A rare intellectual disability and epilepsy syndrome characterised by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalised seizures with variable abnormal EEG findings, a
vroeg optredende epileptische encefalopathie en verstandelijke beperking door mutatie van 'glutamate receptor, ionotropic, N-methyl-D-aspartate, subunit 2A'
