Article
CRISPRa-Mediated Upregulation of scn1laa During Early Development Causes Epileptiform Activity and dCas9-Associated Toxicity.
The CRISPR journal - 1 Aug 2021
Weuring Wout J, Dilevska Ivana, Hoekman Jos, van de Vondervoort Joep, Koetsier Martijn, van 't Slot Ruben H, Braun Kees P J, Koeleman Bobby P C
Abstract excerpt
Dravet syndrome (DS) is a monogenic epileptic encephalopathy caused by loss-of-function mutations in the voltage-gated sodium channel (VGSC) gene SCN1A. DS has an age of onset within the first year of life and severe disease prognosis. In the past years, it has been shown that upregulation of endogenous SCN1A can be beneficial in animal models for DS, but a complete rescue was not observed. We hypothesized that...
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