New vistas and views in the concept of generalized epilepsies

Ideggyogyaszati Szemle

Volumn 62, Issue 11-12, 2009, Pages 366-380

  Halász, Péter ^a   Kelemen, Anna ^b  

^a PÁZMÁNY PÉTER CATHOLIC UNIVERSITY   (Hungary)

^b NATIONAL INSTITUTE OF NEUROSURGERY   (Hungary)

Author keywords

Bilateral synchronous spike wave discharges; Classification of epilepsies; Epileptic networks; Idiopathic generalized epilepsy (IGE); Thalamo cortical system

Indexed keywords

BRAIN DEPTH STIMULATION; DISEASE CLASSIFICATION; ELECTROENCEPHALOGRAM; FUNCTIONAL ANATOMY; GENERALIZED EPILEPSY; HUMAN; IDIOPATHIC DISEASE; NEUROIMAGING; NONREM SLEEP; REVIEW; SEIZURE; SPIKE WAVE; THALAMOCORTICAL TRACT; ABSENCE; ANIMAL; BRAIN CORTEX; CLASSIFICATION; COGNITION; DIFFERENTIAL DIAGNOSIS; ELECTROENCEPHALOGRAPHY; FEBRILE CONVULSION; GENETICS; METABOLISM; PATHOLOGY; PATHOPHYSIOLOGY; SLEEP STAGE; THALAMUS; WAKEFULNESS;

4 AMINOBUTYRIC ACID RECEPTOR; ANTICONVULSIVE AGENT; CALCIUM CHANNEL T TYPE;

ANIMALS; ANTICONVULSANTS; CALCIUM CHANNELS, T-TYPE; CEREBRAL CORTEX; COGNITION; DIAGNOSIS, DIFFERENTIAL; ELECTROENCEPHALOGRAPHY; EPILEPSY, ABSENCE; EPILEPSY, GENERALIZED; HUMANS; RECEPTORS, GABA; SEIZURES, FEBRILE; SLEEP STAGES; THALAMUS; WAKEFULNESS;

EID: 76549132485     PISSN: 00191442     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Review

References (131)

