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MeSH Review


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Disease relevance of Epilepsy


Psychiatry related information on Epilepsy


High impact information on Epilepsy


Chemical compound and disease context of Epilepsy

  • The modulation of GABAergic inhibition by NMDA receptors may cause the synaptic plasticity which underlies the kindling model of epilepsy [15].
  • Patterns of human local cerebral glucose metabolism during epileptic seizures [16].
  • PAR bZip-deficient mice show decreased brain levels of PLP, serotonin, and dopamine, and such changes have previously been reported to cause epilepsies in other systems [17].
  • These measurements were made in serum samples diluted 1:5 with either identical serum or phospate buffer, pH 7.4, and in serum samples from patients with seizure disorders who were treated with phenytoin or carbamazepine [18].
  • Grand mal epileptic seizures during ciprofloxacin therapy [19].
  • The Global Campaign against Epilepsy is leading the way towards universal acceptability of epilepsy and access to medical care [20].
  • Because these tracers are not widely available and the superiority of studying these receptor systems over glucose metabolism in the presurgical evaluation of patients with refractory epilepsy remains to be proven, their use in clinical practice is limited at the moment [21].

Biological context of Epilepsy


Anatomical context of Epilepsy


Gene context of Epilepsy

  • Here we show that convulsions mimicking epilepsy can be induced by a mutation in a C. elegans lis-1 allele (pnm-1), in combination with a chemical antagonist of gamma-aminobutyric acid (GABA) neurotransmitter signaling [32].
  • Since VPA is a drug highly successfully used in long-term epilepsy therapy, our findings open the exciting perspective for a first causal therapy of an inherited disease by elevating the SMN2 transcription level and restoring its correct splicing [33].
  • In particular Otx1 null mice are viable and show spontaneous epileptic seizures and abnormalities affecting the dorsal telencephalic cortex [34].
  • The fatal seizure disorder in Pcmt1-/- mice can be mitigated but not eliminated by antiepileptic drugs [24].
  • In addition, identification of OPHN1 as a further gene associated with epileptic seizures will help to unravel aetiologic factors of epilepsy [35].

