A mechanistic classification of GNAO1 mutations links Gβ γ sequestration to hyperkinetic disease and treatment response
Go is the most prevalent G protein subunit in the brain and is critical for signal transduction through G protein-coupled receptors. Mutations in the gene encoding Go (GNAO1) cause a rare neurodevelopmental disorder with involuntary movements (NEDIM) and, in some patients, developmental and epileptic encephalopathy (DEE). Here, we integrate human genetic analysis with cellular assays to define…
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