KEGG   VARIANT: 2902v1
Entry
2902v1                      Variant                                
Name
GRIN1 mutation
Type
Loss of function
Gene
GRIN1  glutamate ionotropic receptor NMDA type subunit 1 [KO:K05208]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138249
Network
nt06528  Calcium signaling
nt06544  Neuroactive ligand signaling
Disease
H00606  Early infantile epileptic encephalopathy
H00773  Autosomal dominant intellectual developmental disorder
H02865  Neurodevelopmental disorder with or without hyperkinetic movements and seizures
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
Reference
  Authors
Lemke JR, Geider K, Helbig KL, Heyne HO, Schutz H, Hentschel J, Courage C, Depienne C, Nava C, Heron D, Moller RS, Hjalgrim H, Lal D, Neubauer BA, Nurnberg P, Thiele H, Kurlemann G, Arnold GL, Bhambhani V, Bartholdi D, Pedurupillay CR, Misceo D, Frengen E, Stromme P, Dlugos DJ, Doherty ES, Bijlsma EK, Ruivenkamp CA, Hoffer MJ, Goldstein A, Rajan DS, Narayanan V, Ramsey K, Belnap N, Schrauwen I, Richholt R, Koeleman BP, Sa J, Mendonca C, de Kovel CG, Weckhuysen S, Hardies K, De Jonghe P, De Meirleir L, Milh M, Badens C, Lebrun M, Busa T, Francannet C, Piton A, Riesch E, Biskup S, Vogt H, Dorn T, Helbig I, Michaud JL, Laube B, Syrbe S
  Title
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy.
  Journal
Neurology 86:2171-8 (2016)
DOI:10.1212/WNL.0000000000002740
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