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Volumn 121, Issue 2, 1998, Pages 205-223

Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome

Author keywords

DNA analysis; Frontal lobe epilepsy; Neuronal nicotinic acetylcholine receptor 4 subunit gene; Parasomnias; Sleep

Indexed keywords

ANTICONVULSIVE AGENT; MEMBRANE RECEPTOR; NICOTINIC RECEPTOR; PROTEIN SUBUNIT;

EID: 0031931373     PISSN: 00068950     EISSN: None     Source Type: Journal    
DOI: 10.1093/brain/121.2.205     Document Type: Article
Times cited : (224)

References (80)
  • 1
    • 0026758853 scopus 로고
    • Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans
    • Anand R, Lindstrom J. Chromosomal localization of seven neuronal nicotinic acetylcholine receptor subunit genes in humans. Genomics 1992; 13: 962-7.
    • (1992) Genomics , vol.13 , pp. 962-967
    • Anand, R.1    Lindstrom, J.2
  • 3
    • 0029101683 scopus 로고
    • Comment
    • Bennett RL, Steinhaus KA, Uhrich SB, O'Sullivan CK, Resta RG, Lochner-Doyle D, et al. Recommendations for standardized human pedigree nomenclature [see comments]. Am J Hum Genet 1995; 56: 745-52. Comment in: Am J Hum Genet 1995; 57: 981-4.
    • (1995) Am J Hum Genet , vol.57 , pp. 981-984
  • 7
    • 0016710633 scopus 로고
    • Paroxysmal 'nightmares' responsive to diphenylhydantin. Sequel of a stroke
    • Boiler F, Wright DG, Cavalieri R, Mitsumoto H. Paroxysmal 'nightmares' responsive to diphenylhydantin. Sequel of a stroke. Neurology 1975; 25: 1026-8.
    • (1975) Neurology , vol.25 , pp. 1026-1028
    • Boiler, F.1    Wright, D.G.2    Cavalieri, R.3    Mitsumoto, H.4
  • 8
    • 0014406303 scopus 로고
    • Sleep disorders: Disorders of arousals?
    • Broughton RJ. Sleep disorders: disorders of arousals? [Review]. Science 1968; 159: 1070-8.
    • (1968) Science , vol.159 , pp. 1070-1078
    • Broughton, R.J.1
  • 10
  • 12
    • 0024317220 scopus 로고
    • Proposal for revised classification of epilepsies and epileptic syndromes
    • Commission on Classification and Terminology of the International League Against Epilepsy. Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 1989; 30: 389-99.
    • (1989) Epilepsia , vol.30 , pp. 389-399
  • 13
    • 0026013289 scopus 로고
    • Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse
    • Eng CM, Kozak CA, Beaudet AL, Zoghbi HY. Mapping of multiple subunits of the neuronal nicotinic acetylcholine receptor to chromosome 15 in man and chromosome 9 in mouse. Genomics 1991; 9: 278-82.
    • (1991) Genomics , vol.9 , pp. 278-282
    • Eng, C.M.1    Kozak, C.A.2    Beaudet, A.L.3    Zoghbi, H.Y.4
  • 17
    • 1842307516 scopus 로고
    • Paroxysmal psychological events and certain phases of sleep
    • Gastaut H, Broughton R. Paroxysmal psychological events and certain phases of sleep. Percept Mot Skills 1963; 17: 362.
    • (1963) Percept Mot Skills , vol.17 , pp. 362
    • Gastaut, H.1    Broughton, R.2
  • 19
    • 0001570223 scopus 로고
    • A clinical and polygraphic study of episodic phenomena during sleep
    • Wortis J, editor. New York: Plenum Press
    • Gastaut H, Broughton RJ. A clinical and polygraphic study of episodic phenomena during sleep. In: Wortis J, editor. Recent advances in biology and psychiatry, Vol. 7. New York: Plenum Press; 1965. pp. 197-221.
    • (1965) Recent Advances in Biology and Psychiatry , vol.7 , pp. 197-221
    • Gastaut, H.1    Broughton, R.J.2
  • 20
    • 0026801078 scopus 로고
    • Sleep microstructure and EEG epileptiform activity in patients with juvenile myoclonic epilepsy
    • 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: 799-804.
