KEGG   VARIANT: 2556v1
Entry
2556v1                      Variant                                
Name
GABRA3 mutation
Type
Loss of function
Gene
GABRA3  gamma-aminobutyric acid type A receptor subunit alpha3 [KO:K05175]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 305660
Network
nt06544  Neuroactive ligand signaling
Disease
H02889  X-linked epilepsy-2 with or without impaired intellectual development and dysmorphic features
Reference
  Authors
Niturad CE, Lev D, Kalscheuer VM, Charzewska A, Schubert J, Lerman-Sagie T, Kroes HY, Oegema R, Traverso M, Specchio N, Lassota M, Chelly J, Bennett-Back O, Carmi N, Koffler-Brill T, Iacomino M, Trivisano M, Capovilla G, Striano P, Nawara M, Rzonca S, Fischer U, Bienek M, Jensen C, Hu H, Thiele H, Altmuller J, Krause R, May P, Becker F, Balling R, Biskup S, Haas SA, Nurnberg P, van Gassen KLI, Lerche H, Zara F, Maljevic S, Leshinsky-Silver E
  Title
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features.
  Journal
Brain 140:2879-2894 (2017)
DOI:10.1093/brain/awx236
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