KEGG   VARIANT: 2893v1
Entry
2893v1                      Variant                                
Name
GRIA4 mutation
Type
Loss of function
Gene
GRIA4  glutamate ionotropic receptor AMPA type subunit 4 [KO:K05200]
Organism
hsa_var Human gene variants (Homo sapiens)
Network
nt06544  Neuroactive ligand signaling
Disease
H02888  Neurodevelopmental disorder with or without seizures and gait abnormalities
Reference
PMID:29220673
  Authors
Martin S, Chamberlin A, Shinde DN, Hempel M, Strom TM, Schreiber A, Johannsen J, Ousager LB, Larsen MJ, Hansen LK, Fatemi A, Cohen JS, Lemke J, Sorensen KP, Helbig KL, Lessel D, Abou Jamra R
  Title
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities.
  Journal
Am J Hum Genet 101:1013-1020 (2017)
DOI:10.1016/j.ajhg.2017.11.004
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