Epileptogenesis in idiopathic epilepsy

The Causes of Epilepsy: Common and Uncommon Causes in Adults and Children

Volumn , Issue , 2011, Pages 24-34

  Maljevic, Snezana ^a   Lerche, Holger ^a  

^a UNIVERSITY OF ULM   (Germany)

Author keywords

[No Author keywords available]

Indexed keywords

EID: 84927068151     PISSN: None     EISSN: None     Source Type: Book    
DOI: 10.1017/CBO9780511921001.005     Document Type: Chapter

References (66)

1. Aridon P, Marini C, Di Resta C, et al. (2006) Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet 79:342-50.
2. Baulac S, Huberfeld G, Gourfinkel-An I, et al. (2001) First genetic evidence of GABA(A) receptor dysfunction in epilepsy: A mutation in the gamma2-subunit gene. Nat Genet 28:46-8.
3. Bernard C, Anderson A, Becker A, et al. (2004) Acquired dendritic channelopathy in temporal lobe epilepsy. Science 305:532-5.
4. Bertrand D, Picard F, Le Hellard S, et al. (2002) How mutations in the nAChRs can cause ADNFLE epilepsy. Epilepsia 43:112-22.
5. Biel M, Wahl-Schott C, Michalakis S, Zong X (2009) Hyperpolarization-activated cation channels: From genes to function. Physiol Rev 89:847-85.
6. Biervert C, Schroeder BC, Kubisch C, et al. (1998) A potassium channel mutation in neonatal human epilepsy. Science 279:403-6.
7. Budde T, Caputi L, Kanyshkova T, et al. (2005) Impaired regulation of thalamic pacemaker channels through an imbalance of subunit expression in absence epilepsy. J Neurosci 25:9871-82.
8. Burgess DL, Noebels JL (2000) Calcium channel defects in models of inherited generalized epilepsy. Epilepsia 41:1074-5.
9. Charlier C, Singh NA, Ryan SG, et al. (1998) A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 18:53-5.
10. Chen Y, Lu J, Pan H, et al. (2003) Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol 54:239-43.
11. Claes L, Del-Favero J, Ceulemans B, et al. (2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68:1327-32.
12. Cossette P, Liu L, Brisebois K, et al. (2002) Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 31:184-9.
13. Danober L, Deransart C, Depaulis A, Vergnes M, Marescaux C (1998) Pathophysiological mechanisms of genetic absence epilepsy in the rat. Progr Neurobiol 55:27-57.
14. De Fusco M, Becchetti A, Patrignani A, et al. (2000) The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 26:275-6.
15. De Vivo DC, Trifiletti RR, Jacobson RI, et al. (1991) Defective glucose transport across the blood-brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med 325:703-9.
16. Delmas P, Brown DA (2005) Pathways modulating neural KCNQ/M (Kv7) potassium channels. Nat Rev Neurosci 6:850-62.
17. Dibbens LM, Feng HJ, Richards MC, et al. (2004) GABRD encoding a protein for extra-or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet 13:1315-19.
18. Ernst WL, Zhang Y, Yoo JW, Ernst SJ, Noebels JL (2009) Genetic enhancement of thalamocortical network activity by elevating alpha 1g-mediated low-voltageactivated calcium current induces pure absence epilepsy. J Neurosci 29:1615-25.
19. Escayg A, MacDonald BT, Meisler MH, et al. (2000a) Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFSþ2. Nat Genet 24:343-5.
20. Escayg AP, De Waard M, Lee DD, et al. (2000b) Coding and noncoding variation of the human calcium-channel β4-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 66:1531-9.
21. Fonck C, Nashmi R, Deshpande P, et al. (2003) Increased sensitivity to agonistinduced seizures, straub tail, and hippocampal theta rhythm in knock-in mice carrying hypersensitive alpha 4 nicotinic receptors. J Neurosci 23:2582-90.
