De novo pathogenic variants in neuronal differentiation factor 2 (NEUROD2) cause a form of early infantile epileptic encephalopathy.

Annalisa G SegaEmily K MisKristin LindstromSaadet Mercimek-AndrewsWeizhen JiMegan T ChoJane JuusolaMonica KonstantinoLauren JeffriesMustafa K KhokhaSaquib Ali Lakhani

Published in: Journal of medical genetics (2018)

This study provides clinical and functional support for NEUROD2 variants as a cause of early infantile epileptic encephalopathy, the first evidence of human disease caused by NEUROD2 variants.

Keyphrases

copy number
early onset
endothelial cells
gene expression
genome wide
pluripotent stem cells
cerebral ischemia
subarachnoid hemorrhage