Analytical, diagnostic and therapeutic context of Epilepsy


  1. A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Charlier, C., Singh, N.A., Ryan, S.G., Lewis, T.B., Reus, B.E., Leach, R.J., Leppert, M. Nat. Genet. (1998) [Pubmed]
  2. The sequelae of Haemophilus influenzae meningitis in school-age children. Taylor, H.G., Mills, E.L., Ciampi, A., du Berger, R., Watters, G.V., Gold, R., MacDonald, N., Michaels, R.H. N. Engl. J. Med. (1990) [Pubmed]
  3. Cloning of cDNA for the glutamate-binding subunit of an NMDA receptor complex. Kumar, K.N., Tilakaratne, N., Johnson, P.S., Allen, A.E., Michaelis, E.K. Nature (1991) [Pubmed]
  4. Aplastic anemia and agranulocytosis in patients using methazolamide for glaucoma. Werblin, T.P., Pollack, I.P., Liss, R.A. JAMA (1979) [Pubmed]
  5. Localization of a gene for benign adult familial myoclonic epilepsy to chromosome 8q23.3-q24.1. Mikami, M., Yasuda, T., Terao, A., Nakamura, M., Ueno, S., Tanabe, H., Tanaka, T., Onuma, T., Goto, Y., Kaneko, S., Sano, A. Am. J. Hum. Genet. (1999) [Pubmed]
  6. Dissociative states and epilepsy. Devinsky, O., Putnam, F., Grafman, J., Bromfield, E., Theodore, W.H. Neurology (1989) [Pubmed]
  7. Pharmacological prophylaxis in the kindling model of epilepsy. Wada, J.A. Arch. Neurol. (1977) [Pubmed]
  8. Effect of genetically caused excess of brain gamma-hydroxybutyric acid and GABA on sleep. Arnulf, I., Konofal, E., Gibson, K.M., Rabier, D., Beauvais, P., Derenne, J.P., Philippe, A. Sleep. (2005) [Pubmed]
  9. Stress impairs alpha(1A) adrenoceptor-mediated noradrenergic facilitation of GABAergic transmission in the basolateral amygdala. Braga, M.F., Aroniadou-Anderjaska, V., Manion, S.T., Hough, C.J., Li, H. Neuropsychopharmacology (2004) [Pubmed]
  10. An open trial of divalproex sodium in autism spectrum disorders. Hollander, E., Dolgoff-Kaspar, R., Cartwright, C., Rawitt, R., Novotny, S. The Journal of clinical psychiatry. (2001) [Pubmed]
  11. Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Kalachikov, S., Evgrafov, O., Ross, B., Winawer, M., Barker-Cummings, C., Martinelli Boneschi, F., Choi, C., Morozov, P., Das, K., Teplitskaya, E., Yu, A., Cayanis, E., Penchaszadeh, G., Kottmann, A.H., Pedley, T.A., Hauser, W.A., Ottman, R., Gilliam, T.C. Nat. Genet. (2002) [Pubmed]
  12. Amino-terminal phosphorylation of c-Jun regulates stress-induced apoptosis and cellular proliferation. Behrens, A., Sibilia, M., Wagner, E.F. Nat. Genet. (1999) [Pubmed]
  13. Ataxia and epileptic seizures in mice lacking type 1 inositol 1,4,5-trisphosphate receptor. Matsumoto, M., Nakagawa, T., Inoue, T., Nagata, E., Tanaka, K., Takano, H., Minowa, O., Kuno, J., Sakakibara, S., Yamada, M., Yoneshima, H., Miyawaki, A., Fukuuchi, Y., Furuichi, T., Okano, H., Mikoshiba, K., Noda, T. Nature (1996) [Pubmed]
  14. Long-term potentiation of NMDA receptor-mediated synaptic transmission in the hippocampus. Bashir, Z.I., Alford, S., Davies, S.N., Randall, A.D., Collingridge, G.L. Nature (1991) [Pubmed]
  15. Activation of NMDA receptors blocks GABAergic inhibition in an in vitro model of epilepsy. Stelzer, A., Slater, N.T., ten Bruggencate, G. Nature (1987) [Pubmed]
  16. Patterns of human local cerebral glucose metabolism during epileptic seizures. Engel, J., Kuhl, D.E., Phelps, M.E. Science (1982) [Pubmed]
  17. The loss of circadian PAR bZip transcription factors results in epilepsy. Gachon, F., Fonjallaz, P., Damiola, F., Gos, P., Kodama, T., Zakany, J., Duboule, D., Petit, B., Tafti, M., Schibler, U. Genes Dev. (2004) [Pubmed]
  18. Normal serum free thyroid hormone concentrations in patients treated with phenytoin or carbamazepine. A paradox resolved. Surks, M.I., DeFesi, C.R. JAMA (1996) [Pubmed]
  19. Grand mal epileptic seizures during ciprofloxacin therapy. Slavich, I.L., Gleffe, R.F., Haas, E.J. JAMA (1989) [Pubmed]
  20. Progress in epilepsy: reducing the treatment gap and the promise of biomarkers. Engel, J. Curr. Opin. Neurol. (2008) [Pubmed]
  21. Neuronuclear assessment of patients with epilepsy. Goffin, K., Dedeurwaerdere, S., Van Laere, K., Van Paesschen, W. Semin. Nucl. Med (2008) [Pubmed]
  22. Magnetic motor-evoked potentials in epilepsy: effects of the disease and of anticonvulsant medication. Hufnagel, A., Elger, C.E., Marx, W., Ising, A. Ann. Neurol. (1990) [Pubmed]
