KEGG   VARIANT: 140679v1
Entry
140679v1                      Variant                              
Name
SLC32A1 mutation
Type
Loss of function
Gene
SLC32A1  solute carrier family 32 member 1 [KO:K15015]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 616440
Network
nt06544  Neuroactive ligand signaling
Disease
H00606  Early infantile epileptic encephalopathy
H02564  Generalized epilepsy with febrile seizures plus
Reference
  Authors
Heron SE, Regan BM, Harris RV, Gardner AE, Coleman MJ, Bennett MF, Grinton BE, Helbig KL, Sperling MR, Haut S, Geller EB, Widdess-Walsh P, Pelekanos JT, Bahlo M, Petrovski S, Heinzen EL, Hildebrand MS, Corbett MA, Scheffer IE, Gecz J, Berkovic SF
  Title
Association of SLC32A1 Missense Variants With Genetic Epilepsy With Febrile Seizures Plus.
  Journal
Neurology 96:e2251-e2260 (2021)
DOI:10.1212/WNL.0000000000011855
Reference
  Authors
Platzer K, Sticht H, Bupp C, Ganapathi M, Pereira EM, Le Guyader G, Bilan F, Henderson LB, Lemke JR, Taschenberger H, Brose N, Abou Jamra R, Wojcik SM
  Title
De Novo Missense Variants in SLC32A1 Cause a Developmental and Epileptic Encephalopathy Due to Impaired GABAergic Neurotransmission.
  Journal
Ann Neurol 92:958-973 (2022)
DOI:10.1002/ana.26485
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