KEGG   VARIANT: 10641v1
Entry
10641v1                      Variant                               
Name
NPRL2 mutation
Type
Loss of function
Gene
NPRL2  NPR2 like, GATOR1 complex subunit [KO:K20405]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 607072
Network
nt06522  mTOR signaling
Disease
H02214  Familial focal epilepsy with variable foci
Reference
  Authors
Weckhuysen S, Marsan E, Lambrecq V, Marchal C, Morin-Brureau M, An-Gourfinkel I, Baulac M, Fohlen M, Kallay Zetchi C, Seeck M, de la Grange P, Dermaut B, Meurs A, Thomas P, Chassoux F, Leguern E, Picard F, Baulac S
  Title
Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.
  Journal
Epilepsia 57:994-1003 (2016)
DOI:10.1111/epi.13391
LinkDB

DBGET integrated database retrieval system