KEGG   VARIANT: 2904v1
Entry
2904v1                      Variant                                
Name
GRIN2B mutation
Type
Loss of function
Gene
GRIN2B  glutamate ionotropic receptor NMDA type subunit 2B [KO:K05210]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138252
Network
nt06528  Calcium signaling
nt06544  Neuroactive ligand signaling
Disease
H00606  Early infantile epileptic encephalopathy
H00773  Autosomal dominant intellectual developmental disorder
Reference
  Authors
Lemke JR, Hendrickx R, Geider K, Laube B, Schwake M, Harvey RJ, James VM, Pepler A, Steiner I, Hortnagel K, Neidhardt J, Ruf S, Wolff M, Bartholdi D, Caraballo R, Platzer K, Suls A, De Jonghe P, Biskup S, Weckhuysen S
  Title
GRIN2B mutations in West syndrome and intellectual disability with focal epilepsy.
  Journal
Ann Neurol 75:147-54 (2014)
DOI:10.1002/ana.24073
Reference
  Authors
Platzer K, Yuan H, Schutz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Stromme P, Biskup S, Docker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Moller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR
  Title
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
  Journal
J Med Genet 54:460-470 (2017)
DOI:10.1136/jmedgenet-2016-104509
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