Autosomal dominant nocturnal frontal lobe epilepsy (original) (raw)

References

  1. C, Charnay Y, Vallet P, Abitbol M, Kobetz A, Bertrand D, Malafosse A (1998) Distribution of mRNA for the alpha4 subunit of the nicotinic acetylcholine receptor in the human fetal brain. Brain Res Mol Brain Res 58:123–131
    CAS PubMed Google Scholar
  2. Akabas MH, Kaufmann C, Archdeacon P, Karlin A (1994) Identification of acetylcholine receptor channel-lining residues in the entire M2 segment of the alpha subunit. Neuron 13:919–927
    Article CAS PubMed Google Scholar
  3. Anderson E, Berkovic S, Dulac O, Gardiner M, Jain S, Laue Friis M, Lindhout D, Noebels J, Ottman R, Scaramelli A, Serratosa J, Steinlein O, Avanzini G, Bailey-Wilson J, Cardon L, Fischbach R, Gwinn-Hardy K, Leppert M, Ott J, Lindblad-Toh K, Weiss K, Laue-Friis M; ILAE Genetics Commission (2002) ILAE genetics commission conference report: molecular analysis of complex genetic epilepsies. Epilepsia 43:1262–1267
    Article Google Scholar
  4. Badano JL, Katsanis N (2002) Beyond Mendel: an evolving view of human genetic disease transmission. Nat Rev 3:779–789
    Google Scholar
  5. Baulac S, Huberfeld G, Gourfinkel-An I, Mitropoulou G, Beranger A, Prud’homme JF, Baulac M, Brice A, Bruzzone R, LeGuern E (2001) First genetic evidence of GABA(A) receptor dysfunction in epilepsy: a mutation in the gamma2-subunit gene. Nat Genet 28:46–48
    Google Scholar
  6. Berkovic SF, Howell RA, Hay DA, Hopper JL (1998) Epilepsies in twins: genetics of the major epilepsy syndromes. Ann Neurol 43:435–445
    Google Scholar
  7. Bertrand D, Picard F, Le Hellard S, Weiland S, Favre I, Phillips H, Bertrand S, Berkovic SF,Malafosse A, Mulley J (2002) How mutations in the nAChRs can cause ADNFLE epilepsy. Epilepsia 43:112–122
    Article CAS PubMed Google Scholar
  8. Biervert C, Schroeder BC, Kubisch C, Berkovic SF, Propping P, Jentsch TJ, Steinlein OK (1998) A potassium channel mutation in neonatal human epilepsy. Science 279:403–406
    Article CAS PubMed Google Scholar
  9. Blatt I, Peled R, Gadoth N, Lavie P (1991) The value of sleep recording in evaluating somnambulism in young adults. Electroencephalogr Clin Neurophysiol 78:407–412
    Article CAS Google Scholar
  10. Boller F, Wright DG, Cavalieri R, Mitsumoto H (1975) Paroxysmal “nightmares”. Sequel of a stroke responsive to diphenylhydantoin. Neurology 25:1026–1028
    CAS PubMed Google Scholar
  11. Bonati MT, Combi R, Asselta R, Duga S, Malcovati M, Oldani A, Zucconi M, Ferini-Strambi L, Dalprà L, Tenchini ML (2002) Exclusion of linkage of nine neuronal nicotinic acetylcholine receptor subunit genes expressed in brain in autosomal dominant nocturnal frontal lobe epilepsy in four unrelated families. J Neurol 249:967–974
    Article Google Scholar
  12. Charlier C, Singh NA, Ryan SG, Lewis TB, Reus BE, Leach RJ, Leppert M (1998) A pore mutation in a novel KQT-like potassium channel gene in an idiopathic epilepsy family. Nat Genet 18:53–55
    CAS PubMed Google Scholar
  13. Chavel P, Kliemann F, Vignal JP, Chodkiewicz JP, Talairach J, Bancaud J (1995) The clinical signs and symptoms of frontal lobe seizures. Phenomenology and classification. In: Jasper HH, Riggio S, Goldman-Rakic PS (eds) Epilepsy and the functional anatomy of the frontal lobe.New York: Raven Press: pp 0.115–26. Adv Neurol, vol. 66
  14. Chioza B, Wilkie H, Nashef L, Blower J, McCormick D, Sham P, Asherson P, Makoff AJ (2001) Association between the alpha (1a) calcium channel gene CACNA1A and idiopathic generalized epilepsy. Neurology 56:1245–1246
