Article
Personalized medicine: Vinpocetine to reverse effects of GABRB3 mutation.
Epilepsia - 1 Dec 2019
Billakota Santoshi, Andresen J Michael, Gay Bryant C, Stewart Gregory R, Fedorov Nikolai B, Gerlach Aaron C, Devinsky Orrin
Abstract excerpt
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 from the...
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