Recurrent seizure‐related GRIN1 variant: Molecular mechanism and targeted therapy
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DOI: 10.1002/acn3.51406
Abstract: Genetic variants in the GRIN genes that encode N‐methyl‐D‐aspartate receptor (NMDAR) subunits have been identified in various neurodevelopmental disorders, including epilepsy. We identified a GRIN1 variant from an individual with early‐onset epileptic encephalopathy, evaluated functional… read more here.
Keywords: related grin1; recurrent seizure; variant molecular; seizure related ... See more keywords