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Paper Details

GRIN2D Recurrent De Novo Dominant Mutation Causes a Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers.
Am J Hum Genet
123
2016
Epileptic Encephalopathy, GRIN2D, GluN2D, N-methyl-D-aspartate, N-methyl-D-aspartate receptors, NMDA, NMDA Receptor, NMDAR, NMDAR gene, NMDAR subunits, NMDARs, Val667Ile, c, c.1999G, childhood epilepsy syndromes, children, cultured neurons, epilepsy, epileptic encephalopathy, extracellular, glutamate, glycine, human, human GRIN2D cDNA, ketamine, magnesium, memantine, mutant NMDARs, neuronal cell death, status epilepticus
Author NameAffiliation
Dong LiCenter for Applied Genomics, The Children's Hospital of Philadelphia
Rosetta M ChiavacciCenter for Applied Genomics, The Children's Hospital of Philadelphia
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia, USA University of Pennsylvania Perelman School of Medicine
Hakon HakonarsonCenter for Applied Genomics, The Children's Hospital of Philadelphia, USA University of Pennsylvania Perelman School of Medicine
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