1. Berger H. Über das Elektroenkephalogram des Menchen. Arch Psychiat Nervenkr 1933;100:301-20.
2. Gibbs FA, Davis H, Lennox WG. The electroencephalogram in epilepsy and in conditions of impaired consciousness. Arch Neurol Psychiat 1935;34:1133-48.
3. Jasper HH, Kershman J. Electroencephalographic classification of the epilepsies. Arch Neurol Psychiat 1941;145: 903-43.
4. Penfield, W, Jasper H. Epilepsy and the functional anatomy of thr brain. Boston: Little Brown; 1954.
5. Dempsey EW, Morison RS. The production of rhythmically recurrent cortical potentials after localized thalamic stimulation. Amer J Physiol 1942;135:293-300.
6. Lewy FM, Gammon GD. Influence of sensory systems on sponateneous activity of cerebral cortex. J Neurophysiol 1940;3:388-95.
7. Jasper HH, Droogleever-Fortuyn J. Experimental studies on the functional anatomy of petit mal epilepsy. Res Publ Assoc Nerv and Ment Dis 1947;26:272-98.
8. Hunter J, Jasper HH. Effects of thalamic stimulation in unanesthetized animals. (The arrest reaction and petit-mal like sizures, activation patterns and generalized convulsions.) Electroenceph Clin Neurophysiol 1949;1:305-32.
9. Guerrero-Figueroa R, Barros F, De Balbian Vester, Health RG. Experimental "petit-mal" in kittens. Arch Neurol 1963;9:297-306.
10. Pollen DA, Perot PH, Reid KH. Experimental bilateral wave and spike from thalamic stimulation in relation to level of arousal. Electroenceph Clin Neurophysiol 1963; 15:1017-28.
11. Bancaud JJ, Talairach A, Bonis G, Schaub G, Szikla P, Morel M, et al. La stereo-electroencephalographie dans l'epilepsie. Paris: Masson; 1965.
12. Proposal for classification of epilepsies and epileptic syndromes. Commission on classification and terminology of the international League Against Epilepsy. Epilepsia 1985; 26(3):268-78.
13. Steriade M, Deschênes M, Domich L, Mulle C: Abolition of spindle oscillations in thalamic neurons disconnected from nucleus reticularis thalami. J Neurophysiol 1985;54(6): 1473-97. (Pubitemid 16148985)
14. McCromick DA, Bal T. Sleep and arousal: thalamocortical mechanisms. Annu Rev Neurosci 1997;20:185-215.
15. Huguenard JR, McCromick DA. Thalamic synchrony and dynamic regulation of global forebrain oscillations. Trends in Neurosci 2007;7:350-56. (Pubitemid 46991122)
16. Saper CB, Chou TC, Scammell TE. The sleep switch: hypothalamic control of sleep and wakefulness. Trends Neurosci 2001;24(12):726-31. (Pubitemid 33097540)
17. Gloor P, Avoli M, Kostopoulos G. Thalamocortical relationships in generalized epilepsy with bilaterally synchronous spike-and-wave discharge. In:Avoli M, Gloor P, Kostopoulos G, Naquet R (eds.). Generalized epilepsy: neurobiological approaches. Boston: MA Birkhauser; 1990. p. 190-212.
18. Bal T, von Krosigk M, McCormick DA. Synaptic and membrane mechanisms underlying synchronized oscillations in the ferret LGN in vitro. J Physiol 1995;483.3:641-63.
19. Bal T, von Krosigk M, McCormick DA. Role of the ferret perigeniculate nucleus in the generation of synchronized oscillations in vitro. J Physiol 1995;483(3):665-85.
20. Huguenard JR, Prince DA. Intrathalamic rhythmicity studied in vitro, nominal T current modulation causes robust antioscillatory effects. J Neurosci 1994;14:5485-502. (Pubitemid 24279067)
21. Sanchez-Vives MV, Bal T, McCormick DA. Properties of GABAergic inhibition in the ferret LGNd contributing to the generation of synchronized oscillations. Soc Neurosci Abst 1995;21:11.
22. Gloor P, Fariello RG. Generalized epilepsy: some of its cellular mechanisms differ from those of focal epilepsy. Trends Neurosci 1988;11(2):63-8. (Pubitemid 18041673)
23. Banerjee PK, Snead OC. Thalamic NMDA receptors in the gamma-hydroxybutyrate model of absence seizures: a cerebral microinjection study in rats. Neuropharmacology 1995;34:43-53.
