epilepsy with neurodevelopmental defects

epilepsy with neurodevelopmental defects

A neurodevelopmental disorder (OMIM:613971) characterised by mental retardation, behavioural problems, epilepsy, learning difficuties and variable cognitive impairment.

Molecular pathology
Defects in GRIN2A, which encodes a ligand-gated ion channel that plays a key role in plasticity of synapses, cause epilepsy with neurodevelopmental defects.
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