Condition: EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
rs886040861
in
GRIN2D
gene and
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 46
PMID 27616483
2016 GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.