24. Micheletti G, Marescaux C, Vergnes M, Rumbach L, Warter JM. Effects of GABA-mimetics and GABA antagonists on spontaneous non-convulsive seizures in Wistar rats. In:Bartholini G, Bossi L, Lloyd KG, Morselli ML (eds.). Epilepsy and GABA receptor agonists. New York: Raven; 1985. p. 129-37.
25. Marescaux C, Vergnes M, Depaulis A. Genetic absence epilepsy in rats from Strasbourg: a review. Journal of Neural Transmission 1992;(Suppl)35:37-69.
26. Marescaux C, Vergnes M, Bernasconi R. GABAB receptor antagonists: potential new anti-absence drugs. Journal of Neural Transmission 1992b;(Suppl.)35:179-88.
27. Bowery N, Richards DA, Lemos T, Whitton PS. GABA transmission in absence epilepsy. In:Duncan JS, Panayiotopoulos CP (eds.). Typical absences and related epileptic sydromes. New York: Churchill Livingstone Int.; 1995. p. 51-8.
28. Coulter DA, Huguenard JR, Prince DA. Characterization of ethosuximide reduction of low-threshold calcium current in thalamic neurons. Annals of Neurology 1989;25: 582-93. (Pubitemid 19153866)
29. Coulter DA, Huguenard JR, Prince DA. Differencial effects of petit mal anticonvulsants and convulsants on thalamic neurons. I. Calcium current reduction. British Journal of Pharmacology 1990;100:800-6.
30. Stevens JR, Kodama H, Lonsbury B, Mills L. Ultradian characteristics of spontaneous seizure discharges recorded by radio telemetry in man. Electroencephalogr Clin Neurophysiol 1971;31:313-32.
31. Passouant P. Absence or petit mal. Clinical and physiopathological problems. Rev Esp Otoneuroophtalmol Neurocir 1971;29:11-28.
32. Janz D. Epilepsy and the sleeping-waking cycle. In:Vincken PJ, Bruyn GW (eds.). Handbook of clinical neurology, vol 15: The epilepsies. North Holland, Amsterdam, 1974. p. 457-90.
33. Li CL, Jasper HH, Henderson L. The effect of arousal mechanisms on various forms of abnormality in the electroencephalogram. Electroenceph Clin Neurophysiol 1952; 4:513-26.
34. Jung R. Zur Klinik und Elektrophysiologie des "petit mal". 4ème Cong. Internat. d'EEG et Neuropsychologie clinique. Acta Med Belg 1957. p. 296.
35. Rajna P, Lona C. Sensory stimulation for inhibition of epileptic seizures. Epilepsia 1989;30:168-74. (Pubitemid 19095106)
36. Gloor P, Testa G, Guberman A. Brain-stem and cortical mechanisms in an animal model of corticoreticular epilepsy. Trans Am Neurol Assoc 1973;98:203-5.
37. Niedermeyer E. The generalized epilepsies: A clinical electroencephalographic study. (CC Thomas ed.) Illinois: Springfield; 1972. p. 247.
38. Passouant P. Absence or petit mal. Clinical and physiopathological problems. Rev Esp Otoneuroophtalmol Neurocir 1971;29:11-28.
39. Halász P, Dévényi É. Petit mal absence in night-sleep with special reference to transitional sleep and REM periods. Acad Sci Hung 1974;31:31-45.
40. Halász P. Generalized epilepsy with spike-wave paroxysms as an epileptic disorder of the function of sleep promotion. Acta Physiol Acad Sci Hung 1981;57:51-86. (Pubitemid 11031093)
41. Halász P. Sleep, arousal and electroclinical manifestations of generalized epilepsy with spike wave pattern. Epilepsy Res 1991;(Suppl)2:43-8.
42. Shouse MN, King A, Langer J, et al. Basic mechanisms underlying seizure-prone and seizure-resistent sleep and awakening states in feline kindled and penicillin epilepsy. In:Wada JA (ed.). Kindling 4, 1990. p. 313-27.
43. Coenen AML, Drinkenburg WHIM, Peelers BWMM, Vossen JMH, Van Luijtelaar EUM. Absence epilepsy and the level of vigilance in rats og the WAG/Rij strain. Neuroscience & Biobehavioral Reviews 1991;15:259-63.
44. Niedermeyer E. Über auslösende Mechanismen von Kramfpotentialen bei centrenphaler Epilepsie. Nervenarzt 1967;38:72-4.
