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Up to: Childhood-onset epilepsy syndrome · GRIN2A-related complex neurodevelopmental disorder
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
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.
This condition has no sub-types.