KEGG   VARIANT: 51083v1
Entry
51083v1                      Variant                               
Name
GAL mutation
Type
Loss of function
Gene
GAL  galanin and GMAP prepropeptide [KO:K05244]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 137035
Network
nt06325  Hormone/cytokine signaling
Disease
H00809  Familial epilepsy temporal lobe (ETL)
Reference
  Authors
Guipponi M, Chentouf A, Webling KE, Freimann K, Crespel A, Nobile C, Lemke JR, Hansen J, Dorn T, Lesca G, Ryvlin P, Hirsch E, Rudolf G, Rosenberg DS, Weber Y, Becker F, Helbig I, Muhle H, Salzmann A, Chaouch M, Oubaiche ML, Ziglio S, Gehrig C, Santoni F, Pizzato M, Langel U, Antonarakis SE
  Title
Galanin pathogenic mutations in temporal lobe epilepsy.
  Journal
Hum Mol Genet 24:3082-91 (2015)
DOI:10.1093/hmg/ddv060
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