Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Malformations of Cortical Development
0.400 Biomarker disease BEFREE Patients with mammalian target of rapamycin (mTOR)-dependent malformations of cortical development (MCDs) associated with seizures display hyperperfusion and increased vessel density of the dysmorphic cortical tissue. 31125447 2019
Malformations of Cortical Development
0.400 Biomarker disease BEFREE The mechanistic target of rapamycin (mTOR) pathway has been implicated in a growing number of malformations of cortical development (MCD) associated with intractable epilepsy. 31625153 2019
Malformations of Cortical Development
0.400 GeneticVariation disease BEFREE A broad spectrum of malformations of cortical development, such as focal cortical dysplasia (FCD) and tuberous sclerosis complex (TSC), have been linked to either germline or somatic mutations in mTOR pathway-related genes, commonly summarised under the umbrella term 'mTORopathies'. 30901081 2019
Malformations of Cortical Development
0.400 GeneticVariation disease BEFREE We review the neuroimaging findings in brain abnormalities related to alterations in the mTOR pathway, following the emerging trend from morphology towards genetics in the classification of malformations of cortical development. 29279945 2018
Malformations of Cortical Development
0.400 GeneticVariation disease BEFREE Somatic mutation of the MTOR gene is a genetic etiology of focal malformations of cortical development.In this issue of Neuron, Park et al. 30001510 2018
Malformations of Cortical Development
0.400 GeneticVariation disease BEFREE Mutations in DEPDC5 and NPRL3 subunits of GATOR1, a modulator of mechanistic target of rapamycin (mTOR), are linked to malformations of cortical development (MCD). 29481864 2018
Malformations of Cortical Development
0.400 Biomarker disease BEFREE Over the last decade, there has been increasing evidence that hyperactivation of the mechanistic target of rapamycin (mTOR) pathway is a hallmark of malformations of cortical development such as focal cortical dysplasia (FCD) or hemimegalencephaly. 29359340 2018
Malformations of Cortical Development
0.400 Biomarker disease BEFREE Targeting the Mammalian Target of Rapamycin for Epileptic Encephalopathies and Malformations of Cortical Development. 29246093 2018
Malformations of Cortical Development
0.400 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
Malformations of Cortical Development
0.400 GeneticVariation disease BEFREE Altogether, this study describes a molecular mechanism by which brain somatic mutations in MTOR contribute to the pathogenesis of cortical dyslamination in FMCDs. 29937275 2018
Malformations of Cortical Development
0.400 AlteredExpression disease BEFREE Over the past decade enhanced activation of the mammalian target of rapamycin (mTOR)-signaling cascade has been identified in focal malformations of cortical development (MCD) subtypes, which have been collectively referred to as "mTORopathies." 25833943 2015
Malformations of Cortical Development
0.400 Biomarker disease BEFREE Postzygotic somatic mutations activating the phosphatidylinositol-4,5-bisphosphate-3-kinase (PI3K)-protein kinase B (AKT)-mammalian target of rapamycin (mTOR) pathway are found in a wide range of brain diseases, including FMCDs. 26523971 2015
Malformations of Cortical Development
0.400 GeneticVariation disease BEFREE As DEPDC5 is a negative regulator of the mammalian target of rapamycin (mTOR) pathway, it is likely that some patients with DEPDC5 mutations may have malformations of cortical development akin to the two-hit hypothesis suggested in tuberous sclerosis. 24615646 2014
Malformations of Cortical Development
0.400 Biomarker disease CTD_human De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. 22729223 2012