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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

31 clinical trials for this condition and its sub-types.

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Broader categories

Disease (618) Epilepsy (398) Nervous system disorder (217) Hereditary disease (172) Neurodevelopmental disorder (125) Brain disorder (110) Central nervous system disorder (97) Childhood-onset epilepsy syndrome (16) Human disease (14) Hereditary neurological disease (5)
Trials to join now! 16 Not yet recruiting 5 Not yet finished but already full! 5 Completed 5
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