45. Halász P. Role of the non-specific phasic activation in sleep regulation and in the pathomechanism of generalized epilepsy with spike-wave pattern. Doctorial thesis, 1982, Budapest.
46. Terzano MG, Parrino L, Anelli S, Halász P. Modulation of generalized spike-and-wave discharges during sleep by cyclic alternating pattern. Epilepsia 1989;30:772-81. (Pubitemid 20011736)
47. Gigli GL, Calia E, Marciani MG, Mazza S, Mennuni G, Diomedi M, et al. Sleep microstructure and EEG epileptiform activity in patients with juvenile myoclonic epilepsy. Epilepsia 1992;33(5):799-804.
48. Steriade M. Neuronal substrates of sleep and epilepsy. Cambridge University Press; 2003.
49. Tenney JR, Duong TQ, King JA, Ludwig R, Ferris CF. Corticothalamic modulation during absence seizures in rats: a functional MRI assessment. Epilepsia 2003;44(9):1133-40. (Pubitemid 37100037)
50. Nehlig A, Volenti MP, Thiriaux A, Hirsch E, Marescaux C, Namer IJ. Ictal and interictal perfusion variations measured by SISCOM analysis in typical childhood absence seizures. Epileptic Disord 2004;6(4):247-53. (Pubitemid 40095989)
51. Hamandi K, Salek-Haddadi A, Laufs H, Liston A, Friston K, Fish DR, et al. EEG-fMRI of idiopathic and secondarily generalized epilepsies. Neuroimage 2006;31(4):1700-10.
52. Aghakhani Y, Bagshaw AP, Benar CG, Hawco C, Andermann F, Dubeau F, et al. MRI activation during spike and wave discharges in idiopathic generalized epilepsy. Brain 2004;127:1127-44.
53. Steriade M, Contreras D, Amzica F. Synchronized sleep oscillations and their paroxysmal developments. Trends Neurosci 1994;17:199-208. (Pubitemid 24128463)
54. Achermann P, Borbély A. Mathematical models of sleep regulation. Front Biosci 2003;8:s683-93.
55. Kattler H, Dijk DJ, Borbély AA. Effect of unilateral somatosensory stimulation prior to sleep on the sleep EEG in humans. J Sleep Res 1994, 3(3): 159-64. (Pubitemid 24311370)
56. Borbély AA, Baumann F, Brandeis D, Strauch I, Lehmann D. Sleep deprivation: effect on sleep stages and EEG power density in man. Electroencephalogr Clin Neurophysiol 1981;51(5):483-95.
57. Braun AR, Balkin TJ, Wesenten NJ, Carson RE, Varga M, Baldwin P, et al. Regional cerebral blood flow throughout the sleep-wake cycle. An H2 (15)O PET study. Brain 1997;120(Pt7):1173-97.
58. Halász P, Filakovszky J, Vargha A, Bagdy G. Effect of sleep deprivation on spike-wave discharges in idiopathic generalised epilepsy: a 4x24 h continuous long term EEG monitoring study. Epilepsy Res 2002;51(1-2):123-32. (Pubitemid 35283884)
59. Dalby MA. Epilepsy and 3 per second spike and wave rhythms. Acta Scand 1969;Suppl:40.
60. Lundervold A, Henriksen L, Fergesten L. The spike and wave complex: a clinical correlation. Electroenceph Clin Neurophysiol 1959;11:13-22.
61. O'Brien JL, Goldenshon ES, Hoefer FA. Electroencephalographic abnormalities in addition to bilaterally synchronous 3 per second spike and wave activity in petit mal. Electroenceph Clin Neurophysiol 1959;11:747-61.
62. Ogden TE, Aird RB, Garoutte B. The nature of bilateral and synchronous cerebral spiking. Acta Psychiat 1956;31:273-84.
63. Paal G, Calderon A. Fokalerscheinungen und EEG beim Petit Mal. Zbl Ges Psyciat 1957;140:4.
64. Terzian H, Cecotto C. Clinica e fisiopatologia della punteonde. Riv Neurol (Napoli) 1955;25:401-79.
65. Lombroso CT. Consistent EEG focalities detected in subjects with primary generalized epilepsies monitored for two decades. Epilepsia 1997;38(7):797-812. (Pubitemid 27299022)
66. Bennett FE. Intracarotid and intravertebral metrazol in petit mal epilepsy. Neurology 1953;3(9):668-73.
67. Gloor P, Testa G. Generalized penicillin epilepsy in the cat: effects of intracarotid and intravertebral pentylenetetrazol and amobarbital injections. Electroencephalogr Clin Neurophysiol 1974;36(5):499-515.
