gα o , a major neuronal G protein, are associated with neurodevelopmental disorders, epilepsy, and movement disorders. We identified and characterized a spontaneous heterozygous GNAO1 E246K mutation in an Israeli female infant with complex developmental delays and substantial motor difficulties. This mutation has been reported in other cases as a prevalent pathogenic...

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Literature Corpus work: 607d685d-aff6-597e-9632-cfed6204a7a5
DOI: 10.1101/2025.09.03.673757

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Deciphering the mechanistic basis for the pathological effect of the Gα <sub>o</sub> E246K mutation in neurodevelopmental disorder

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