Variant: rs1060501488

present in Gene: DEPDC5 present in Chromosome: 22 Position on Chromosome: 31778119 Alleles of this Variant: G/A

rs1060501488 in DEPDC5 gene and Epilepsy, Partial, with Variable Foci PMID 26505888 2016 Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy.

PMID 23542697 2013 Mutations in DEPDC5 cause familial focal epilepsy with variable foci.