Human | RTN4 | 57142 | reticulon 4 | In temporal lobe epilepsy Nogo-A mRNA and immunoreactivity were markedly up-regulated in most neurons and their processes throughout the hippocampal formation |
Human | ACOT7 | 11332 | acyl-CoA thioesterase 7 | BACH was deranged in hippocampus of mesial temporal lobe epilepsy patients |
Human | GABBR2 | 9568 | gamma-aminobutyric acid (GABA) B receptor, 2 | Increased expression of GABA(B) receptor subtype 2 indicates augmented presynaptic inhibition of glutamate release as a possible protective mechanism in temporal lobe epilepsy |
Human | LGI1 | 9211 | leucine-rich, glioma inactivated 1 | In temporal lobe epilepsy, mutations in LGI1 are specific for autosomal dominant partial epilepsy with auditory features {ADPEAF} but do not occur in all families; ADPEAF is genetically heterogeneous |
Human | TP53 | 7157 | tumor protein p53 | Immunohistochemistry localized elevated p53 to a mainly nuclear distribution in neurons and glia in sections from temporal lobe epilepsy hippocampus |
Human | SSTR2 | 6752 | somatostatin receptor 2 | In the temporal lobe epilepsy, dentate gyrus, sst2 receptor mRNA expression was strongly increased in the granule cell layer, sst2 receptor-binding sites and immunoreactivity was preserved in the inner but decreased in the outer molecular layer |
Human | SLC1A2 | 6506 | solute carrier family 1 (glial high affinity glutamate transporter), member 2 | Presence of alternative EAAT2 mRNA transcripts is not disease specific, nor the primary cause of reduced EAAT2 expression in hippocampal sclerosis-associated temporal lobe epilepsy patients |
Human | SCN1A | 6323 | sodium channel, voltage-gated, type I, alpha subunit | findings illustrate that SCN1A mutations can cause simple febrile seizures associated with temporal lobe epilepsy, which differ from the characteristic clinical spectrum of generalized epilepsy with febrile seizures plus |
Human | PTGS2 | 5743 | prostaglandin-endoperoxide synthase 2 (prostaglandin G/H synthase and cyclooxygenase) | induction of astrocytic COX-2 is implicated in the pathogenesis of hippocampal sclerosis in temporal lobe epilepsy and is consistent with the previous findings of increased concentrations of prostaglandins in the cerebrospinal fluid of these patients |
Human | RELN | 5649 | reelin | Decreased expression of reelin mRNA by hippocampal Cajal-Retzius cells correlates with the extent of migration defects in the dentate gyrus of patients with temporal lobe epilepsy |
Human | PRNP | 5621 | prion protein | This is the first publication of data that support the hypothesis that the common methionine/valine polymorphism at codon 129 of the PRNP gene may modify the susceptibility of women to mild temporal lobe epilepsy the presence of Prnp variant alleles was found not to be significantly associated to cognitive performance of patients with mesial temporal lobe epilepsy with hippocampal sclerosis the M129V polymorphism in the PRNP gene is not associated with mesial temporal lobe epilepsy in a Han Chinese population |
Human | PDYN | 5173 | prodynorphin | functional allelic variants in the PDYN promoter might modify the risk to develop temporal lobe epilepsy in subjects with familial predisposition |
Human | NOS1 | 4842 | nitric oxide synthase 1 (neuronal) | Nitric oxide participates in the phosphorylation of eIF2alpha since nNOS processes are closely related to eIF2alpha(P) positive cells in temporal lobe epilepsy with hippocampal sclerosis |
Human | MDM2 | 4193 | MDM2 oncogene, E3 ubiquitin protein ligase | MDM2 levels were significantly lower in temporal lobe epilepsy patient brains |
Human | IL1B | 3553 | interleukin 1, beta | Present data from a Chinese population fail to show a strong association of the variation at position -511 of the IL-1 beta gene promoter region in temporal lobe epilepsy patients with hippocampal sclerosis Title:Association analysis of a polymorphism of interleukin 1 beta (IL-1 beta) gene with temporal lobe epilepsy in a Chinese population.|Association:Not Found|Conclusion:In contrast with the lower frequency in the white population (35 and 34%) and higher rate in the population of African ancestry (60%), the allele -511T frequency in our present study is approximately 50%, indicating differences in the distribution of allele frequencies in IL-1 beta-511 among different ethnic groups. In this Chinese population, however, we still did not find a strong association between IL-1 beta-511 polymorphism and the development of HS. There is a modest association between IL-1 beta-511T polymorphism and temporal lobe epilepsy with hippocampal sclerosis |
Human | HTR1A | 3350 | 5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled | Patients with severe mesial temporal lobe epilepsy show reduced 5-HT1A receptor binding potential in the EEG-focus, and its limbic connections |
Human | GRM1 | 2911 | glutamate receptor, metabotropic 1 | In patients with mesial temporal lobe epilepsy, mGluR1 may increase hippocampal excitability through postsynaptic activation |
Human | GRIA3 | 2892 | glutamate receptor, ionotropic, AMPA 3 | cell loss and up-regulation of glutamate receptor subunits appear early in temporal lobe epilepsy and contribute to the synaptic plasticity that may facilitate the subsequent sprouting of mossy fiber collaterals |
Human | GRIA2 | 2891 | glutamate receptor, ionotropic, AMPA 2 | cell loss and up-regulation of glutamate receptor subunits appear early in temporal lobe epilepsy and contribute to the synaptic plasticity that may facilitate the subsequent sprouting of mossy fiber collaterals |
Human | GRIA1 | 2890 | glutamate receptor, ionotropic, AMPA 1 | cell loss and up-regulation of glutamate receptor subunits appear early in temporal lobe epilepsy and contribute to the synaptic plasticity that may facilitate the subsequent sprouting of mossy fiber collaterals |
Human | GABRB3 | 2562 | gamma-aminobutyric acid (GABA) A receptor, beta 3 | This report indicates pronounced adaptive changes in the expression of these GABA(A) receptor subunits related to seizure activity and indicates altered assembly of GABA(A) receptors in temporal lobe epilepsy |
Human | GABBR1 | 2550 | gamma-aminobutyric acid (GABA) B receptor, 1 | Increased expression of GABA(B) receptor subtype 1 indicates augmented presynaptic inhibition of glutamate release as a possible protective mechanism in temporal lobe epilepsy Altered GABA(B1a) receptor mRNA expression occurs in human temporal lobe epilepsy; possibly the observed changes may also serve to counteract ongoing hyperexcitability Alterations in inhibitory synaptic transmission through GABA(B)R1 appears to affect differentially certain hippocampal circuits in a population of epileptic patients and could contribute to the pathophysiology of temporal lobe epilepsy Temporal lobe epilepsy preceded by febrile seizures is not associated with the polymorphisms or mutations in the GABBR1 gene |
Human | EIF2S1 | 1965 | eukaryotic translation initiation factor 2, subunit 1 alpha, 35kDa | Nitric oxide participates in the phosphorylation of eIF2alpha since nNOS processes are closely related to eIF2alpha(P) positive cells in temporal lobe epilepsy with hippocampal sclerosis |
Human | DPYSL2 | 1808 | dihydropyrimidinase-like 2 | significant decrease of crmp-2 protein may represent or underlie impaired neuronal plasticity, neurodegeneration, wiring of the brain in mesial temporal lobe epilepsy |
Human | DFFB | 1677 | DNA fragmentation factor, 40kDa, beta polypeptide (caspase-activated DNase) | levels of CAD were significantly higher in the nuclear fraction of temporal lobe epilepsy samples |