    • (1992) Epilepsia , vol.33 , pp. 799-804
    • Gigli, G.L.1    Calia, E.2    Marciani, M.G.3    Mazza, S.4    Mennuni, G.5    Diomedi, M.6
  • 22
    • 0021825060 scopus 로고
    • Hypnogenic paroxysmal dystonia: Epilepsy or sleep disorder? A case report
    • Godbout R, Montplaisir J, Rouleau I. Hypnogenic paroxysmal dystonia: epilepsy or sleep disorder? A case report. Clin Electroencephalogr 1985; 16: 136-42.
    • (1985) Clin Electroencephalogr , vol.16 , pp. 136-142
    • Godbout, R.1    Montplaisir, J.2    Rouleau, I.3
  • 23
    • 0028864443 scopus 로고
    • Forensic sleep medicine: Nocturnal wandering and violence
    • Guilleminault C, Moscovitch A, Leger D. Forensic sleep medicine: nocturnal wandering and violence. Sleep 1995; 18: 740-8.
    • (1995) Sleep , vol.18 , pp. 740-748
    • Guilleminault, C.1    Moscovitch, A.2    Leger, D.3
  • 24
    • 0022310589 scopus 로고
    • Are microarousals preceded by EEGic slow wave synchronization precursors of confusional awakenings?
    • Halasz P, Ujszaszi J, Gadoros J. Are microarousals preceded by EEGic slow wave synchronization precursors of confusional awakenings? Sleep 1985; 8: 231-8.
    • (1985) Sleep , vol.8 , pp. 231-238
    • Halasz, P.1    Ujszaszi, J.2    Gadoros, J.3
  • 30
    • 0029886532 scopus 로고    scopus 로고
    • Parametric and nonparametric linkage analysis: A unified multipoint approach
    • Kruglyak L, Daly MJ, Reeve-Daly MP, Lander ES. Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996; 58: 1347-63.
    • (1996) Am J Hum Genet , vol.58 , pp. 1347-1363
    • Kruglyak, L.1    Daly, M.J.2    Reeve-Daly, M.P.3    Lander, E.S.4
  • 34
    • 0019503795 scopus 로고
    • Hypnogenic paroxysmal dystonia: Epileptic seizure or a new syndrome?
    • Lugaresi E, Cirignotta F. Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome? Sleep 1981; 4: 129-38.
    • (1981) Sleep , vol.4 , pp. 129-138
    • Lugaresi, E.1    Cirignotta, F.2
  • 36
    • 0026582327 scopus 로고
    • Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20
    • Malafosse A, Leboyer M, Dulac O, Navalet Y, Plouin P, Beck C, et al. Confirmation of linkage of benign familial neonatal convulsions to D20S19 and D20S20. Hum Genet 1992; 89: 54-8.
    • (1992) Hum Genet , vol.89 , pp. 54-58
    • Malafosse, A.1    Leboyer, M.2    Dulac, O.3    Navalet, Y.4    Plouin, P.5    Beck, C.6
  • 37
    • 0029918257 scopus 로고    scopus 로고
    • An analysis of clinical seizure patterns and their localizing value in frontal and temporal lobe epilepsies
    • Manford M, Fish DR, Shorvon SD. An analysis of clinical seizure patterns and their localizing value in frontal and temporal lobe epilepsies. Brain 1996; 119: 17-40.
    • (1996) Brain , vol.119 , pp. 17-40
    • Manford, M.1    Fish, D.R.2    Shorvon, S.D.3
  • 38
    • 0023779865 scopus 로고
    • Episodic nocturnal wanderings in non-epileptic young patients
    • see comments
    • Maselli RA, Rosenberg RS, Spire JP. Episodic nocturnal wanderings in non-epileptic young patients [see comments]. Sleep 1988; 11: 156-61. Comment in: Sleep 1989; 12: 186-8.
    • (1988) Sleep , vol.11 , pp. 156-161
    • Maselli, R.A.1    Rosenberg, R.S.2    Spire, J.P.3
  • 39
    • 0024652276 scopus 로고
    • Comment
    • Maselli RA, Rosenberg RS, Spire JP. Episodic nocturnal wanderings in non-epileptic young patients [see comments]. Sleep 1988; 11: 156-61. Comment in: Sleep 1989; 12: 186-8.
    • (1989) Sleep , vol.12 , pp. 186-188
  • 40
    • 0026543705 scopus 로고
    • Is nocturnal paroxysmal dystonia a form of frontal lobe epilepsy?
