Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 2670
Gene Symbol: GFAP
GFAP
0.400 AlteredExpression disease BEFREE The hippocampal GFAP, synaptophysin and mGluR3 expressions where upregulated in PTZ rats with PFS history when compared to PTZ rats alone.These findings indicated that PFS may increase the severity of epilepsy and alter brain expression of GFAP, synaptophysin and mGluR3 proteins. 31837458 2020
Entrez Id: 2913
Gene Symbol: GRM3
GRM3
0.030 AlteredExpression disease BEFREE The hippocampal GFAP, synaptophysin and mGluR3 expressions where upregulated in PTZ rats with PFS history when compared to PTZ rats alone.These findings indicated that PFS may increase the severity of epilepsy and alter brain expression of GFAP, synaptophysin and mGluR3 proteins. 31837458 2020
Entrez Id: 6855
Gene Symbol: SYP
SYP
0.020 AlteredExpression disease BEFREE The hippocampal GFAP, synaptophysin and mGluR3 expressions where upregulated in PTZ rats with PFS history when compared to PTZ rats alone.These findings indicated that PFS may increase the severity of epilepsy and alter brain expression of GFAP, synaptophysin and mGluR3 proteins. 31837458 2020
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
0.060 GeneticVariation disease BEFREE Analysis revealed that serum concentrations (calculated from DBS) within the respective reference ranges were attained in only 52.9% of the 68 Nodding syndrome patients treated with valproic acid, in 21.4% of the 56 Ugandan epilepsy patients treated with carbamazepine, and in 65.7% of the 137 onchocerciasis-associated epilepsy patients from the DRC treated with phenobarbital. 31834012 2019
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
0.060 GeneticVariation disease BEFREE Analysis revealed that serum concentrations (calculated from DBS) within the respective reference ranges were attained in only 52.9% of the 68 Nodding syndrome patients treated with valproic acid, in 21.4% of the 56 Ugandan epilepsy patients treated with carbamazepine, and in 65.7% of the 137 onchocerciasis-associated epilepsy patients from the DRC treated with phenobarbital. 31834012 2019
Entrez Id: 3778
Gene Symbol: KCNMA1
KCNMA1
0.070 Biomarker disease BEFREE Importantly, our analysis showed KCNMA1 as a common gene signature with a link to epilepsy, movement disorders and wide paroxysmal neurological presentations-with the greatest potential risk of being a disease gene in a paroxysmal or psychiatric disorder. 31808001 2019
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: 5816
Gene Symbol: PVALB
PVALB
0.080 Biomarker disease BEFREE These results may explain conflicting findings from previous studies that have reported both preserved and decreased PV bouton densities and establish a new standard for quantitative assessment of interneuron boutons in epilepsy. 31800363 2020
Entrez Id: 23263
Gene Symbol: MCF2L
MCF2L
0.060 Biomarker disease BEFREE Use of the mixed reality tool "VSI Patient Education" for more comprehensible and imaginable patient educations before epilepsy surgery and stereotactic implantation of DBS or stereo-EEG electrodes. 31794952 2020
Entrez Id: 4036
Gene Symbol: LRP2
LRP2
0.060 Biomarker disease BEFREE Use of the mixed reality tool "VSI Patient Education" for more comprehensible and imaginable patient educations before epilepsy surgery and stereotactic implantation of DBS or stereo-EEG electrodes. 31794952 2020
Entrez Id: 7226
Gene Symbol: TRPM2
TRPM2
0.020 Biomarker disease BEFREE The main findings of our study were: (a) TRPM2-KO had a protective effect on epilepsy; (b) TRPM2-KO improved spatial memory deficits overtime during epilepsy, but it did not improve anxiety; (c) the protective effect probably occurred via the PARP1 downstream signaling pathway; (d) TRPM2-KO could ameliorate epilepsy-induced hippocampal pathological damages and weaken astrocyte activation. 31794795 2020
Entrez Id: 142
Gene Symbol: PARP1
PARP1
