Condition: EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3
rs1431914212
in
NPRL3
gene and
EPILEPSY, FAMILIAL FOCAL, WITH VARIABLE FOCI 3
PMID 26505888
2016 Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.
PMID 26285051
2016 Familial cortical dysplasia caused by mutation in the mammalian target of rapamycin regulator NPRL3.
PMID 27173016
2016 Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia.