NPRL2, NPR2 like, GATOR1 complex subunit, 10641

N. diseases: 45; N. variants: 6
Disease: Epilepsies, Partial ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.040 Biomarker disease BEFREE Mutations in the GAP activity toward RAGs 1 (GATOR1) complex genes (DEPDC5, NPRL2 and NPRL3) have been associated with focal epilepsy and focal cortical dysplasia (FCD). 31639411 2020
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.040 GeneticVariation disease BEFREE In this study, we aimed to identify the frequency of variants in DEPDC5, NPRL2 and NPRL3 in patients with sporadic drug-resistant focal epilepsy. 30427063 2019
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.040 GeneticVariation disease BEFREE Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy. 26505888 2016
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.040 Biomarker disease BEFREE The involvement of DEPDC5, NPRL2 and NRPL3 in about 10% of FEs is in contrast to the concept that specific seizure semiology points to the main involvement of a distinct brain area. 27208208 2016