Pharmacological Correction of Aberrant DSCAML1 Localization by 4-Phenylbutyrate Ameliorates Epileptic Phenotypes in a Mouse Model Harboring the Patient-Specific A2105T Mutation
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DSCAML1 variants are associated with neurodevelopmental disorders and epilepsy. The pathogenic A2105T missense mutation leads to intracellular accumulation of the DSCAML1 protein, preventing its proper localization to the cell surface. Here, we investigated th... ...
