Personalized medicine: Vinpocetine to reverse effects of GABRB3 mutation.

ABSTRACT:

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 periwinkle plant with anti-inflammatory properties and the ability to modulate sodium and channel channels, was the lead candidate based on efficacy and safety profile. Vinpocetine was administered as a dietary supplement over 6 months, reaching a dosage of 20 mg three times per day, and resulted in a sustained, dose-dependent reduction in spike-wave discharge frequen

SUBMITTER: Billakota S 

PROVIDER: S-EPMC7004153 | biostudies-literature | 2019 Dec

REPOSITORIES: biostudies-literature