    CAS PubMed Google Scholar
  15. Cirignotta F, Zucconi M, Mondini S, Lenzi PL, Lugaresi E (1983) Enuresis, sleepwalking and nightmares: an epidemiological survey in the Republic of San Marino. In: Guilleminault C, Lugaresi E (eds) Sleep/Wake Disorders: Natural History, Epidemiology and Long-Term Evolution. New York: Raven Press, pp 237–241
    Google Scholar
  16. Claes L, Del-Favero J, Ceulemans B, Lagae L, Van Broeckhoven C, De Jonghe P (2001) De novo mutations in the sodium-channel gene SCN1A cause severe myoclonic epilepsy of infancy. Am J Hum Genet 68:1327–1332
    CAS PubMed Google Scholar
  17. Claes L, Ceulemans B, Audenaert D, Smets K, Lofgren A, Del-Favero J, Ala- Mello S, Basel-Vanagaite L, Plecko B, Raskin S, Thiry P, Wolf NI, Van Broeckhoven C, De Jonghe P (2003) De novo SCN1A mutations are a major cause of severe myoclonic epilepsy of infancy. Hum Mutat 21:615–621
    PubMed Google Scholar
  18. Commission on Classification and Terminology of the International League Against Epilepsy (1989) Proposal for revised classification of epilepsies and epileptic syndromes. Epilepsia 30: 389–399
    Google Scholar
  19. Cossette P, Liu L, Brisebois K, Dong H, Lortie A, Vanasse M, Saint-Hilaire JM, Carmant L, Verner A, Lu WY, Wang YT, Rouleau GA (2002) Mutation of GABRA1 in an autosomal dominant form of juvenile myoclonic epilepsy. Nat Genet 31:184–189
    Article CAS Google Scholar
  20. Crasse MG, Barlow DH (1989) Nocturnal panic. J Nerv Ment Dis 177:160–167
    PubMed Google Scholar
  21. De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, Ballabio A, Wanke E, Casari G (2000) The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 26:275–276
    CAS PubMed Google Scholar
  22. Diaz-Otero F, Morales J, del Mar Quesada M, Martinez-Parra C, Gomez-Garre P, Serratosa JM (2001) A Spanish family with autosomal dominant nocturnal frontal lobe epilepsy and a mutation in the CHRNB2 gene. Epilepsia 42(Suppl 7):21
    Google Scholar
  23. Duga S, Asselta R, Bonati MT, Malcovati M, Dalprà L, Oldani A, Zucconi M, Ferini-Strambi L, Tenchini ML (2002) Mutational analysis of nicotinic acetylcholine receptor beta2 subunit gene (CHRNB2) in a representative cohort of Italian probands affected by autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 43:362–364
    Article CAS PubMed Google Scholar
  24. Escayg A, MacDonald BT, Meisler MH, Baulac S, Huberfeld G, An-Gourfinkel I, Brice A, LeGuern E, Moulard B, Chaigne D, Buresi C, Malafosse A (2000) Mutations of SCN1A, encoding a neuronal sodium channel, in two families with GEFS + 2. Nat Genet 24:343–345
    CAS PubMed Google Scholar
  25. Escayg A, De Waard M, Lee DD, Bichet D, Wolf P, Mayer T, Johnston J, Baloh R, Sander T, Meisler MH (2000) Coding and noncoding variation of the human calcium-channel beta(4)-subunit gene CACNB4 in patients with idiopathic generalized epilepsy and episodic ataxia. Am J Hum Genet 66:1531–1539
    Article CAS PubMed Google Scholar
  26. Everitt BJ, Robbins TW (1997) Central cholinergic systems and cognition. Annu Rev Psychol 48:649–684
    Article CAS PubMed Google Scholar
  27. Ferini-Strambi L, Bozzali M, Cercignani M, Oldani A, Zucconi M, Filippi M (2000) Magnetization transfer and diffusion-weighted imaging in nocturnal frontal lobe epilepsy. Neurology 54:2331–2333
    CAS PubMed Google Scholar
  28. Ferini-Strambi L, Zucconi M (2000) REM sleep behavior disorder. Clin Neurophysiol 111(Suppl 2):S136–S140
