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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