KEGG   VARIANT: 2898v2
Entry
2898v2                      Variant                                
Name
GRIK2 gain-of-function mutation
Type
Gain of function
Gene
GRIK2  glutamate ionotropic receptor kainate type subunit 2 [KO:K05202]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 138244
Network
nt06544  Neuroactive ligand signaling
Disease
H02894  Neurodevelopmental disorder with impaired language and ataxia and with or without seizures
Reference
PMID:28180184
  Authors
Guzman YF, Ramsey K, Stolz JR, Craig DW, Huentelman MJ, Narayanan V, Swanson GT
  Title
A gain-of-function mutation in the GRIK2 gene causes neurodevelopmental deficits.
  Journal
Neurol Genet 3:e129 (2017)
DOI:10.1212/NXG.0000000000000129
Reference
PMID:34375587
  Authors
Stolz JR, Foote KM, Veenstra-Knol HE, Pfundt R, Ten Broeke SW, de Leeuw N, Roht L, Pajusalu S, Part R, Rebane I, Ounap K, Stark Z, Kirk EP, Lawson JA, Lunke S, Christodoulou J, Louie RJ, Rogers RC, Davis JM, Innes AM, Wei XC, Keren B, Mignot C, Lebel RR, Sperber SM, Sakonju A, Dosa N, Barge-Schaapveld DQCM, Peeters-Scholte CMPCD, Ruivenkamp CAL, van Bon BW, Kennedy J, Low KJ, Ellard S, Pang L, Junewick JJ, Mark PR, Carvill GL, Swanson GT
  Title
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders.
  Journal
Am J Hum Genet 108:1692-1709 (2021)
DOI:10.1016/j.ajhg.2021.07.007
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