    PubMed Google Scholar
  29. Ferini-Strambi L, Oldani A (2003) Nocturnal frontal lobe epilepsy. Swiss Arch Neurol Psychiatry 154:391–399
    Google Scholar
  30. Fertig E, Lincoln A, Martinuzzi A, Mattson RH, Hisama FM (2003) Novel LGI1 mutation in a family with autosomal dominant partial epilepsy with auditory features. Neurology 60:1687–1690
    PubMed Google Scholar
  31. Figl A, Viseshakul N, Shafaee N, Forsayeth J, Cohen BN (1998) Two mutations linked to nocturnal frontal lobe epilepsy cause use-dependent potentiation of the nicotinic ACh response. J Physiol 513:655–670
    CAS PubMed Google Scholar
  32. Fusco L, Iani C, Faedda MT, Manfredi M, Vigevano S, Ambrosetto G (1990) Mesial frontal lobe epilepsy: a clinical entity not sufficiently described. J Epilepsy 3:123–135
    Google Scholar
  33. Gastaut H, Broughton RJ (1963) Paroxysmal psychological events and certain phases of sleep. Percept Mot Skills 17:362
    CAS PubMed Google Scholar
  34. Gastaut H, Broughton RJ (1965) A clinical and polygraphic study of episodic phenomena during sleep. In:Wortis J (ed) Recent Advances in Biology and Psychiatry. New York: Plenum Press 7:197–221
  35. Godbout R, Montplaisir J, Rouleau I (1985) Hypnogenic paroxysmal dystonia: epilepsy or sleep disorder? A case report. Clin Electroencephalogr 16:136–142
    CAS PubMed Google Scholar
  36. Harkin LA, Bowser DN, Dibbens LM, Singh R, Phillips F, Wallace RH, Richards MC, Williams DA, Mulley JC, Berkovic SF, Scheffer IE, Petrou S (2002) Truncation of the GABA(A)-receptor gamma2 subunit in a family with generalized epilepsy with febrile seizures plus. Am J Hum Genet 70:530–536
    Article CAS PubMed Google Scholar
  37. Haug K, Hallmann K, Rebstock J, Dullinger J, Muth S, Haverkamp F, Pfeiffer H, Rau B, Elger CE, Propping P, Heils A (2001) The voltage-gated sodium channel gene SCN2A and idiopathic generalized epilepsy. Epilepsy Res 47:243–246
    CAS PubMed Google Scholar
  38. Haug K, Warnstedt M, Alekov AK, Sander T, Ramirez A, Poser B, Maljevic S, Hebeisen S, Kubisch C, Rebstock J, Horvath S, Hallmann K, Dullinger JS, Rau B, Haverkamp F, Beyenburg S, Schulz H, Janz D, Giese B, Muller- Newen G, Propping P, Elger CE, Fahlke C, Lerche H, Heils A (2003) Mutations in CLCN2 encoding a voltage-gated chloride channel are associated with idiopathic generalized epilepsies. Nat Genet 33:527–532
    CAS PubMed Google Scholar
  39. Hayman M, Scheffer IE, Chinvarun Y, Berlangieri SU, Berkovic SF (1997) Autosomal dominant frontal lobe epilepsy: Demonstration of focal frontal onset and intrafamilial variation. Neurology 49:969–975
    CAS PubMed Google Scholar
  40. Heron SE, Crossland KM, Andermann E, Phillips HA, Hall AJ, Bleasel A, Shevell M, Mercho S, Seni MH, Guiot MC, Mulley JC, Berkovic SF, Scheffer IE (2002) Sodium-channel defects in benign familial neonatal-infantile seizures. Lancet 360:851–852
    Article CAS PubMed Google Scholar
  41. Hirose S, Iwata H, Akiyoshi H, Kobayashi K, Ito M, Wada K, Kaneko S, Mitsudome A (1999) A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology 53:1749–1753
    CAS PubMed Google Scholar
  42. Hirose S, Zenri F, Akiyoshi H, Fukuma G, Iwata H, Inoue T, Yonetani M, Tsutsumi M, Muranaka H, Kurokawa T, Hanai T, Wada K, Kaneko S, Mitsudome A (2000) A novel mutation of KCNQ3 (c0.925T⊸C) in a Japanese family with benign familial neonatal convulsions. Ann Neurol 47:822–826
    Article CAS PubMed Google Scholar
