KEGG   VARIANT: 2903v1
Entry
2903v1                      Variant                                
Name
GRIN2A mutation
Type
Loss of function
Gene
GRIN2A  glutamate ionotropic receptor NMDA type subunit 2A [KO:K05209]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138253
Network
nt06528  Calcium signaling
nt06544  Neuroactive ligand signaling
Disease
H01514  Landau-Kleffner syndrome
Reference
  Authors
Lesca G, Rudolf G, Bruneau N, Lozovaya N, Labalme A, Boutry-Kryza N, Salmi M, Tsintsadze T, Addis L, Motte J, Wright S, Tsintsadze V, Michel A, Doummar D, Lascelles K, Strug L, Waters P, de Bellescize J, Vrielynck P, de Saint Martin A, Ville D, Ryvlin P, Arzimanoglou A, Hirsch E, Vincent A, Pal D, Burnashev N, Sanlaville D, Szepetowski P
  Title
GRIN2A mutations in acquired epileptic aphasia and related childhood focal epilepsies and encephalopathies with speech and language dysfunction.
  Journal
Nat Genet 45:1061-6 (2013)
DOI:10.1038/ng.2726
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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