KEGG   VARIANT: 10991v1
Entry
10991v1                      Variant                               
Name
SLC38A3 mutation
Type
Loss of function
Gene
SLC38A3  solute carrier family 38 member 3 [KO:K13576]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 604437
Network
nt06544  Neuroactive ligand signaling
Disease
H00606  Early infantile epileptic encephalopathy
Reference
  Authors
Marafi D, Fatih JM, Kaiyrzhanov R, Ferla MP, Gijavanekar C, Al-Maraghi A, Liu N, Sites E, Alsaif HS, Al-Owain M, Zakkariah M, El-Anany E, Guliyeva U, Guliyeva S, Gaba C, Haseeb A, Alhashem AM, Danish E, Karageorgou V, Beetz C, Subhi AA, Mullegama SV, Torti E, Sebastin M, Breilyn MS, Duberstein S, Abdel-Hamid MS, Mitani T, Du H, Rosenfeld JA, Jhangiani SN, Coban Akdemir Z, Gibbs RA, Taylor JC, Fakhro KA, Hunter JV, Pehlivan D, Zaki MS, Gleeson JG, Maroofian R, Houlden H, Posey JE, Sutton VR, Alkuraya FS, Elsea SH, Lupski JR
  Title
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
  Journal
Brain 145:909-924 (2022)
DOI:10.1093/brain/awab369
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