  43. Hirsch E, Sellal F, Maton B, Rumbach L, Marescaux C (1994) Nocturnal paroxysmal dystonia: a clinical form of focal epilepsy. Neurophysiol Clin 24:207–217
    CAS PubMed Google Scholar
  44. 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 AH, Pedley TA, Hauser WA, Ottman R, Gilliam TC (2002) Mutations in LGI1 cause autosomal-dominant partial epilepsy with auditory features. Nat Genet 30:335–341
    PubMed Google Scholar
  45. Kales A, Soldatos CR, Bixler EO, Ladda RL, Charney DS, Weber G, Schweitzer PK (1980) Hereditary factors in sleepwalking and night terrors. Br J Psychiatry 137:111–118
    CAS PubMed Google Scholar
  46. Kananura C,Haug K, Sander T, Runge U, Gu W, Hallmann K, Rebstock J,Heils A, Steinlein OK (2002) A splice-site mutation in GABRG2 associated with childhood absence epilepsy and febrile convulsions. Arch Neurol 59:1137–1141
    Article PubMed Google Scholar
  47. Kuryatov A, Gerzanich V, Nelson M, Olale F, Lindstrom J (1997) Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+permeability, conductance, and gating of human a4b2 nicotinic acetylcholine receptors. J Neurosc 17:9035–9047
    Google Scholar
  48. Lee BI, Lesser RP, Pippenger CE, Morris HH, Luders H, Dinner DS, Corrie WS, Murphy WF (1985) Familial paroxysmal hypnogenic dystonia. Neurology 35:1357–1360
    CAS PubMed Google Scholar
  49. Leniger T, Kananura C, Hufnagel A, Bertrand S, Bertrand D, Steinlein OK (2003) A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy. Epilepsia 44:981–985
    Article PubMed Google Scholar
  50. Lugaresi E, Cirignotta F (1981) Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome? Sleep 4:129–138
    CAS PubMed Google Scholar
  51. Lugaresi E, Cirignotta F, Montagna P (1986) Nocturnal paroxysmal dystonia. J Neurol Neurosurg Psychiatry 49:375–380
    CAS PubMed Google Scholar
  52. Matsushima N, Hirose S, Iwata H, Fukuma G, Yonetani M, Nagayama C, Hamanaka W, Matsunaka Y, Ito M, Kaneko S, Mitsudome A, Sugiyama H (2002) Mutation (Ser284Leu) of neuronal nicotinic acetylcholine receptor alpha 4 subunit associated with frontal lobe epilepsy causes faster desensitization of the rat receptor expressed in oocytes. Epilepsy Res 48:181–186
    PubMed Google Scholar
  53. Manford M, Fish DR, Shorvon SD (1996) An analysis of clinical seizure patterns and their localizing value in frontal and temporal lobe epilepsies. Brain 119:17–40
    PubMed Google Scholar
  54. Maselli RA, Rosenberg RS, Spire JP (1988) Episodic nocturnal wanderings in non-epileptic young patients. Sleep 11:156–161
    PubMed Google Scholar
  55. Mc Cormick DA, Bal T (1997) Sleep and arousal: thalamocortical mechanisms. Annu Rev Neurosci 20:185–215
    Article PubMed Google Scholar
  56. McLellan A, Phillips HA, Rittey C, Kirkpatrick M, Mulley JC, Goudie D, Stephenson JB, Tolmie J, Scheffer IE, Berkovic SF, Zuberi SM (2003) Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 44:613–617
    Google Scholar
  57. Meierkord H, Fish DR, Smith SJ, Scott CA, Shorvon SD,Marsden CD (1992) Is nocturnal paroxysmal dystonia a form of frontal lobe epilepsy? Comment in:Mov Disord 1993; 8:252–253. Mov Disord 7:38–42
    CAS Google Scholar
  58. Montagna P, Sforza E, Tinuper P, Cirignotta F, Lugaresi E (1990) Paroxysmal arousals during sleep. Neurology 40:1063–1066
    CAS PubMed Google Scholar
  59. Montagna P (1992) Nocturnal paroxysmal dystonia and nocturnal wandering. Neurology 6(Suppl):61–67
    Google Scholar