68. Leutmezer F, Wöginger S, Antoni E, Seidl B, Baumgartner C. Asymmetric ending of secondarily generalized seizures: a lateralizing sign in TLE. Neurology 2002;59(8):1252-4. (Pubitemid 35192400)
69. Unterberger I, Trinka E, Luef G, Bauer G. Idiopathic generalized epilepsies with pure grand mal: clinical data and genetics. Epilepsy Res 2001;44(1):19-25. (Pubitemid 32209269)
70. Usui N, Kotagal P, Matsumoto R, Kellingha C, Lüders HO. Focal semiologic and electroencephalographic features in patients with juvenile myoclonic epilepsy. Epilepsia 2005; 46(10):1668-76. (Pubitemid 44921944)
71. Yoshinaga H, Kobayashi K, Sato M, Oka E, Ohtahara S. Investigation of bilateral synchronous spike-wave discharge by EEG topography. Brain Topogr Springer 1996; 8(3):255-60. (Pubitemid 26146380)
72. Holmes MD, Brown M, Tucker DM. Are "generalized" seizures truly generalized? Evidence of localized mesial frontal and frontopolar discharges in absence. Epilepsia 2004;45(12):1568-79.
73. Rodin E, Ancheta O. Cerebral electrical fields during petit mal absences. Electroencephalogr Clin Neurophysiol 1987;66(6):457-66.
74. Petsche H. Pathophysiology and clinical aspects of petit mal. Toposcopic studies on the phenomenology of the spike wave pattern. Wien Z Nervenheilkd Grenzgeb 1962; 19:345-2.
75. Kudo T, Sato K, Yagi K, Seino M. Can absence status epilepticus be of frontal lobe origin? Acta Neurol Scand 1995;92(6):472-7.
76. Kubota F, Shibata N, Shiihara Y, Takahashi S, Ohsuka T. Frontal lobe epilepsy with secondarily generalized 3 Hz spike-waves: a case report. Clin Electroencephalogr 1997; 28(3):166-71. (Pubitemid 27311320)
77. Thomas P. Absence status epilepsy. Rev Neurol (Paris) 1999;155(12):1023-38. (Pubitemid 30003185)
78. Maruyama K, Itomi K, Ishiguro Y, Okumura A, Negoro T, Watanabe K. A case with frontal lobe epilepsy presenting with absence seizures as cardinal manifestation: ictal EEG findings. No To Hattatsu 2002;34(1):72-6. (Pubitemid 34044792)
79. Niedermeyer E. Primary (idiopathic) generalized epilepsy and underlying mechanisms. Clin Electroencephalogr 1996;27(1):1-21. (Pubitemid 26015485)
80. Niedermeyer E. Common generalized epilepsy. The socalled idiopathic or centrencephalic epilepsy. Eur Neurol 1973;9(3):133-56.
81. Penfield W. Jasper HH. Highest level seizures. A Res Nerv and Ment Dis Proc 1947;26:252-71.
82. Jasper HH. Etude anatomo-physiologique des epilepsies. Electroenceph clin Neurophysiol 1951;Suppl.2.
83. Tükel K, Jasper HH. The EEG in parasagittal lesions. Electroenceph Clin Neurophysiol 1952;4:481.
84. Kobayashi K, Ohtsuka Y, Oka E, Ohtahara S. Primary and secondary bilateral synchrony in epilepsy: differentiation by estimation of interhemispheric small time differences during short spike-wave activity. Electroencephalogr Clin Neurophysiol 1992;83:93-103.
85. Stefan H. Epileptic absences. Studies on the structure, pathophysiology and clinical course of the seizure Fortschr Med 1983 Jun 2;101(21):996-8.
86. Blumenfeld H. Consciousness and epilepsy: why are patients with absence seizures absent? Prog Brain Res 2005;150:271-86.
87. Wyllie E, Lachhwani DK, Gupta A, Chirla A, Cosmo G, Worley S, et al. Successful surgery for epilepsy due to early brain lesions despite generalized EEG findings. Neurology 2007 Jul 24;69(4):389-97. (Pubitemid 47205667)
88. Woermann FG, Free SL, Koepp MJ, Sisodiya SM, Duncan JS. Abnormal cerebral structur in juvenile myoclonic epilepsy demonstrated with voxel-based analysis of MRI. Brain 1999;122(Pt11):2101-8.
89. Duncan JS. Brain imaging in idiopathic generalized epilepsies. Epilepsia 2005;46(Suppl9):108-11. (Pubitemid 44921987)
90. Savic I, Lekvall A, Greitz D, Helms G. MR spectroscopy shows reduced frontal lobe concentrations of N-acetyl aspartate in patients with juvenile myoclonic epilepsy. Epilepsia 2000;41(3):290-6.
