Article
CRISPR/Cas9 facilitates investigation of neural circuit disease using human iPSCs: mechanism of epilepsy caused by an SCN1A loss-of-function mutation.
Translational psychiatry - 5 Jan 2016
Liu J, Gao C, Chen W, Ma W, Li X, Shi Y, Zhang H, Zhang L, Long Y, Xu H, Guo X, Deng S, Yan X, Yu D, Pan G, Chen Y, Lai L, Liao W, Li Z
Abstract excerpt
Mutations in SCN1A, the gene encoding the α subunit of Nav1.1 channel, can cause epilepsies with wide ranges of clinical phenotypes, which are associated with the contrasting effects of channel loss-of-function or gain-of-function. In this project, CRISPR/Cas9- and TALEN-mediated genome-editing techniques were applied to induced pluripotent stem cell (iPSC)-based-disease model to explore the mechanism of epilepsy...
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