22. George AL Jr. (2005) Inherited disorders of voltage-gated sodium channels. J Clin Invest 115:1990-9.
23. Hauser WA, Annegers JF, Rocca WA (1996) Descriptive epidemiology of epilepsy: Contributions of population-based studies from Rochester, Minnesota. Mayo Clin Proc 71: 576-86.
24. Helbig I, Mefford HC, Sharp AJ, et al. (2009) 15q13.3 microdeletions increase risk of idiopathic generalized epilepsy. Nat Genet 41:160-2.
25. Heron SE, Crossland KM, Andermann E, et al. (2002) Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 360:851-2.
26. Heron SE, Khosravani H, Varela D, et al. (2007) Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Ann Neurol 62:560-8.
27. Hogg RC, Raggenbass M, Bertrand D (2003) Nicotinic acetylcholine receptors: From structure to brain function. Rev Physiol Biochem Pharmacol 147:1-46.
28. Imbrici P, Jaffe SL, Eunson LH, et al. (2004) Dysfunction of the brain calcium channel Cav2.1 in absence epilepsy and episodic ataxia. Brain 127:2682-92.
29. Jentsch TJ (2000) Neuronal KCNQ potassium channels: Physiology and role in disease. Nat Rev Neurosci 1:21-30.
30. Jouvenceau A, Eunson LH, Spauschus A, et al. (2001) Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet 358:801-7.
31. Kim D, Song I, Keum S, et al. (2001) Lack of the burst firing of thalamocortical relay neurons and resistance to absence seizures in mice lacking alpha1G T-type Ca(2þ)channels. Neuron 31:35-45.
32. Krampfl K, Maljevic S, Cossette P, et al. (2005) Molecular analysis of the A322D mutation in the GABA receptor alpha-subunit causing juvenile myoclonic epilepsy. Eur J Neurosci 22:10-20.
33. Lerche H, Weber YG, Jurkat-Rott K, Lehmann-Horn F (2005) Ion channel defects in idiopathic epilepsies. Curr Pharm Des 11(21):2737-52.
34. Liao Y, Deprez L, Maljevic S, et al. (2010a) Molecular correlates of age-dependent seizures in an inherited neonatal-infantile epilepsy. Brain 133:1403-14.
35. Liao Y, Anttonen AK, Liukkonen E, et al. (2010b) SCN2A mutation associated with neonatal epilepsy, late-onset episodic ataxia myoclonus, and pain. Neurology 75:1454-8.
36. Ludwig A, Budde T, Stieber J, et al. (2003) Absence epilepsy and sinus dysrhythmia in mice lacking the pacemaker channel HCN2. EMBO J 22:216-24.
37. Maljevic S, Wuttke TV, Lerche H (2008) Nervous system Kv7 disorders: Breakdown of a subthreshold brake. J Physiol 586:1791-801.
38. Meeren H, van Luijtelaar G, Lopes da Silva F, Coenen A (2005) Evolving concepts on the pathophysiology of absence seizures: The cortical focus theory. Arch Neurol 62:371-6.
39. Mehta AK, Ticku MK (1999) An update on GABAA receptors. Brain Res Brain Res Rev 29:196-217.
40. Ogiwara I, Miyamoto H, Morita N, et al. (2007) Nav1.1 localizes to axons of parvalbumin-positive inhibitory interneurons: A circuit basis for epileptic seizures in mice carrying an SCN1A gene mutation. J Neurosci 27:5903-14.
41. Phillips HA, Favre I, Kirkpatrick M, et al. (2001) CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet 68:225-31.
42. Reid CA, Berkovic SF, Petrou S (2009) Mechanisms of human inherited epilepsies. Progr Neurobiol 87:41-57.
43. Roulet-Perez E, Ballhausen D, Bonafé L, Cronel-Ohayon S, Maeder-Ingvar M (2008) Glut-1 deficiency syndrome masquerading as idiopathic generalized epilepsy. Epilepsia 49:1955-8.
44. Rundfeldt C, Netzer R (2000) The novel anticonvulsant retigabine activates M-currents in Chinese hamster ovary cells tranfected with human KCNQ2/3 subunits. Neurosci Lett 282:73-6.
