Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 6326
Gene Symbol: SCN2A
SCN2A
0.500 CausalMutation disease CLINVAR SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia, myoclonus, and pain. 20956790 2010
Entrez Id: 478
Gene Symbol: ATP1A3
ATP1A3
0.130 CausalMutation disease CLINVAR
Entrez Id: 7253
Gene Symbol: TSHR
TSHR
0.110 CausalMutation disease CLINVAR
Entrez Id: 145508
Gene Symbol: CEP128
CEP128
0.100 CausalMutation disease CLINVAR
Entrez Id: 51633
Gene Symbol: OTUD6B
OTUD6B
0.100 CausalMutation disease CLINVAR
Entrez Id: 254359
Gene Symbol: ZDHHC24
ZDHHC24
0.100 CausalMutation disease CLINVAR
Entrez Id: 5830
Gene Symbol: PEX5
PEX5
0.100 CausalMutation disease CLINVAR A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform. 26220973 2015
Entrez Id: 582
Gene Symbol: BBS1
BBS1
0.100 CausalMutation disease CLINVAR
Entrez Id: 2904
Gene Symbol: GRIN2B
GRIN2B
0.650 AlteredExpression disease BEFREE Additionally, the downregulation of NR2B, p‑NR1 and p‑GluR1 in the miR‑34c agomir group demonstrated that miR‑34c may serve a negative role in cognitive function in epileptic seizures, by dysregulating NMDA and α-amino-3-hydroxy-5‑methyl‑4‑isoxazolepropionic acid receptors, which are associated with long‑term potentiation. 29344671 2018
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.600 AlteredExpression disease BEFREE The P-gp encoded by the ABCB1 and ABCC2 genes are expressed in drug resistant patients with epilepsy. 23717663 2013
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.600 AlteredExpression disease BEFREE Further, for NF-κB p65, MDR1, P-gp and apoptosis-associated protein levels detection, miR-542-3p mimic showed a suppressive effect on these KA-induced protein levels, whereas TLR4 overexpression ameliorated the miR-542-3p-induced these protein levels in KA-treated epilepsy rats. 31702493 2019
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.600 AlteredExpression disease BEFREE Overall our initial characterization of Pcdh19(+/β-Geo), Pcdh19(β-Geo/β-Geo) and Pcdh19(Y/β-Geo)mice reveals that despite widespread expression of Pcdh19 in the CNS, and its role in human epilepsy, its function in mice is not essential for brain development. 27240640 2016
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.600 AlteredExpression disease BEFREE Our data provide key signaling steps underlying seizure-induced P-gp up-regulation and suggest that mPGES-1 inhibitors could potentially prevent P-gp up-regulation in epilepsy.-Soldner, E. L. B., Hartz, A. M. S., Akanuma, S.-I., Pekcec, A., Doods, H., Kryscio, R. J., Hosoya, K.-I., Bauer, B. Inhibition of human microsomal PGE2 synthase-1 reduces seizure-induced increases of P-glycoprotein expression and activity at the blood-brain barrier. 31638830 2019
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.600 AlteredExpression disease BEFREE The present study attempted to evaluate association of polymorphisms of CYP2C9, CYP2C19, and ABCB1, and P-gp activity with treatment response in patients with epilepsy. 25121365 2016
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
0.600 AlteredExpression disease BEFREE KCC2 downregulation facilitates epileptic seizures. 28279020 2017
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.600 AlteredExpression disease BEFREE Our results suggest that ABCB1 3435-TT is associated with decreased plasma CBZ levels in Chinese patients with epilepsy. 21493161 2011
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.600 AlteredExpression disease BEFREE In addition to Pgp, increased expression of several multidrug resistance-associated proteins (MRPs) has been determined in epileptogenic brain regions of patients with pharmacoresistant epilepsy. 20080116 2010
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
0.600 AlteredExpression disease BEFREE Reductions in KCC2 activity are evident in epilepsy; however, whether these deficits directly contribute to the underlying pathophysiology remains controversial. 30224498 2018
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.600 AlteredExpression disease BEFREE Recent evidence suggests that the homozygous C-variant, which is associated with higher expression and increased activity of P-gp, is more common in patients with pharmacoresistant epilepsy. 15857428 2005
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
0.600 AlteredExpression disease BEFREE We suggest that a strategy of augmenting KCC2 activity by antagonizing its critical inhibitory phosphorylation sites may be a particularly efficacious method of facilitating Cl<sup>-</sup> extrusion and restoring GABA inhibition to treat medication-refractory epilepsy and other seizure disorders. 31803025 2019
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
0.600 AlteredExpression disease BEFREE The neuronal specific K<sup>+</sup>/Cl<sup>-</sup> co-transporter 2 (KCC2) is a critical determinant of the efficacy of GABAergic inhibition and deficits in its activity are observed in mTLE patients and animal models of epilepsy. 29884458 2018
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.600 AlteredExpression disease BEFREE Exposing isolated rat brain capillaries to glutamate ex vivo upregulated P-gp expression to levels that were similar to those in capillaries isolated from rats that had status epilepticus or chronic epilepsy. 28195743 2017
Entrez Id: 57468
Gene Symbol: SLC12A5
SLC12A5
0.600 AlteredExpression disease BEFREE Molecular studies revealed significantly lower levels of KCC2 expression in patients with epilepsy, a finding that remarkably correlated with microstructural changes as well. 30817684 2019
Entrez Id: 57526
Gene Symbol: PCDH19
PCDH19
0.600 AlteredExpression disease BEFREE PCDH19 is expressed in developing brains of human and mouse and is the first member of the cadherin superfamily to be directly implicated in epilepsy or mental retardation. 18469813 2008
Entrez Id: 5243
Gene Symbol: ABCB1
ABCB1
0.600 AlteredExpression disease LHGDN Multidrug resistance proteins in tuberous sclerosis and refractory epilepsy. 14984901 2004