  23. Mitochondrial complex I deficiency in the epileptic focus of patients with temporal lobe epilepsy. Kunz, W.S., Kudin, A.P., Vielhaber, S., Blümcke, I., Zuschratter, W., Schramm, J., Beck, H., Elger, C.E. Ann. Neurol. (2000) [Pubmed]
  24. Phenotypic analysis of seizure-prone mice lacking L-isoaspartate (D-aspartate) O-methyltransferase. Kim, E., Lowenson, J.D., Clarke, S., Young, S.G. J. Biol. Chem. (1999) [Pubmed]
  25. Neurochondrin negatively regulates CaMKII phosphorylation, and nervous system-specific gene disruption results in epileptic seizure. Dateki, M., Horii, T., Kasuya, Y., Mochizuki, R., Nagao, Y., Ishida, J., Sugiyama, F., Tanimoto, K., Yagami, K., Imai, H., Fukamizu, A. J. Biol. Chem. (2005) [Pubmed]
  26. Reciprocal up- and down-regulation of BDNF mRNA in tetanus toxin-induced epileptic focus and inhibitory surround in cerebral cortex. Liang, F., Le, L.D., Jones, E.G. Cereb. Cortex (1998) [Pubmed]
  27. Deficit of quantal release of GABA in experimental models of temporal lobe epilepsy. Hirsch, J.C., Agassandian, C., Merchán-Pérez, A., Ben-Ari, Y., DeFelipe, J., Esclapez, M., Bernard, C. Nat. Neurosci. (1999) [Pubmed]
  28. Rundown of GABA type A receptors is a dysfunction associated with human drug-resistant mesial temporal lobe epilepsy. Ragozzino, D., Palma, E., Di Angelantonio, S., Amici, M., Mascia, A., Arcella, A., Giangaspero, F., Cantore, G., Di Gennaro, G., Manfredi, M., Esposito, V., Quarato, P.P., Miledi, R., Eusebi, F. Proc. Natl. Acad. Sci. U.S.A. (2005) [Pubmed]
  29. The cellular localization of the L-ornithine decarboxylase/polyamine system in normal and diseased central nervous systems. Bernstein, H.G., Müller, M. Prog. Neurobiol. (1999) [Pubmed]
  30. Properties of NMDA receptor channels in neurons acutely isolated from epileptic (kindled) rats. Köhr, G., De Koninck, Y., Mody, I. J. Neurosci. (1993) [Pubmed]
  31. Distribution of glutamate transporters in the hippocampus of patients with pharmaco-resistant temporal lobe epilepsy. Proper, E.A., Hoogland, G., Kappen, S.M., Jansen, G.H., Rensen, M.G., Schrama, L.H., van Veelen, C.W., van Rijen, P.C., van Nieuwenhuizen, O., Gispen, W.H., de Graan, P.N. Brain (2002) [Pubmed]
  32. Epileptic-like convulsions associated with LIS-1 in the cytoskeletal control of neurotransmitter signaling in Caenorhabditis elegans. Williams, S.N., Locke, C.J., Braden, A.L., Caldwell, K.A., Caldwell, G.A. Hum. Mol. Genet. (2004) [Pubmed]
  33. Valproic acid increases the SMN2 protein level: a well-known drug as a potential therapy for spinal muscular atrophy. Brichta, L., Hofmann, Y., Hahnen, E., Siebzehnrubl, F.A., Raschke, H., Blumcke, I., Eyupoglu, I.Y., Wirth, B. Hum. Mol. Genet. (2003) [Pubmed]
  34. Visceral endoderm-restricted translation of Otx1 mediates recovery of Otx2 requirements for specification of anterior neural plate and normal gastrulation. Acampora, D., Avantaggiato, V., Tuorto, F., Briata, P., Corte, G., Simeone, A. Development (1998) [Pubmed]
  35. Oligophrenin 1 (OPHN1) gene mutation causes syndromic X-linked mental retardation with epilepsy, rostral ventricular enlargement and cerebellar hypoplasia. Bergmann, C., Zerres, K., Senderek, J., Rudnik-Schoneborn, S., Eggermann, T., Häusler, M., Mull, M., Ramaekers, V.T. Brain (2003) [Pubmed]
  36. Grafts of adenosine-releasing cells suppress seizures in kindling epilepsy. Huber, A., Padrun, V., Déglon, N., Aebischer, P., Möhler, H., Boison, D. Proc. Natl. Acad. Sci. U.S.A. (2001) [Pubmed]
  37. Epileptiform ictal discharges are prevented by periodic interictal spiking in the olfactory cortex. Librizzi, L., de Curtis, M. Ann. Neurol. (2003) [Pubmed]
  38. Comparison of ictal SPECT and interictal PET in the presurgical evaluation of temporal lobe epilepsy. Ho, S.S., Berkovic, S.F., Berlangieri, S.U., Newton, M.R., Egan, G.F., Tochon-Danguy, H.J., McKay, W.J. Ann. Neurol. (1995) [Pubmed]
  39. Preferential neuronal loss in layer III of the medial entorhinal cortex in rat models of temporal lobe epilepsy. Du, F., Eid, T., Lothman, E.W., Köhler, C., Schwarcz, R. J. Neurosci. (1995) [Pubmed]
  40. MRI-guided flumazenil- and FDG-PET in temporal lobe epilepsy. Szelies, B., Weber-Luxenburger, G., Pawlik, G., Kessler, J., Holthoff, V., Mielke, R., Herholz, K., Bauer, B., Wienhard, K., Heiss, W.D. Neuroimage (1996) [Pubmed]
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