Second-hit DEPDC5 mutation is limited to dysmorphic neurons in cortical dysplasia type IIA. [electronic resource]
- Annals of clinical and translational neurology 07 2019
- 1338-1344 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
2328-9503
10.1002/acn3.50815 doi
Brain--diagnostic imaging Cerebral Cortex--diagnostic imaging Child Drug Resistant Epilepsy--genetics GTPase-Activating Proteins--genetics Humans Male Malformations of Cortical Development--diagnostic imaging Mutation Neurons--pathology TOR Serine-Threonine Kinases--genetics