|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Tuberous sclerosis complex (TSC) is a genetic disease related to hyperactivation of the mechanistic target of rapamycin (mTOR) pathway and manifested by neurological symptoms, such as epilepsy and sleep disorders.
|
31605778 |
2020 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Hyperactivity of the mTOR pathway is associated with numerous human diseases, including diabetes, cancer and epilepsy.
|
31722960 |
2019 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
This group of syndromes presents with additional neurological manifestations associated with epilepsy and other neuropsychiatric symptoms induced by neuronal mTOR pathway hyperactivation.
|
31752127 |
2019 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Germline and somatic mutation in genes belonging to the Mammalian Target of Rapamycin (mTOR) pathway has been identified in patients suffering from epilepsy secondary to Hemimegalencephaly and focal cortical dysplasia.
|
30414531 |
2019 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Hyperactivation of the mechanistic target of rapamycin (mTOR) pathway is associated with epilepsy, autism and brain growth abnormalities in humans. mTOR hyperactivation often results from developmental somatic mutations, producing genetic lesions and associated dysfunction in relatively restricted populations of neurons.
|
31377403 |
2019 |
|
Epilepsy
|
0.100 |
Biomarker
|
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 |
Biomarker
|
disease |
BEFREE |
The dysregulation of mTOR is involved in human diseases including cancer, cardiovascular diseases, neurodegenerative diseases, and epilepsy.
|
31547370 |
2019 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
The underlying mechanisms are not fully delineated; however, activation of mammalian target of rapamycin (mTOR) has been shown to be engaged in the pathogenesis of epilepsy, in which seizures are a regular occurrence.
|
31564412 |
2019 |
|
Epilepsy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
These data demonstrate that neuronal mTOR hyperactivity levels influence the severity of epilepsy and associated neuropathology in experimental TSC and FCD.
|
30700531 |
2019 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Our findings support the contribution of ultrarare variants in genes in the mTOR pathway complexes GATOR and TSC to the risk of sporadic FE and a shared genetic basis between rare and common epilepsies.
|
30911571 |
2019 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
In contrast, postnatal inactivation of Tsc1 utilizing a tamoxifen-inducible Cx3cr1-CreER resulted in a more-selective microglia Tsc1 inactivation with high efficiency, mTORC1 activation, and increased microglial size and number, but no documented epilepsy.
|
30079598 |
2018 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Of those who received treatment for epilepsy (92.3%), 99.5% were prescribed AEDs, 25.3% underwent surgery, 7.9% were prescribed special diets, and 1% were prescribed mammalian target of rapamycin (mTOR) inhibitors.
|
30103955 |
2018 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Review: Mechanistic target of rapamycin (mTOR) pathway, focal cortical dysplasia and epilepsy.
|
29359340 |
2018 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development.
|
29246093 |
2018 |
|
Epilepsy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Since hyper-activation of mTOR participates in epilepsy, its inhibition results in beneficial anti-convulsive effects.
|
30132243 |
2018 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Previous studies in various rodent epilepsy models have suggested that mammalian target of rapamycin (mTOR) inhibition with rapamycin has anti-epileptogenic potential.
|
30037344 |
2018 |
|
Epilepsy
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Here, we investigated whether constitutive mTOR hyperactivation in the hippocampus is associated with altered voltage-gated ion channel expression in the neuronal subset-specific Pten knockout (NS-Pten KO) mouse model of CD with epilepsy.
|
29476105 |
2018 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Recently, a double-blind phase III randomized clinical trial on patients with TSC related epilepsy, demonstrated that adjunctive treatment with mTOR inhibition is effective and safe in reducing focal drug resistant seizures.Expert commentary. mTOR signaling dysregulation represents a common pathogenic mechanism in a subset of malformations of cortical development, sharing histopathological and clinical features, including epilepsy, autism, and intellectual disability.
|
29338461 |
2018 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Disturbances in mTOR pathway have been associated with several neurological diseases, such as autism and epilepsy.
|
29203851 |
2018 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Inhibition of the mTOR pathway by rapamycin may be a potential therapeutic approach for pharmacoresistant epilepsy.
|
28229367 |
2017 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
Because dysregulation of the (immuno)proteasome system is observed before the occurrence of spontaneous seizures in rats, is associated with progression of epilepsy, and can be modulated via the mTOR pathway, it may represent an interesting novel target for drug treatment in epilepsy.
|
28643873 |
2017 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
The mechanistic target of rapamycin complex 1 (mTORC1) is a central regulator of cell growth that responds to diverse environmental signals and is deregulated in many human diseases, including cancer and epilepsy.
|
28199306 |
2017 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
By using a tamoxifen-inducible mTOR conditional knockout system and kainic acid, a model was developed that allowed astrocyte-specific mTOR gene deletion in mice with chronic epilepsy.
|
26732600 |
2017 |
|
Epilepsy
|
0.100 |
Biomarker
|
disease |
BEFREE |
The establishment of a connection between TSC and mTOR led to the clinical use of drugs known as mTOR inhibitors (like rapamycin, also known as sirolimus and everolimus), which are becoming an increasingly interesting tool in the management of TSC-associated features, such as subependymal giant cell astrocytomas, renal angiomyolipomas, and also epilepsy.
|
28386314 |
2017 |
|
Epilepsy
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Collapsin response mediator protein (CRMP)-2 and the mammalian target of rapamycin complex 1 (mTORC1) signaling pathway are associated with common physiological functions such as neuronal polarity, axonal outgrowth and synaptic strength, as well as various brain disorders including epilepsy.
|
28966575 |
2017 |