  60. Morante-Redolat JM, Gorostidi-Pagola A, Piquer-Sirerol S, Saenz A, Poza JJ, Galan J, Gesk S, Sarafidou T, Mautner VF, Binelli S, Staub E, Hinzmann B, French L, Prud’homme JF, Passarelli D, Scannapieco P, Tassinari CA, Avanzini G, Marti-Masso JF, Kluwe L, Deloukas P, Moschonas NK, Michelucci R, Siebert R, Nobile C, Perez-Tur J, Lopez de Munain A (2002) Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy. Hum Mol Genet 11:1119–1128
    Google Scholar
  61. Motamedi GK, Lesser RP (2002) Autosomal dominant nocturnal frontal lobe epilepsy. Adv Neurol 89:463–473
    PubMed Google Scholar
  62. Nakayama J, Fu YH, Clark AM, Nakahara S, Hamano K, Iwasaki N, Matsui A, Arinami T, Ptacek LJ (2002) A nonsense mutation of the MASS1 gene in a family with febrile and afebrile seizures. Ann Neurol 52:654–657
    CAS PubMed Google Scholar
  63. Nakken KO, Magnusson A, Steinlein O (1999) Autosomal dominant NFLE: An electroclinical study of a Norwegian family with ten affected members. Epilepsia 40:88–92
    CAS PubMed Google Scholar
  64. Nobili L, Cossu M, Mai R, Tassi L, Cardinale F, Castana L, Citterio A, Sartori I, Lo Russo G, Francione S (2004) Sleep-related hyperkinetic seizures of temporal lobe origin. Neurology 62: 482–485
    CAS PubMed Google Scholar
  65. Noebels JL (1996) Targeting epilepsy genes. Neuron 16:241–244
    Article CAS Google Scholar
  66. Ohmori I, Ouchida M, Ohtsuka Y, Oka E, Shimizu K (2002) Significant correlation of the SCN1A mutations and severe myoclonic epilepsy in infancy. Biochem Biophys Res Commun 295: 17–23
    CAS PubMed Google Scholar
  67. Oldani A, Zucconi M, Ferini-Strambi L, Bizzozero D, Smirne S (1996) Autosomal dominant nocturnal frontal lobe epilepsy: electroclinical picture. Epilepsia 37:964–976
    Google Scholar
  68. Oldani A, Zucconi M, Asselta R, Modugno M, Bonati MT, Dalpra L, Malcovati M, Tenchini ML, Smirne S, Ferini- Strambi L (1998) Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. Brain 121:205–223
    Article PubMed Google Scholar
  69. Oswald J (1989) Episodic nocturnal wandering. Sleep 12:186–187
    CAS PubMed Google Scholar
  70. Paterson D,Nordberg A (2000) Neuronal nicotinic receptors in the human brain. Prog Neurobiol 61:75–111
    Article CAS PubMed Google Scholar
  71. Pedley TA, Guilleminault C (1977) Episodic nocturnal wanderings responsive to anticonvulsant drug therapy. Ann Neurol 2:30–35
    CAS PubMed Google Scholar
  72. Peled R, Lavie P (1986) Paroxysmal awakenings from sleep associated with excessive daytime somnolence.A form of nocturnal epilepsy. Neurology 36:95–98
    CAS PubMed Google Scholar
  73. Phillips HA, Scheffer IE, Crossland KM, Bhatia KP, Fish DR, Marsden CD, Howell SJ, Stephenson JB, Tolmie J, Plazzi G, Eeg-Olofsson O, Singh R, Lopes-Cendes I, Andermann E, Andermann F, Berkovic SF,Mulley JC (1998) Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet 63:1108–1116
    Article CAS PubMed Google Scholar
  74. Phillips HA, Marini C, Scheffer IE, Sutherland GR, Mulley JC, Berkovic SF (2000) A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol 48:264–267
    CAS PubMed Google Scholar
  75. Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron SE, Scheffer IE, Sutherland GR, Berkovic SF, Bertrand D, Mulley JC (2001) CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet 68:225–231
    Article CAS PubMed Google Scholar
  76. Picard F, Baulac S, Kahane P, Hirsch E, Sebastianelli R, Thomas P, Vigevano F, Genton P, Guerrini R, Gericke CA, An I, Rudolf G, Herman A, Brice A, Marescaux C, LeGuern E (2000) Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. Brain 123:1247–1262