    • see comments
    • Meierkord H, Fish DR, Smith SJ, Scott CA, Shorvon SD, Marsden CD. Is nocturnal paroxysmal dystonia a form of frontal lobe epilepsy? [see comments]. Mov Disord 1992; 7: 38-42. Comment in: Mov Disord 1993; 8: 252-3.
    • (1992) Mov Disord , vol.7 , pp. 38-42
    • Meierkord, H.1    Fish, D.R.2    Smith, S.J.3    Scott, C.A.4    Shorvon, S.D.5    Marsden, C.D.6
  • 41
    • 0027581498 scopus 로고
    • Comment
    • Meierkord H, Fish DR, Smith SJ, Scott CA, Shorvon SD, Marsden CD. Is nocturnal paroxysmal dystonia a form of frontal lobe epilepsy? [see comments]. Mov Disord 1992; 7: 38-42. Comment in: Mov Disord 1993; 8: 252-3.
    • (1993) Mov Disord , vol.8 , pp. 252-253
  • 43
    • 0026889130 scopus 로고
    • Nocturnal paroxysmal dystonia and nocturnal wandering
    • Montagna P. Nocturnal paroxysmal dystonia and nocturnal wandering. [Review], Neurology 1992; 42 (7 Suppl 6): 61-7.
    • (1992) Neurology , vol.42 , Issue.7 SUPPL. 6 , pp. 61-67
    • Montagna, P.1
  • 45
    • 0026456748 scopus 로고
    • Electroclinical symptomatology of partial seizures of orbital frontal origin
    • Munari C, Bancaud J. Electroclinical symptomatology of partial seizures of orbital frontal origin. Adv Neurol 1992; 57: 257-65.
    • (1992) Adv Neurol , vol.57 , pp. 257-265
    • Munari, C.1    Bancaud, J.2
  • 46
    • 0029183398 scopus 로고
    • Video-stereo-EEGic investigation of orbitofrontal cortex: Ictal electroclinical patterns
    • Munari C, Tassi L, Di Leo M, Kahane P, Hoffmann D, Francione S, et al. Video-stereo-EEGic investigation of orbitofrontal cortex: ictal electroclinical patterns. Adv Neurol 1995; 66: 273-95.
    • (1995) Adv Neurol , vol.66 , pp. 273-295
    • Munari, C.1    Tassi, L.2    Di Leo, M.3    Kahane, P.4    Hoffmann, D.5    Francione, S.6
  • 48
    • 0029788681 scopus 로고    scopus 로고
    • Autosomal dominant nocturnal frontal lobe epilepsy: Electroclinical picture
    • Oldani A, Zucconi M, Ferini-Strambi L, Bizzozero D, Smirne S. Autosomal dominant nocturnal frontal lobe epilepsy: electroclinical picture. Epilepsia 1996; 37: 964-76.
    • (1996) Epilepsia , vol.37 , pp. 964-976
    • Oldani, A.1    Zucconi, M.2    Ferini-Strambi, L.3    Bizzozero, D.4    Smirne, S.5
  • 49
    • 0024652276 scopus 로고
    • Episodic nocturnal wandering
    • Oswald J. Episodic nocturnal wandering [letter; comment]. Sleep 1989; 12: 186-8. Comment on: Sleep 1988; 11: 156-61.
    • (1989) Sleep , vol.12 , pp. 186-188
    • Oswald, J.1
  • 50
    • 0023779865 scopus 로고
    • Comment
    • Oswald J. Episodic nocturnal wandering [letter; comment]. Sleep 1989; 12: 186-8. Comment on: Sleep 1988; 11: 156-61.
    • (1988) Sleep , vol.11 , pp. 156-161
  • 51
    • 0017510830 scopus 로고
    • Episodic nocturnal wanderings responsive to anticonvulsant drug therapy
    • Pedley TA, Guilleminault C. Episodic nocturnal wanderings responsive to anticonvulsant drug therapy. Ann Neurol 1977; 2: 30-5.
    • (1977) Ann Neurol , vol.2 , pp. 30-35
    • Pedley, T.A.1    Guilleminault, C.2
  • 52
    • 0022631321 scopus 로고
    • Paroxysmal awakenings from sleep associated with excessive daytime somnolence. A form of nocturnal epilepsy
    • Peled R, Lavie P. Paroxysmal awakenings from sleep associated with excessive daytime somnolence. A form of nocturnal epilepsy. Neurology 1986; 36: 95-8.
