KEGG   VARIANT: 2906v1
Entry
2906v1                      Variant                                
Name
GRIN2D mutation
Type
Gain of function
Gene
GRIN2D  glutamate ionotropic receptor NMDA type subunit 2D [KO:K05212]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 602717
Network
nt06528  Calcium signaling
nt06544  Neuroactive ligand signaling
Disease
H00606  Early infantile epileptic encephalopathy
Reference
  Authors
Xu XX, Luo JH
  Title
Mutations of N-Methyl-D-Aspartate Receptor Subunits in Epilepsy.
  Journal
Neurosci Bull 34:549-565 (2018)
DOI:10.1007/s12264-017-0191-5
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