Hughes, James

Knockout of the epilepsy gene Depdc5 in mice causes severe embryonic dysmorphology with hyperactivity of mTORC1 signalling. [electronic resource] - Scientific reports 10 2017 - 12618 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

2045-2322

10.1038/s41598-017-12574-2 doi


Animals
Brain--physiopathology
CRISPR-Cas Systems--genetics
Disease Models, Animal
Epilepsy--genetics
Fibroblasts--pathology
GTPase-Activating Proteins--genetics
Gene Expression Regulation
Heterozygote
Humans
Mechanistic Target of Rapamycin Complex 1--genetics
Mice
Mice, Knockout
Multiprotein Complexes--chemistry
Mutation
Seizures--genetics
Signal Transduction--genetics