    • (1986) Neurology , vol.36 , pp. 95-98
    • Peled, R.1    Lavie, P.2
  • 53
    • 0029045967 scopus 로고
    • Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2
    • see comments
    • Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2 [letter] [see comments]. Nat Genet 1995; 10: 117-8. Comment in: Nat Genet 1995; 10: 4-6.
    • (1995) Nat Genet , vol.10 , pp. 117-118
    • Phillips, H.A.1    Scheffer, I.E.2    Berkovic, S.F.3    Hollway, G.E.4    Sutherland, G.R.5    Mulley, J.C.6
  • 54
    • 0029045967 scopus 로고
    • Comment
    • Phillips HA, Scheffer IE, Berkovic SF, Hollway GE, Sutherland GR, Mulley JC. Localization of a gene for autosomal dominant nocturnal frontal lobe epilepsy to chromosome 20q 13.2 [letter] [see comments]. Nat Genet 1995; 10: 117-8. Comment in: Nat Genet 1995; 10: 4-6.
    • (1995) Nat Genet , vol.10 , pp. 4-6
  • 55
    • 0027102589 scopus 로고
    • The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and neuronal nicotinic acetylcholine receptor 4 subunit (CHRNA4) map to human chromosome 20, extending the known region of homology with mouse chromosome 2
    • Pilz AJ, Willer E, Povey S, Abbott CM. The genes coding for phosphoenolpyruvate carboxykinase-1 (PCK1) and neuronal nicotinic acetylcholine receptor 4 subunit (CHRNA4) map to human chromosome 20, extending the known region of homology with mouse chromosome 2. Ann Hum Genet 1992; 56: 289-93.
    • (1992) Ann Hum Genet , vol.56 , pp. 289-293
    • Pilz, A.J.1    Willer, E.2    Povey, S.3    Abbott, C.M.4
  • 60
    • 0028011992 scopus 로고
    • Autosomal dominant frontal lobe epilepsy misdiagnosed as sleep disorder
    • see comments
    • Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann F, et al. Autosomal dominant frontal lobe epilepsy misdiagnosed as sleep disorder [see comments]. [Review]. Lancet 1994; 343: 515-7. Comment in: Lancet 1996; 347: 1191-2.
    • (1994) Lancet , vol.343 , pp. 515-517
    • Scheffer, I.E.1    Bhatia, K.P.2    Lopes-Cendes, I.3    Fish, D.R.4    Marsden, C.D.5    Andermann, F.6
  • 61
    • 0030603532 scopus 로고    scopus 로고
    • Comment
    • Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann F, et al. Autosomal dominant frontal lobe epilepsy misdiagnosed as sleep disorder [see comments]. [Review]. Lancet 1994; 343: 515-7. Comment in: Lancet 1996; 347: 1191-2.
    • (1996) Lancet , vol.347 , pp. 1191-1192
  • 66
    • 0029338992 scopus 로고
    • Detection of a CfoI polymorphism within exon 5 of the human neuronal nicotinic acetylcholine receptor 4 subunit gene (CHRNA4)
    • Steinlein O. Detection of a CfoI polymorphism within exon 5 of the human neuronal nicotinic acetylcholine receptor 4 subunit gene (CHRNA4). Hum Genet 1995; 96: 130.
    • (1995) Hum Genet , vol.96 , pp. 130
    • Steinlein, O.1
  • 67
    • 0026553008 scopus 로고
    • Localization of a gene for the human low-voltage EEG on 20q and genetic heterogeneity
    • Steinlein O, Anokhin A, Yping M, Schalt E, Vogel F. Localization of a gene for the human low-voltage EEG on 20q and genetic heterogeneity. Genomics 1992; 12: 69-73.
    • (1992) Genomics , vol.12 , pp. 69-73
    • Steinlein, O.1    Anokhin, A.2    Yping, M.3    Schalt, E.4    Vogel, F.5
  • 68
    • 0028067408 scopus 로고
    • Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor 4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3
    • Steinlein O, Smigrodzki R, Lindstrom J, Anand R, Köhler M, Tocharoentanaphol C, et al. Refinement of the localization of the gene for neuronal nicotinic acetylcholine receptor 4 subunit (CHRNA4) to human chromosome 20q13.2-q13.3. Genomics 1994; 22: 493-5.
