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

MONDO:0017325

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.

Also known as: early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation, epilepsy, focal, with speech disorder and with or without impaired intellectual development

9 clinical trials for this condition and its sub-types, 0 tagged with Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation itself.

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↑ Childhood-onset epilepsy syndrome (106) ↑ GRIN2A-related complex neurodevelopmental disorder (0)
Including sub-types (9) Tagged with Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation (0)
Trials to join now! 5 Not yet finished but already full! 2 Completed 2
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