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Personalized medicine: Vinpocetine to reverse effects of GABRB3 mutation

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,...

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Detalles Bibliográficos
Autores principales:	Billakota, Santoshi, Andresen, J. Michael, Gay, Bryant C., Stewart, Gregory R., Fedorov, Nikolai B., Gerlach, Aaron C., Devinsky, Orrin
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2019
Materias:	Full‐length Original Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7004153/ https://www.ncbi.nlm.nih.gov/pubmed/31755996 http://dx.doi.org/10.1111/epi.16394

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