45. Saint-Martin C, Gauvain G, Teodorescu G, et al. (2009). Two novel CLCN2 mutations accelerating chloride channel deactivation are associated with idiopathic generalized epilepsy. Hum Mutat 30:397-405.
46. Schenzer A, Friedrich T, Pusch M, et al. (2005) Molecular determinants of KCNQ (Kv7) Kþ channel sensitivity to the anticonvulsant retigabine. J Neurosci 25:5051-60.
47. Schroeder BC, Kubisch C, Stein V, Jentsch TJ (1998) Moderate loss of function of cyclic-AMP-modulated KCNQ2/KCNQ3 Kþ channels causes epilepsy. Nature 396:687-90.
48. Sieghart W, Fuchs K, Tretter V, et al. (1999) Structure and subunit composition of GABA(A) receptors. Neurochem Int 34:379-85.
49. Sík A, Smith RL, Freund TF (2000) Distribution of chloride channel-2-immunoreactive neuronal and astrocytic processes in the hippocampus. Neuroscience 101:51-65.
50. Singh NA, Charlier C, Stauffer D, et al. (1998) A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 18:25-9.
51. Singh NA, Otto JF, Dahle EJ, et al. (2008) Mouse models of human KCNQ2 and KCNQ3 mutations for benign familial neonatal convulsions show seizures and neuronal plasticity without synaptic reorganization. J Physiol 586:3405-23.
52. Song I, Kim D, Choi S, et al. (2004) Role of the alpha1G T-type calcium channel in spontaneous absence seizures in mutant mice. J Neurosci 24:5249-57.
53. Staley KJ, Smith R, Schaack J, Wilcox C, Jentsch TJ (1996) Alteration of GABAA receptor function following gene transfer of the ClC-2 chloride channel. Neuron 17:543-51.
54. Steinlein OK (2004) Genetic mechanisms that underlie epilepsy. Nat Rev Neurosci 5:400-8.
55. Steinlein OK, Mulley JC, Propping P, et al. (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 11:201-3.
56. Suls A, Dedeken P, Goffin K, et al. (2008) Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter GLUT1. Brain 131:1831-44.
57. Suls A, Mullen SA, Weber YG, et al. (2009) Early onset absence epilepsy due to mutations in the glucose transporter GLUT1. Ann Neurol 66:415-19.
58. Tan HO, Reid CA, Single FN, et al. (2007) Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy. Proc Natl Acad Sci USA 104:17 536-41.
59. Tsakiridou E, Bertollini L, de Curtis M, Avanzini G, Pape HC (1995) Selective increase in T-type calcium conductance of reticular thalamic neurons in a rat model of absence epilepsy. J Neurosci 15:3110-17.
60. Vacher H, Mohapatra DP, Trimmer JS (2008) Localization and targeting of voltage-dependent ion channels in mammalian central neurons. Physiol Rev 88:1407-47.
61. Vitko I, Chen Y, Arias JM, et al. (2005) Functional characterization and neuronal modeling of the effects of childhood absence epilepsy variants of CACNA1H, a T-type calcium channel. J Neurosci 25:4844-55.
62. Wallace RH, Wang DW, Singh R, et al. (1998) Febrile seizures and generalized epilepsy associated with a mutation in the Naþ-channel beta1 subunit gene SCN1B. Nat Genet 19:366-70.
63. Wallace RH, Marini C, Petrou S, et al. (2001) Mutant GABA(A) receptor gamma2-subunit in childhood absence epilepsy and febrile seizures. Nat Genet 28:49-52.
64. Weber YG, Storch A, Wuttke TV, et al. (2008) GLUT1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest 118:2157-68.
65. Wuttke TV, Seebohm G, Bail S, Maljevic S, Lerche H (2005) The new anticonvulsant retigabine favors voltage-dependent opening of the Kv7.2 (KCNQ2) channel by binding to its activation gate. Mol Pharmacol 67:1009-17.
66. Yu FH, Mantegazza M, Westenbroek RE, et al. (2006) Reduced sodium current in GABAergic interneurons in a mouse model of severe myoclonic epilepsy in infancy. Nat Neurosci 9:1142-9.