Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8629
Gene Symbol: JRK
JRK
0.020 Biomarker disease BEFREE Disruption of the function of the mouse jerky gene by transgene insertion causes generalized recurrent seizures reminiscent of human idiopathic generalized epilepsy (IGE). 11463517 2001
Entrez Id: 6505
Gene Symbol: SLC1A1
SLC1A1
0.010 Biomarker disease BEFREE Upregulation of EAAT3/EAAC1 in hippocampal and neocortical epilepsy may be an important modulator of extracellular glutamate concentrations and may occur as a response to recurrent seizures in these cell types. 11906504 2002
Entrez Id: 8629
Gene Symbol: JRK
JRK
0.020 Biomarker disease BEFREE A deficit in the Jerky protein in mice causes recurrent seizures reminiscent of temporal lobe epilepsy. 12773553 2003
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.020 Biomarker disease BEFREE Like noncardiac organ phenotypes observed in other LQTS-susceptibility genes such as KCNQ1/deafness and SCN5A/gastrointestinal symptoms, this novel LQT2-epilepsy association raises the possibility that LQT2-causing perturbations in the KCNH2-encoded potassium channel may confer susceptibility for recurrent seizure activity. 19038855 2009
Entrez Id: 3757
Gene Symbol: KCNH2
KCNH2
0.010 GeneticVariation disease BEFREE Like noncardiac organ phenotypes observed in other LQTS-susceptibility genes such as KCNQ1/deafness and SCN5A/gastrointestinal symptoms, this novel LQT2-epilepsy association raises the possibility that LQT2-causing perturbations in the KCNH2-encoded potassium channel may confer susceptibility for recurrent seizure activity. 19038855 2009
Entrez Id: 1759
Gene Symbol: DNM1
DNM1
0.010 GeneticVariation disease BEFREE Mice heterozygous for a novel spontaneous Dnm1 mutation--fitful--experience recurrent seizures, and homozygotes have more debilitating, often lethal seizures in addition to severe ataxia and neurosensory deficits. 20700442 2010
Entrez Id: 132
Gene Symbol: ADK
ADK
0.010 AlteredExpression disease BEFREE We demonstrate in wild-type mice that viral overexpression of ADK within astrocytes is sufficient to trigger spontaneous recurrent seizures in the absence of any other epileptogenic event, whereas ADK downregulation via AAV8-mediated RNA interference almost completely abolished spontaneous recurrent seizures in Adk-tg mice. 21275977 2011
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.010 GeneticVariation disease BEFREE From the data in GS, CT and TT genotype carriers of the MDR1 gene and TT genotype carriers of the GABRG2 gene had more recurrent seizures compared with others. 22239287 2012
Entrez Id: 4780
Gene Symbol: NFE2L2
NFE2L2
0.010 AlteredExpression disease BEFREE Human Nrf2 was overexpressed via an adeno-associated virus (AAV) vector after the onset of spontaneous recurrent seizures (SRS) in the animals. 23686862 2013
Entrez Id: 6571
Gene Symbol: SLC18A2
SLC18A2
0.010 Biomarker disease BEFREE And that VMAT2 protein transiently increased in acute stages (1 day and 3 days) after epileptic seizures in pilocarpine-treated rats; however, it clearly decreased after spontaneous recurrent seizures (7 days, 21 days, and 60 days after seizures). 23504951 2013
Entrez Id: 6331
Gene Symbol: SCN5A
SCN5A
0.010 GeneticVariation disease BEFREE This observation confirms the possibility that SCN5A mutations may confer susceptibility for recurrent seizure activity, supporting the emerging concept of a genetically determined cardiocerebral channelopathy. 23538271 2013
Entrez Id: 3553
Gene Symbol: IL1B
IL1B
0.020 Biomarker disease BEFREE In addition, 30 min after intrahippocampal injection of 4-aminopyridine, IL-1β increased the incidence of SE, while IL-1RA prolonged the intervals between recurrent seizures. 26096304 2015
Entrez Id: 3784
Gene Symbol: KCNQ1
KCNQ1
