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 		0.100 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 		0.100 Biomarker disease BEFREE DEPDC5 is now recognized as one of the genes most often implicated in familial/inherited focal epilepsy and brain malformations. 31174205 2019
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 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 		0.100 Biomarker disease BEFREE Restoration of phenotypic features by WT but not epilepsy-associated Depdc5 mutants, as well as by mTORC1 inhibition confirm the role of Depdc5 in the mTORC1-dependent molecular cascades, defining this pathway as a potential therapeutic target for <i>DEPDC5</i>-inherited forms of focal epilepsy. 29761115 2018
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 GeneticVariation disease BEFREE Mutations in DEPDC5 are causal factors for a broad spectrum of focal epilepsies, but the underlying pathogenic mechanisms are still largely unknown. 29861134 2018
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 Biomarker disease BEFREE DEPDC5 takes a second hit in familial focal epilepsy. 29708509 2018
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 AlteredExpression disease BEFREE Furthermore, we demonstrate the causality of a Depdc5 brain mosaic inactivation using CRISPR-Cas9 editing and in utero electroporation in a mouse model recapitulating focal epilepsy with FCD and SUDEP-like events. 29708508 2018
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 Biomarker disease BEFREE Our finding suggests that DEPDC5 is not only the most common gene for familial focal epilepsy but also could be a significant gene for sporadic focal epilepsy. 28170089 2017
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 Biomarker disease BEFREE Expert opinion: DEPDC5 is an attractive therapeutic target in focal epilepsy, as effects of DEPDC5 agonists would likely be anti-epileptogenic and more selective than currently available mTOR inhibitors. 28406046 2017
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 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
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 GeneticVariation disease BEFREE Recently, we identified mutations in DEPDC5 as a cause of familial focal epilepsy. 26505888 2016
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 GeneticVariation disease BEFREE The discovery of mutations in DEPDC5 in familial focal epilepsies has introduced a novel pathomechanism to a field so far dominated by ion channelopathies. 27173016 2016
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 GeneticVariation disease BEFREE In total, we found a single DEPDC5 mutation in one of (2.2%) 45 families with genetic temporal lobe epilepsy, a proportion much lower than that reported in other inherited focal epilepsies. 26216793 2015
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 GeneticVariation disease BEFREE Seven patients from 4 families with DEPDC5 mutations and focal epilepsy associated with FCD were recruited and investigated at the clinical, neuroimaging, and histopathological levels. 25623524 2015
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 GeneticVariation disease BEFREE Here, we investigate the effects of 10 DEPDC5 variants identified in individuals with focal epilepsy and two DEPDC5 variants identified in serous ovarian tumors, on TORC1 signaling and GATOR-1 complex formation. 25366275 2015
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 GeneticVariation disease BEFREE Molecular genetic advances in inherited focal epilepsies have pinpointed their genetic heterogeneity and the fact that they are mediated by different biological pathways: ion channel subunit genes have been linked to ADNFLE (CHRNA4, CHRNA2, CHRNB2, and KCNT1, encoding, respectively, the α4, α2, and β2 subunits of the neuronal nicotinic acetylcholine receptor, and a potassium channel subunit); neuronal secreted protein (LGI1-encoding epitempin) has been linked to autosomal dominant epilepsy with auditory features; and mTORC1-repressor DEPDC5 (DEP domain-containing protein 5) gene has recently been reported in a broad spectrum of inherited focal epilepsies (ADNFLE, FTLE, FFEVF). 25194487 2014
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 GeneticVariation disease BEFREE Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. 24585383 2014
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 GeneticVariation disease BEFREE DEPDC5 mutations in genetic focal epilepsies of childhood. 24591017 2014
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 Biomarker disease BEFREE A particular focus is DEPDC5, the first gene for nonlesional focal epilepsy likely to be relevant to sporadic patients with focal epilepsies and those from small families, in contrast to rare large families with autosomal dominant focal epilepsies. 24615646 2014
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 GeneticVariation disease BEFREE Our results support the view that mutations in the DEPDC5 gene are an important cause of autosomal dominant focal epilepsies in the FC population, including a founder mutation that is specific to this population. 24283814 2014
CUI: C0014547
Disease: Epilepsies, Partial
Epilepsies, Partial 		0.100 GeneticVariation disease BEFREE Our findings provided evidence of frequent (37%) loss-of-function mutations in DEPDC5 associated with a broad spectrum of focal epilepsies. 23542701 2013