0.010 Biomarker disease BEFREE The transient receptor potential melastatin type 2 channel (TRPM2) is a Ca<sup>2+</sup>-permeable cation channel that contributes to cell apoptosis; its possible signaling pathway is the PARP1/BNIP3/AIF/Endo G pathway that may be related to epilepsy. 31794795 2020
Entrez Id: 664
Gene Symbol: BNIP3
BNIP3
0.010 Biomarker disease BEFREE The transient receptor potential melastatin type 2 channel (TRPM2) is a Ca<sup>2+</sup>-permeable cation channel that contributes to cell apoptosis; its possible signaling pathway is the PARP1/BNIP3/AIF/Endo G pathway that may be related to epilepsy. 31794795 2020
Entrez Id: 9131
Gene Symbol: AIFM1
AIFM1
0.010 Biomarker disease BEFREE The transient receptor potential melastatin type 2 channel (TRPM2) is a Ca<sup>2+</sup>-permeable cation channel that contributes to cell apoptosis; its possible signaling pathway is the PARP1/BNIP3/AIF/Endo G pathway that may be related to epilepsy. 31794795 2020
Entrez Id: 8856
Gene Symbol: NR1I2
NR1I2
0.240 Biomarker disease BEFREE New therapeutic targets like IDO, nNOS, PAR1, NF-κb are being explored for their role in epilepsy and various comorbidities. 31793425 2019
Entrez Id: 3620
Gene Symbol: IDO1
IDO1
0.020 Biomarker disease BEFREE New therapeutic targets like IDO, nNOS, PAR1, NF-κb are being explored for their role in epilepsy and various comorbidities. 31793425 2019
Entrez Id: 2149
Gene Symbol: F2R
F2R
0.010 Biomarker disease BEFREE New therapeutic targets like IDO, nNOS, PAR1, NF-κb are being explored for their role in epilepsy and various comorbidities. 31793425 2019
Entrez Id: 145624
Gene Symbol: PWAR1
PWAR1
0.010 Biomarker disease BEFREE New therapeutic targets like IDO, nNOS, PAR1, NF-κb are being explored for their role in epilepsy and various comorbidities. 31793425 2019
Entrez Id: 79581
Gene Symbol: SLC52A2
SLC52A2
0.010 Biomarker disease BEFREE New therapeutic targets like IDO, nNOS, PAR1, NF-κb are being explored for their role in epilepsy and various comorbidities. 31793425 2019
Entrez Id: 3098
Gene Symbol: HK1
HK1
0.010 AlteredExpression disease BEFREE The gene associated with retinoid-interferon-induced mortality-19 (GRIM-19) plays several significant roles in cellular processes, including ATP synthesis, reactive oxygen species formation, and the regulation of glycolytic enzyme activity, which are closely related to the pathophysiological mechanisms of epilepsy. 31790668 2020
Entrez Id: 51079
Gene Symbol: NDUFA13
NDUFA13
0.010 AlteredExpression disease BEFREE The gene associated with retinoid-interferon-induced mortality-19 (GRIM-19) plays several significant roles in cellular processes, including ATP synthesis, reactive oxygen species formation, and the regulation of glycolytic enzyme activity, which are closely related to the pathophysiological mechanisms of epilepsy. 31790668 2020
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.500 GeneticVariation disease BEFREE Comparisons of dual isogenic human iPSC pairs identify functional alterations directly caused by an epilepsy associated SCN1A mutation. 31786370 2020
Entrez Id: 729230
Gene Symbol: CCR2
CCR2
0.010 Biomarker disease BEFREE In the present study, the effects of CCR2 antagonist was investigated using the pilocarpine rat model of epilepsy. 31785482 2020
Entrez Id: 1460
Gene Symbol: CSNK2B
CSNK2B
0.010 GeneticVariation disease BEFREE Among the 816 probands suspected hereditary epilepsy whose initial report of trio-based whole exome sequencing (WES) were negative, 10 de novo pathogenic or likely pathogenic variants of CSNK2B in nine probands were identified after reanalysis of their raw Trio-WES data. 31784560 2019
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.500 GeneticVariation disease BEFREE Variants in the SCN1A gene are associated with a wide range of disorders including genetic epilepsy with febrile seizures plus (GEFS+), familial hemiplegic migraine (FHM), and the severe childhood epilepsy Dravet syndrome (DS). 31782251 2019