|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Generation of Depdc5 null 'clones' in the embryonic brain resulted in mTORC1 hyperactivity and modelled epilepsy and FCD symptoms including large dysmorphic neurons, defective migration and lower seizure thresholds.
|
31639411 |
2020 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Individuals with pathogenic variants in DEPDC5 are at risk for epilepsy, associated neuropsychiatric comorbidities and sudden unexplained death in epilepsy.
|
31174205 |
2019 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
The role of the GATOR1 proteins in regulating mTOR signaling suggest plausible options for mTOR inhibition in the treatment of epilepsy associated with mutations in DEPDC5, NPRL3, or NPRL2.
|
31625153 |
2019 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway METHODS: We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants.
|
30093711 |
2019 |
|
Epilepsy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
In this study, we defined the expression of <i>depdc5</i> during development and established an epilepsy model with reduced Depdc5 expression.
|
29761115 |
2018 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Second-hit mosaic mutation in mTORC1 repressor DEPDC5 causes focal cortical dysplasia-associated epilepsy.
|
29708508 |
2018 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
In vitro, DEPDC5 negatively regulates amino acid sensing by the mTOR complex 1 (mTORC1) pathway, but the role of DEPDC5 in neurodevelopment and epilepsy has not been described.
|
29274432 |
2018 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
DEPDC5 as a potential therapeutic target for epilepsy.
|
28406046 |
2017 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation.
|
29125946 |
2017 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Together, these data support mTORC1 hyperactivation as the likely pathogenic mechanism that underpins DEPDC5 loss of function in humans and highlights the potential utility of mTORC1 inhibitors in the treatment of DEPDC5-associated epilepsy.
|
28974734 |
2017 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our study also indicates that epilepsy surgery is a valuable alternative in the treatment of drug-resistant DEPDC5-positive focal epilepsies, even if the MRI is unremarkable.
|
25623524 |
2015 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings extend the phenotypic spectrum associated with mutations in DEPDC5 and suggest that rolandic epilepsy, albeit rarely, and other nonlesional childhood epilepsies are among the associated syndromes.
|
24591017 |
2014 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here we show that DEPDC5 mutations are associated with both lesional and nonlesional epilepsies, even within the same family.
|
24585383 |
2014 |
|
Epilepsy
|
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 |