KEGG   VARIANT: 2566v1
Entry
2566v1                      Variant                                
Name
GABRG2 mutation
Type
Loss of function
Gene
GABRG2  gamma-aminobutyric acid receptor subunit gamma-2 isoform 1 precursor [KO:K05186]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 137164
Network
nt06544  Neuroactive ligand signaling
Disease
H00606  Early infantile epileptic encephalopathy
H00783  Febrile seizures
Reference
PMID:27864268
  Authors
Shen D, Hernandez CC, Shen W, Hu N, Poduri A, Shiedley B, Rotenberg A, Datta AN, Leiz S, Patzer S, Boor R, Ramsey K, Goldberg E, Helbig I, Ortiz-Gonzalez XR, Lemke JR, Marsh ED, Macdonald RL
  Title
De novo GABRG2 mutations associated with epileptic encephalopathies.
  Journal
Brain 140:49-67 (2017)
DOI:10.1093/brain/aww272
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