/early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation

Rare Disease

MONDO:0017325

Also Known As

early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutationepilepsy, focal, with speech disorder and with or without impaired intellectual development

Definition

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.