Functional analysis of epilepsy-associated variants in STXBP1/Munc18-1 using humanized Caenorhabditis elegans.

Bangfu ZhuJennifer C H MakAndrew P MorrisAnthony G MarsonJeff W BarclayGraeme J SillsAlan Morgan

Published in: Epilepsia (2020)

The approach described here is a cost-effective in vivo method for establishing the pathogenicity of genetic variants in STXBP1 and potentially other conserved neuronal proteins. Furthermore, the humanized strains we created could potentially be used in the future for high-throughput drug screens to identify novel therapeutics.

Keyphrases

high throughput
monoclonal antibody
escherichia coli
single cell
small molecule
copy number
current status
transcription factor
genome wide
biofilm formation
gene expression
adverse drug
emergency department
pseudomonas aeruginosa
blood brain barrier
drug induced
electronic health record