CHD2 mutations: Only epilepsy? Description of cognitive and behavioral profile in a case with a new mutation
The chromodomain helicase DNA binding domain 2 (CHD2) gene (OMIM: 602119) was originally characterized by Woodage et al. [1] and has been repeatedly reported to play a pivotal role in cerebrocortical development. CHD2 gene mutations was recently described in patients with photosensitive epilepsies [2], with myoclonic-atonic epilepsy (MAE), Lennox–Gastaut syndrome (LGS), Dravet syndrome (DS) and other forms of epileptic encephalopathies featuring generalized epilepsy with intellectual disability (ID) [3,4].
5 Sep 2017 ... Introduction. The chromodomain helicase DNA binding domain 2 (CHD2) gene ( OMIM: 602119) was originally characterized by Woodage et al. [.