KEGG   VARIANT: 5649v1
Entry
5649v1                      Variant                                
Name
RELN mutation
Type
Loss of function
Gene
RELN  reelin [KO:K06249]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 600514
Network
nt06548  Integrin signaling
Disease
H00268  Lissencephaly
H00809  Familial epilepsy temporal lobe (ETL)
Reference
  Authors
Dazzo E, Fanciulli M, Serioli E, Minervini G, Pulitano P, Binelli S, Di Bonaventura C, Luisi C, Pasini E, Striano S, Striano P, Coppola G, Chiavegato A, Radovic S, Spadotto A, Uzzau S, La Neve A, Giallonardo AT, Mecarelli O, Tosatto SC, Ottman R, Michelucci R, Nobile C
  Title
Heterozygous reelin mutations cause autosomal-dominant lateral temporal epilepsy.
  Journal
Am J Hum Genet 96:992-1000 (2015)
DOI:10.1016/j.ajhg.2015.04.020
Reference
  Authors
Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, Martin ND, Walsh CA
  Title
Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.
  Journal
Nat Genet 26:93-6 (2000)
DOI:10.1038/79246
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