Source: ALL
Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 100528023
Gene Symbol: PPR1
PPR1
0.010 Biomarker phenotype BEFREE Preventive measures for related seizures should be performed to the patients with generalized PPR, upper threshold evoking frequency, and eyes closure sensitivity when they received the IPS. 31526678 2019
Entrez Id: 10021
Gene Symbol: HCN4
HCN4
0.010 AlteredExpression phenotype BEFREE Specifically, seizure activity has been shown to alter the messenger RNA (mRNA) and protein expression of voltage-gated sodium channels (Na<sub>v</sub> 1.1, Na<sub>v</sub> 1.5), voltage-gated potassium channels (K<sub>v</sub> 4.2, K<sub>v</sub> 4.3), sodium-calcium exchangers (NCX1), and nonspecific cation-conducting channels (HCN2, HCN4). 31353444 2019
Entrez Id: 6857
Gene Symbol: SYT1
SYT1
0.010 AlteredExpression phenotype BEFREE These data suggested that overexpression of P-gp and CYP3A during seizures and treated with CBZ may be regulated by PXR or NF-κB p65 activity and expression, which revealed a mechanism underlying the development of DRE. 30312753 2019
Entrez Id: 9429
Gene Symbol: ABCG2
ABCG2
0.010 AlteredExpression phenotype BEFREE Based on our previous studies, we hypothesized that glutamate released during seizures activates cytosolic phospholipase A2 (cPLA2), resulting in P-gp and BCRP overexpression. 31661303 2019
Entrez Id: 1508
Gene Symbol: CTSB
CTSB
0.010 AlteredExpression phenotype BEFREE Human hippocampal sclerotic tissues removed after surgery for seizure control, plasma, and serum were used in the following assays: immunostaining for white blood cells in the TLE hippocampus, C-reactive protein in serum, quantification of plasma kallikrein (PKal) and cathepsin B (CatB) activity in serum and plasma, quantification of C1-inhibitor, analysis of high-molecular-weight kininogen (H-kininogen) fragments, and activation of plasma prekallikrein for comparison with healthy controls. 31206169 2019
Entrez Id: 404552
Gene Symbol: SCGB1D4
SCGB1D4
0.010 Biomarker phenotype BEFREE IIS + HFO with the amplitude of 200 to 399 μV was influenced by and decreased after seizures. 30589767 2019
Entrez Id: 3818
Gene Symbol: KLKB1
KLKB1
0.010 Biomarker phenotype BEFREE Human hippocampal sclerotic tissues removed after surgery for seizure control, plasma, and serum were used in the following assays: immunostaining for white blood cells in the TLE hippocampus, C-reactive protein in serum, quantification of plasma kallikrein (PKal) and cathepsin B (CatB) activity in serum and plasma, quantification of C1-inhibitor, analysis of high-molecular-weight kininogen (H-kininogen) fragments, and activation of plasma prekallikrein for comparison with healthy controls. 31206169 2019
Entrez Id: 3827
Gene Symbol: KNG1
KNG1
0.010 AlteredExpression phenotype BEFREE Human hippocampal sclerotic tissues removed after surgery for seizure control, plasma, and serum were used in the following assays: immunostaining for white blood cells in the TLE hippocampus, C-reactive protein in serum, quantification of plasma kallikrein (PKal) and cathepsin B (CatB) activity in serum and plasma, quantification of C1-inhibitor, analysis of high-molecular-weight kininogen (H-kininogen) fragments, and activation of plasma prekallikrein for comparison with healthy controls. 31206169 2019
Entrez Id: 27349
Gene Symbol: MCAT
MCAT
0.010 Biomarker phenotype BEFREE The MCT KD treatment was initiated and rapid seizure control was observed within 6 days despite negative ketosis. 31316173 2019
Entrez Id: 5617
Gene Symbol: PRL
PRL
0.010 Biomarker phenotype BEFREE Recent evidence points PRL receptor (PRL-R) as mediator of such neuroprotective effects and seizures as regulators of neuronal marker transcript expression in the hippocampus. 30500398 2019
Entrez Id: 114794
Gene Symbol: ELFN2
ELFN2