    • (1994) Genomics , vol.22 , pp. 493-495
    • Steinlein, O.1    Smigrodzki, R.2    Lindstrom, J.3    Anand, R.4    Köhler, M.5    Tocharoentanaphol, C.6
  • 69
    • 0028980028 scopus 로고
    • A missense mutation in the neuronal nicotinic acetylcholine receptor 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy
    • Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 1995; 11: 201-3.
    • (1995) Nat Genet , vol.11 , pp. 201-203
    • Steinlein, O.K.1    Mulley, J.C.2    Propping, P.3    Wallace, R.H.4    Phillips, H.A.5    Sutherland, G.R.6
  • 70
    • 0029866498 scopus 로고    scopus 로고
    • Exon-intron structure of the human neuronal nicotinic acetylcholine receptor 4 subunit (CHRNA4)
    • Steinlein O, Weiland S, Stoodt J, Propping P. Exon-intron structure of the human neuronal nicotinic acetylcholine receptor 4 subunit (CHRNA4). Genomics 1996; 32: 289-94.
    • (1996) Genomics , vol.32 , pp. 289-294
    • Steinlein, O.1    Weiland, S.2    Stoodt, J.3    Propping, P.4
  • 73
    • 0024820758 scopus 로고
    • Modulation of generalized spike-and-wave discharges during sleep by cyclic alternating pattern
    • Terzano MG, Parrino L, Anelli S, Halasz P. Modulation of generalized spike-and-wave discharges during sleep by cyclic alternating pattern. Epilepsia 1989; 30: 772-81.
    • (1989) Epilepsia , vol.30 , pp. 772-781
    • Terzano, M.G.1    Parrino, L.2    Anelli, S.3    Halasz, P.4
  • 74
    • 0026041738 scopus 로고
    • Activation of partial seizures with motor signs during cyclic alternating pattern in human sleep
    • Terzano MG, Parrino L, Garofalo PG, Durisotti C, Filati-Roso C. Activation of partial seizures with motor signs during cyclic alternating pattern in human sleep. Epilepsy Res 1991; 10: 166-73.
    • (1991) Epilepsy Res , vol.10 , pp. 166-173
    • Terzano, M.G.1    Parrino, L.2    Garofalo, P.G.3    Durisotti, C.4    Filati-Roso, C.5
  • 75
    • 0015388860 scopus 로고
    • Orbital frontal seizures. An unique EEGic and clinical syndrome
    • Tharp BR. Orbital frontal seizures. An unique EEGic and clinical syndrome. Epilepsia 1972; 13: 627-42.
    • (1972) Epilepsia , vol.13 , pp. 627-642
    • Tharp, B.R.1
  • 76
    • 0025120895 scopus 로고
    • Nocturnal paroxysmal dystonia with short-lasting attacks: Three cases with evidence for an epileptic frontal lobe origin of seizures
    • Tinuper P, Cerullo A, Cirignotta F, Cortelli P, Lugaresi E, Montagna P. Nocturnal paroxysmal dystonia with short-lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures. Epilepsia 1990; 31: 549-56.
    • (1990) Epilepsia , vol.31 , pp. 549-556
    • Tinuper, P.1    Cerullo, A.2    Cirignotta, F.3    Cortelli, P.4    Lugaresi, E.5    Montagna, P.6
  • 77
    • 0027406988 scopus 로고
    • Hypnic tonic postural seizures in healthy children provide evidence for a partial epileptic syndrome of frontal lobe origin
    • Vigevano F, Fusco L. Hypnic tonic postural seizures in healthy children provide evidence for a partial epileptic syndrome of frontal lobe origin. Epilepsia 1993; 34: 110-9.
    • (1993) Epilepsia , vol.34 , pp. 110-119
    • Vigevano, F.1    Fusco, L.2
  • 78
  • 80
    • 0009513088 scopus 로고    scopus 로고
    • Periodic paroxysmal arousals during sleep with atypical motor behaviors: Nocturnal frontal lobe epilepsy or parasomnia?
    • Zucconi M, Oldani A, Ferini-Strambi L, Bizzozero D, Massimo A, Smirne S. Periodic paroxysmal arousals during sleep with atypical motor behaviors: nocturnal frontal lobe epilepsy or parasomnia? [abstract]. Sleep Res 1996; 25: 396.
    • (1996) Sleep Res , vol.25 , pp. 396
    • Zucconi, M.1    Oldani, A.2    Ferini-Strambi, L.3    Bizzozero, D.4    Massimo, A.5    Smirne, S.6


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