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Objective
To screen a library of potential therapeutic compounds for a woman with Lennox‐Gastaut syndrome due to a Y302C GABRB3 (c.905A>G) mutation.
Methods
We compared the electrophysiological properties of cells with wild‐type or the pathogenic GABRB3 mutation.
Results
Among 1320 compounds, multiple candidates enhanced GABRB3 channel conductance in cell models. Vinpocetine, an alkaloid derived...
Objective
Many previous studies of drug repurposing have relied on literature review followed by evaluation of a limited number of candidate compounds. Here, we demonstrate the feasibility of a more comprehensive approach using high‐throughput screening to identify inhibitors of a gain‐of‐function mutation in the SCN8A gene associated with severe pediatric epilepsy.
Methods
We developed cellular...
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