0.020 GeneticVariation disease BEFREE We report, for a first time, a KCNQ1 mutation in a family suffering of both phenotypes, suggesting that KCNQ1 genetic variations may confer susceptibility for recurrent seizure activity increasing the risk or lead to sudden death. 25645639 2015
Entrez Id: 5293
Gene Symbol: PIK3CD
PIK3CD
0.010 Biomarker disease BEFREE The differential expression of multiple genes in the PI3K-AKT signaling pathway in type II focal cortical dysplasia may be an important molecular mechanism underlying histological changes and recurrent seizures. 26345935 2015
Entrez Id: 5290
Gene Symbol: PIK3CA
PIK3CA
0.010 Biomarker disease BEFREE The differential expression of multiple genes in the PI3K-AKT signaling pathway in type II focal cortical dysplasia may be an important molecular mechanism underlying histological changes and recurrent seizures. 26345935 2015
Entrez Id: 3557
Gene Symbol: IL1RN
IL1RN
0.010 Biomarker disease BEFREE In addition, 30 min after intrahippocampal injection of 4-aminopyridine, IL-1β increased the incidence of SE, while IL-1RA prolonged the intervals between recurrent seizures. 26096304 2015
Entrez Id: 5291
Gene Symbol: PIK3CB
PIK3CB
0.010 Biomarker disease BEFREE The differential expression of multiple genes in the PI3K-AKT signaling pathway in type II focal cortical dysplasia may be an important molecular mechanism underlying histological changes and recurrent seizures. 26345935 2015
Entrez Id: 5294
Gene Symbol: PIK3CG
PIK3CG
0.010 Biomarker disease BEFREE The differential expression of multiple genes in the PI3K-AKT signaling pathway in type II focal cortical dysplasia may be an important molecular mechanism underlying histological changes and recurrent seizures. 26345935 2015
Entrez Id: 2554
Gene Symbol: GABRA1
GABRA1
0.010 GeneticVariation disease BEFREE Diplotype analysis of GABRA1 variants revealed association of rs12658835;rs7735530 (AG/AG) (P-valuecorrected  = 0.034, OR = 3.75, 95% CI = 1.36-11.05) and rs12658835;rs7735530;rs7732641;rs2279020 (AGCA/AGCA) (P-valuecorrected  = 0.035, OR = 2.48, 95% CI = 0.96-6.41) with recurrent seizures. 27245092 2016
Entrez Id: 5816
Gene Symbol: PVALB
PVALB
0.020 Biomarker disease BEFREE The present experiments demonstrate that specific and sustained inhibition of GABA release from parvalbumin-expressing interneurons (mostly basket cells) in sector CA1/subiculum is sufficient to induce hyperexcitability and spontaneous recurrent seizures in mice. 28733354 2017
Entrez Id: 5816
Gene Symbol: PVALB
PVALB
0.020 Biomarker disease BEFREE Rats were subjected to lithium-pilocarpine TLE model and the main features were evaluated over a chronic period including: (a) spontaneous recurrent seizures (SRS), (b) neuronal loss, and (c) PV cell density in different regions of the hippocampus (CA1, CA3, DG and Hilus). 28841161 2017
Entrez Id: 729230
Gene Symbol: CCR2
CCR2
0.010 Biomarker disease BEFREE Two weeks after KA-induced seizures, CCR2 deficiency not only reduced neuronal loss, but also attenuated seizure-induced behavioral impairments, including anxiety, memory decline, and recurrent seizure severity. 28716963 2017
Entrez Id: 6323
Gene Symbol: SCN1A
SCN1A
0.010 GeneticVariation disease BEFREE Abnormal expressions of sodium channel SCN1A and SCN3A genes alter neural excitability that are believed to contribute to the pathogenesis of epilepsy, a long-term risk of recurrent seizures. 27816501 2017
Entrez Id: 78999
Gene Symbol: LRFN4
LRFN4
0.010 Biomarker disease BEFREE Inhibition of SALM3 by SALM3 shRNA inhibited status epilepticus in the acute stage of disease and decreased spontaneous recurrent seizures in the Lithium-pilocarpine model of chronic stages of epilepsy. 28222338 2017
Entrez Id: 6328
Gene Symbol: SCN3A
SCN3A
0.010 GeneticVariation disease BEFREE Abnormal expressions of sodium channel SCN1A and SCN3A genes alter neural excitability that are believed to contribute to the pathogenesis of epilepsy, a long-term risk of recurrent seizures. 27816501 2017