KEGG   VARIANT: 2558v1
Entry
2558v1                      Variant                                
Name
GABRA5 mutation
Type
Loss of function
Gene
GABRA5  gamma-aminobutyric acid type A receptor subunit alpha5 [KO:K05175]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 137142
Network
nt06544  Neuroactive ligand signaling
Disease
H00606  Early infantile epileptic encephalopathy
Reference
PMID:29961870
  Authors
Butler KM, Moody OA, Schuler E, Coryell J, Alexander JJ, Jenkins A, Escayg A
  Title
De novo variants in GABRA2 and GABRA5 alter receptor function and contribute to early-onset epilepsy.
  Journal
Brain 141:2392-2405 (2018)
DOI:10.1093/brain/awy171
Reference
PMID:31056671
  Authors
Hernandez CC, XiangWei W, Hu N, Shen D, Shen W, Lagrange AH, Zhang Y, Dai L, Ding C, Sun Z, Hu J, Zhu H, Jiang Y, Macdonald RL
  Title
Altered inhibitory synapses in de novo GABRA5 and GABRA1 mutations associated with early onset epileptic encephalopathies.
  Journal
Brain 142:1938-1954 (2019)
DOI:10.1093/brain/awz123
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