    Article PubMed Google Scholar
  77. Plazzi G, Tinuper P, Montagna P, Provini P, Lugaresi E (1995) Epileptic nocturnal wanderings. Sleep 18:749–756
    CAS PubMed Google Scholar
  78. Plazzi G, Montagna P, Provini F, Lugaresi E (1998) Sudden arousals from slow-wave sleep and panic disorder. Sleep 21:548
    CAS PubMed Google Scholar
  79. Provini F, Plazzi G, Tinuper P, Vandi S, Lugaresi E, Montagna P (1999) Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases. Brain 122:1017–1031
    Article PubMed Google Scholar
  80. Provini F, Plazzi G,Montagna P, Lugaresi E (2000) The wide clinical spectrum of nocturnal frontal lobe epilepsy. Sleep Med Rev 4:375–386
    Article PubMed Google Scholar
  81. Raggenbass M, Bertrand D (2002) Nicotinic receptors in circuit excitability and epilepsy. J Neurobiol 53:580–589
    Article CAS PubMed Google Scholar
  82. Rodrigues-Pinguet N, Jia L, Li M, Figl A, Klaassen A, Truong A, Lester HA, Cohen BN (2003) Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian α4β2 acetylcholine response. J Physiol 550:11–26
    Article PubMed Google Scholar
  83. Role LW, Berg DK (1996) Nicotinic receptors in the development and modulation of CNS synapses. Neuron 16:1077–1085
    Article CAS PubMed Google Scholar
  84. Rozycka A, Skorupska E, Kostyrko A, Trzeciak WH (2003) Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia 44:1113–1117
    Article CAS PubMed Google Scholar
  85. Rusakov DA, Fine A (2003) Extracellular Ca2+ depletion contributes to fast activity-dependent modulation of synaptic transmission in the brain. Neuron 37:287–297
    Article CAS PubMed Google Scholar
  86. Saenz A, Galan J, Caloustian C, Lorenzo F, Marquez C, Rodriguez N, Jimenez MD, Poza JJ, Cobo AM,Grid D, Prud’homme JF, Lopez de Munain A (1999) Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. Arch Neurol 56:1004–1009
    Article CAS PubMed Google Scholar
  87. Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR,Marsden CD, Andermann F, Andermann E, Desbiens R, Cendes F, Manson JI, Berkovic S (1994) Autosomal dominant frontal lobe epilepsy misdiagnosed as sleep disorder. Lancet 343:515–517
    Article CAS PubMed Google Scholar
  88. Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann E, Andermann F, Desbiens R,Keene D, Cendes F, Manson JI, Berkovic S (1995) Autosomal dominant nocturnal frontal lobe epilepsy: a distinctive clinical disorder. Brain 118:61–73
    PubMed Google Scholar
  89. Sforza E, Montagna P, Rinaldi R, Tinuper P, Cerullo A, Cirignotta F, Lugaresi E (1993) Paroxysmal periodic motor attacks during sleep: clinical and polygraphic features. Electroencephalogr Clin Neurophysiol 86:161–166
    CAS PubMed Google Scholar
  90. Sillanpaa M,Koskenvuo M, Romanov K,Kaprio J (1991) Genetic factors in epileptic seizures: evidence from a large twin population. Acta Neurol Scand 84:523–526
    CAS PubMed Google Scholar
  91. Singh NA, Charlier C, Stauffer D, DuPont BR, Leach RJ, Melis R, Ronen GM, Bjerre I, Quattlebaum T, Murphy JV, McHarg ML, Gagnon D, Rosales TO, Peiffer A, Anderson VE, Leppert M (1998) A novel potassium channel gene, KCNQ2, is mutated in an inherited epilepsy of newborns. Nat Genet 18:25–29
    CAS PubMed Google Scholar
  92. Steinlein OK,Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 11:201–203
    CAS PubMed Google Scholar
  93. Steinlein OK, Magnusson A, Stoodt J, Bertrand S, Weiland S, Berkovic SF, Nakken KO, Propping P, Bertrand D (1997) An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet 6:943–947
