label: early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
label_lc: early-onset epileptic encephalopathy and intellectual disability due to grin2a mutation
description: A rare intellectual disability and epilepsy syndrome due to mutation in GRIN2A gene. It is characterized by global developmental delay and mild to profound intellectual disability, multiple types of usually intractable focal and generalized seizures with variable abnormal EEG findings, and bilateral progressive parenchymal volume loss and thin corpus callosum on brain MRI.