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.