91. Beghi M, Beghi E, Cornaggia CM, Gobbi G. Idiopathic generalized epilepsies of adolescence. Epilepsia 2006;47 (Suppl2):107-10.
92. Janz D. Die Epilepsien. Stuttgart: Georg Thieme Verlag; 1969.
93. Devinsky O, Gershengorn J, Brown E, Perrine K, Vazquez B, Luciano D. Frontal functions in juvenile myoclonic epilepsy. Neuropsychiatry Neuropsychol Behav Neurol 1997;10(4):243-6. (Pubitemid 27477901)
94. Meencke HJ, Janz D. Neuropathological findings in primary generalized epilepsy: a study of eight cases. Epilepsia 1984;25(1):8-21. (Pubitemid 14195316)
95. Ferlazzo E, Zifkin BG, Andermann E, Andermann F.: Cortical triggers in generalized reflex seizures and epilepsies. Brain 2005;128(Pt 4):700-10. (Pubitemid 40516909)
96. Wolf P, Goosses R. Relation of photosensitivity to epileptic syndromes. J Neurol Neurosurg Psychiatry 1986;49 (12):1386-91. (Pubitemid 17209054)
97. Appleton R, Beirne M, Acomb B. Photosensitivity in juvenile myoclonic epilepsy. Seizure 2000;9(2):108-11.
98. Wilkins AJ, Binnie CD, Darby CE. Visually-induced seizures. Prog Neurobiol 1980;15(2):85-117. Review.
99. Ferrie CD, De Marco P, Grünewald RA, Giannakodimos S, Panayiotopoulos CP. Video game induced seizures. J Neurol Neurosurg Psychiatry 1994;57(8):925-31. (Pubitemid 24251055)
100. Binnie CD. Evidence of reflex epilepsy on functional systems int he brain and "generalized" epilepsy. In:Wolf P, Inoue Y, Zifkin B (eds.). Reflex epilepsies. Paris: John Libbey Eurotext: Current problems in epilepsy series: vol. 19, 2004. p. 7-14.
101. Goosses LA, Andermann F, Andermann E, Remillard GM. Reflex seizures induced by calculation, card or board games, and spatial tasks: a review of 25 patients and delineation of the epileptic syndrome. Neurology 1990;40(8):1171-6. (Pubitemid 20244970)
102. Inoue Y, Seino M, Kubota H, Yamakaku K, Tanaka M, Yagi K. Epilepsy with praxis induced seizures. In:Wolf P (ed.). Epileptic seizures and syndromes. London: John Libbey; 1994. p. 61-91.
103. Wolf P. Reading epilepsy. In:Roger J, Bureau M, Dravet C, Dreifuss FE, Perret A, Wolf P (eds.). Epileptic syndromes in infancy, childhood and adolescence. 2nd ed. London: John Libbey; 1992, p. 281-98.
104. Koutroumanidis M, Koepp MJ, Richardson MP, Camfield C, Agathonikou A, Ried S, et al. The variants of reading epilepsy. A clinical and video-EEG study of 17 patients with reading induced seizures. Brain 1998;121:1409-27.
105. Archer JS, Briellmann RS, Syngeniotis A, Abbott DF, Jackson GD. Spike-triggered fMRI in reading epilepsy: involvement of left frontal cortex working memory area. Neurology 2003 Feb 11;60(3):415-21. (Pubitemid 36188236)
106. Daly RF, Forster FM. Inheritance of reading epilepsy. Neurology 1975;25(11):1051-4.
107. Lee SI, Sutherling WW, Persing JA, Butler AB. Language-induced seizure. A case of cortical origin. Arch Neurol 1980;37(7):433-6.
108. Ritaccio AL, Hickling EJ, Ramani V. The role of dominant premotor cortex and grapheme to phoneme transformation in reading epilepsy. A neuroanatomic, neurophysiologic, and neuropsychological study. Arch Neurol 1992;49(9):933-9.
109. Meeren H, van Luijtelaar G, Lopes da Silva F, Coenen A. Evolving concepts on the pathophysiology of absence seizures: the cortical focus theory. Arch Neurol 2005;62:371-37.
110. Karpova AV, Bikbaev AF, Coenen AM, van Luijtelaar G. Morphometric Golgi study of cortical locations in WAG/Rij rats: the cortical focus theory. Neurosci Res 2005;51(2):119-28. (Pubitemid 40164947)
111. Klein JP, Khera DS, Nersesyan H, Kimchi EY, Waxman SG, Blumenfeld H. Dysregulation of sodium channel expression in cortical neurons in a rodent model of absence epilepsy. Brain Res 2004 Mar 12;1000(1-2): 102-9. (Pubitemid 38446495)
