KEGG   VARIANT: 2554v1
Entry
2554v1                      Variant                                
Name
GABRA1 mutation
Type
Loss of function
Gene
GABRA1  gamma-aminobutyric acid receptor subunit alpha-1 precursor [KO:K05175]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 137160
Network
nt06544  Neuroactive ligand signaling
nt06549  Cadherin signaling
Disease
H00606  Early infantile epileptic encephalopathy
H00808  Idiopathic generalized epilepsies
H02215  Childhood absence epilepsy
H02217  Juvenile myoclonic epilepsy
Reference
  Authors
Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA
  Title
Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy.
  Journal
Nat Genet 31:184-9 (2002)
DOI:10.1038/ng885
Reference
  Authors
Steudle F, Rehman S, Bampali K, Simeone X, Rona Z, Hauser E, Schmidt WM, Scholze P, Ernst M
  Title
A novel de novo variant of GABRA1 causes increased sensitivity for GABA in vitro.
  Journal
Sci Rep 10:2379 (2020)
DOI:10.1038/s41598-020-59323-6
Reference
  Authors
Carvill GL, Weckhuysen S, McMahon JM, Hartmann C, Moller RS, Hjalgrim H, Cook J, Geraghty E, O'Roak BJ, Petrou S, Clarke A, Gill D, Sadleir LG, Muhle H, von Spiczak S, Nikanorova M, Hodgson BL, Gazina EV, Suls A, Shendure J, Dibbens LM, De Jonghe P, Helbig I, Berkovic SF, Scheffer IE, Mefford HC
  Title
GABRA1 and STXBP1: novel genetic causes of Dravet syndrome.
  Journal
Neurology 82:1245-53 (2014)
DOI:10.1212/WNL.0000000000000291
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