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 LakhaniPublished 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.