112. D'Arcangelo G, D'Antuono M, Tancredi V, Avoli M. Neocortical hyperexcitability in a genetic model of absence seizures and its reduction by levetiracetam. Epilepsia 2006;47(7):1144-52. (Pubitemid 44086749)
113. Manning JP, Richards DA, Leresche N, Crunelli V, Bowery NG. Cortical-area specific block of genetically determined absence seizures by ethosuximide. Neuroscience 2004;123(1):5-9.
114. Sitnikova E, van Luijtelaar G. Cortical control of generalized absence seizures: effect of lidocaine applied to the somatosensory cortex in WAG/Rij rats. Brain Res Bull 2004 Jun 25;1012(1-2):127-37. (Pubitemid 38648907)
115. Imbrici P, Jaffe SL, Eunson LH, Davies NP, Herd C, Robertson R, et al. Dysfunction of the brain calcium channel CaV2.1 in absence epilepsy and episodic ataxia. Brain 2004;127(Pt12):2682-92. (Pubitemid 39627377)
116. Jouvenceau A, Eunson LH, Spauschus A, Ramesh V, Zuberi SM, Kullmann DM, et al. Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel. Lancet 2001 Sep 8;358(9284):801-7. (Pubitemid 32868732)
117. Talley EM, Cribbs LL, Lee JH, Daud A, Perez-Reyes E, Bayliss DA. Differential distribution of three members of a gene family encoding low voltage-activated (T-type) calcium channels. J Neurosci 1999;19(6):1895-911. (Pubitemid 29133368)
118. Perez-Reyes E, Lory P. Molecular biology of T-type calcium channels. CNS Neurol Disord Drug Targets 2006;5(6):605-9. (Pubitemid 44890572)
119. Chen Y, Lu J, Pan H, Zhang Y, Wu H, Xu K, et al. Association between genetic variation of CACNA1H and childhood absence epilepsy. Ann Neurol 2004;55(4):595-6.
120. D'Agostino D, Bertelli M, Gallo S, Cecchin S, Albiero E, Garofalo PG, et al. Mutations and polymorphisms of the CLCN2 gene in idiopathic epilepsy. Neurology 2004; 63(8):1500-2. (Pubitemid 39426290)
121. Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud'homme JF, et al. First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet 2001;28(1):46-8.
122. Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, et al. Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 2002;31(2):184-9.
123. Dibbens LM, Feng HJ, Richards MC, Harkin LA, Hodgson BL, Scott D, et al. GABRD encoding a protein for extra- or peri-synaptic GABAA receptors is a susceptibility locus for generalized epilepsies. Hum Mol Genet 2004;13(13):1315-9.
124. Tan HO, Reid CA, Chiu C, Jones MV, Petrou S. Increased thalamic inhibition in the absence seizure prone DBA/2J mouse. Epilepsia 2008;49(5):921-5. (Pubitemid 351681503)
125. Scheffer IE, Berkovic SF. Generalized epilepsy with febrile seizures plus. A genetic disorder with heterogeneous clinical phenotypes. Brain 1997;120(Pt3):479-90.
126. Hirose S, Mitsudome A, Okada M, Kaneko S; Epilepsy Genetic Study Group, Japan. Genetics of idiopathic epilepsies. Epilepsia 2005;46(Suppl1):38-43.
127. Scheffer IE, Zhang YH, Jansen FE, Dibbens L Dravet syndrome or genetic (generalized) epilepsy with febrile seizures plus? Brain Dev 2009 (Epub ahead of print.)
128. Abou-Khalil B, Ge Q, Desai R, Ryther R, Bazyk A, Bailey R, et al. Partial and generalized epilepsy with febrile seizures plus and a novel SCNlA mutation. Neurology 2001;57(12):2265-72. (Pubitemid 34016462)
129. Deng YH, Berkovic SF, Scheffer IE. GEFS+ where focal seizures evolve from generalized spike wave: video-EEG study of two children. Epileptic Disord 2007;9(3): 307-14. (Pubitemid 47606314)
130. Panayiotopoulos CP. Syndromes of idiopathic generalized epilepsies not recognized by the International League Against Epilepsy. Epilepsia 2005;46(Suppl9): 57-66. (Pubitemid 44921980)
131. Berkovic SF, Andermann F, Andermann E, Gloor P. Concepts of absence epilepsies: discrete syndromes or biological continuum? Neurology 1987;37(6):993-1000.