KEGG   VARIANT: 6506v1
Entry
6506v1                      Variant                                
Name
SLC1A2 gain-of-function mutation
Type
Gain of function
Gene
SLC1A2  excitatory amino acid transporter 2 isoform 1 [KO:K05613]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600300
Network
nt06544  Neuroactive ligand signaling
Disease
H00606  Early infantile epileptic encephalopathy
H01819  Early myoclonic encephalopathy
Reference
PMID:28777935
  Authors
Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI, Suri M, Elmslie F, Simon MEH, van Gassen KLI, Heron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ
  Title
De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.
  Journal
Am J Hum Genet 101:300-310 (2017)
DOI:10.1016/j.ajhg.2017.07.004
Reference
PMID:34961934
  Authors
Kovermann P, Kolobkova Y, Franzen A, Fahlke C
  Title
Mutations associated with epileptic encephalopathy modify EAAT2 anion channel function.
  Journal
Epilepsia 63:388-401 (2022)
DOI:10.1111/epi.17154
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