0.010 Biomarker phenotype BEFREE Elfn2 knockout (Elfn2 KO) mice also feature a range of neuropsychiatric manifestations including seizure susceptibility, hyperactivity, and anxiety/compulsivity, which can be rescued by pharmacological augmentation of group III mGluRs. 31485013 2019
Entrez Id: 4155
Gene Symbol: MBP
MBP
0.010 AlteredExpression phenotype BEFREE After routine seizure threshold detection and Timm staining procedures at P57, expression of GPR39, ZnT-3, and MBP were detected in the hippocampus by Western blot analysis. 31551684 2019
Entrez Id: 442898
Gene Symbol: MIR324
MIR324
0.010 Biomarker phenotype BEFREE In a mouse model of acquired chronic epilepsy, inhibition of miR-324-5p reduced the frequency of spontaneous seizures and interictal epileptiform spikes supporting the physiological relevance of miR-324-5p-mediated control of A-type currents in regulating neuronal excitability. 31212067 2019
Entrez Id: 6363
Gene Symbol: CCL19
CCL19
0.010 Biomarker phenotype BEFREE The cytokines/chemokines (CXCL9, CXCL10, CXCL11, and CCL19) were elevated in FSE when compared to ASE despite the similar median seizure duration and timing of CSF testing in relation to seizures. 31283843 2019
Entrez Id: 1540
Gene Symbol: CYLD
CYLD
0.010 Biomarker phenotype BEFREE The crystal structure was determined by TEM and X-ray diffraction pattern refinement of whole powder pattern fitting. 31292810 2019
Entrez Id: 100188881
Gene Symbol: MFT2
MFT2
0.010 Biomarker phenotype BEFREE The crystal structure was determined by TEM and X-ray diffraction pattern refinement of whole powder pattern fitting. 31292810 2019
Entrez Id: 463
Gene Symbol: ZFHX3
ZFHX3
0.010 Biomarker phenotype BEFREE High-throughput behavioral assay to investigate seizure sensitivity in zebrafish implicates ZFHX3 in epilepsy. 29718741 2019
Entrez Id: 10614
Gene Symbol: HEXIM1
HEXIM1
0.010 GeneticVariation phenotype BEFREE We report a boy with global developmental delay and seizures carrying the de novo MEPCE nonsense variant c.1552 C > T/p.(Arg518*). mRNA and protein analyses identified nonsense-mediated mRNA decay to underlie the decreased amount of MEPCE in patient fibroblasts followed by LARP7 and 7SK snRNA downregulation and HEXIM1 upregulation. 31467394 2019
Entrez Id: 407040
Gene Symbol: MIR34A
MIR34A
0.010 Biomarker phenotype BEFREE However, whether miRNA-34a participates in neuronal apoptosis after seizures remain unclear. 30877521 2019
Entrez Id: 10344
Gene Symbol: CCL26
CCL26
0.010 Biomarker phenotype BEFREE Unlike pan-neuronal knockout mice, both interneuron-specific Tsc-1 knockout mice did not develop spontaneous seizures and grew into adults. 30683131 2019
Entrez Id: 55974
Gene Symbol: SLC50A1
SLC50A1
0.010 Biomarker phenotype BEFREE When administered at seizure onset, PCH, and SCP were both effective at terminating seizure activity against all NAs, with ED<sub>50</sub> values for SCP generally being lower. 30558458 2019
Entrez Id: 2016
Gene Symbol: EMX1
EMX1
0.010 GeneticVariation phenotype BEFREE Restriction of p.Arg1872Trp expression to excitatory neurons using Emx1-Cre recapitulated seizures and juvenile lethality between 1 and 2 months of age. 30601941 2019
Entrez Id: 79143
Gene Symbol: MBOAT7
MBOAT7
0.010 GeneticVariation phenotype BEFREE MBOAT7 gene pathogenic variants are a newly discovered and rare cause for intellectual disability, autism spectrum disorder (ASD), seizures, truncal hypotonia, appendicular hypertonia, and below average head sizes (ranging from -1 to -3 standard deviations). 31282596 2019
Entrez Id: 24141
Gene Symbol: LAMP5
LAMP5
0.010 AlteredExpression phenotype BEFREE MPMT-OX increased seizure resistance and assisted in the recovery of locomotor activity in worms with deletions in the genes unc-46, which regulates the transport of GABA into vesicles, and unc-49, which encodes the GABA<sub>A</sub> receptor. 31415799 2019
Entrez Id: 171221
Gene Symbol: DNAJB1P1
DNAJB1P1
0.010 Biomarker phenotype BEFREE Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures. 30972502 2019