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 |
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 |
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 |
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 |
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 |
Epilepsies, Partial
|
0.100 |
Biomarker
|
disease |
BEFREE |
DEPDC5 takes a second hit in familial focal epilepsy.
|
29708509 |
2018 |
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 |
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 |
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 |
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 |
Epilepsies, Partial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Recently, we identified mutations in DEPDC5 as a cause of familial focal epilepsy.
|
26505888 |
2016 |
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 |
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 |
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 |
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 |
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 |
Epilepsies, Partial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations.
|
24585383 |
2014 |
Epilepsies, Partial
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
DEPDC5 mutations in genetic focal epilepsies of childhood.
|
24591017 |
2014 |
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 |
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 |
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 |