    Article CAS PubMed Google Scholar
  94. Steinlein OK, Stoodt J, Mulley J, Berkovic S, Scheffer IE, Brodtkorb E (2000) Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. Epilepsia 41:529–535
    CAS PubMed Google Scholar
  95. Steinlein OK (2002) Channelopathies can cause epilepsy in man. Eur J Pain 6:27–34
    Article PubMed Google Scholar
  96. Sugawara T, Mazaki-Miyazaki E, Ito M, Nagafuji H, Fukuma G, Mitsudome A, Wada K, Kaneko S, Hirose S, Yamakawa K (2001) Nav1.1 mutations cause febrile seizures associated with afebrile partial seizures. Neurology 57:703–705
    CAS PubMed Google Scholar
  97. Sugawara T, Mazaki-Miyazaki E, Fukushima K, Shimomura J, Fujiwara T, Hamano S, Inoue Y, Yamakawa K (2002) Frequent mutations of SCN1A in severe myoclonic epilepsy in infancy. Neurology 58:1122–1124
    CAS PubMed Google Scholar
  98. Sutor B, Zolles G (2001) Neuronal nicotinic acetylcholine receptors and autosomal dominant nocturnal frontal lobe epilepsy: a critical review. Pflugers Arch 442:642–651
    Article CAS PubMed Google Scholar
  99. Tenchini ML, Duga S, Bonati MT, Asselta R, Oldani A, Zucconi M, Malcovati M, Dalpra L, Ferini-Strambi L (1999) SER252PHE and 776INS3 mutations in the CHRNA4 gene are rare in the Italian ADNFLE population. Sleep 22:637–639
    CAS PubMed Google Scholar
  100. Tharp BR (1972) Orbital frontal seizures. An unique electroencephalographic and clinical syndrome. Epilepsia 13:627–642
    CAS PubMed Google Scholar
  101. Tinuper P, Cerullo A, Cirignotta F, Cortelli P, Lugaresi E, Montagna P (1990) Nocturnal paroxysmal dystonia with short-lasting attacks: three cases with evidence for an epileptic frontal lobe origin of seizures. Epilepsia 31:549–556
    CAS PubMed Google Scholar
  102. Tricario D, Barbieri M, Conte Camerino D (2000) Acetazolamide opens the muscular KCa2+ channel: a novel mechanism of action that may explain the therapeutic effect of the drug in hypokalemic periodic paralysis. Ann Neurol 48:304–312
    Article PubMed Google Scholar
  103. Varadkar S, Duncan SJ, Cross H (2003) Acetazolamide and Autosomal Dominant Frontal Lobe Epilepsy. Epilepsia 44:986–987
    Article PubMed Google Scholar
  104. Vigevano F, Fusco L (1993) Hypnic tonic postural seizures in healthy children provide evidence for a partial epileptic syndrome of frontal lobe origin. Epilepsia 34:110–119
    CAS PubMed Google Scholar
  105. Wallace RH, Wang DW, Singh R, Scheffer IE, George AL Jr, Phillips HA, Saar K, Reis A, Johnson EW, Sutherland GR, Berkovic SF, Mulley JC (1998) Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta1 subunit gene SCN1B. Nat Genet 19:366–370
    Article CAS PubMed Google Scholar
  106. Wallace RH, Scheffer IE, Barnett S, Richards M,Dibbens L, Desai RR, Lerman-Sagie T, Lev D, Mazarib A, Brand N, Ben-Zeev B, Goikhman I, Singh R, Kremmidiotis G, Gardner A, Sutherland GR, George AL Jr, Mulley JC, Berkovic SF (2001) Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus. Am J Hum Genet 68:859–865
    Article CAS PubMed Google Scholar
  107. Wallace RH, Scheffer IE, Parasivam G, Barnett S,Wallace GB, Sutherland GR, Berkovic SF,Mulley JC (2002) Generalized epilepsy with febrile seizures plus: mutation of the sodium channel subunit SCN1B. Neurology 58:1426–1429
    CAS PubMed Google Scholar
  108. Waterman K, Purves SJ, Kosaka B, Strauss E, Wada JA (1987) An epileptic syndrome caused by mesial frontal lobe seizure foci. Neurology 37:577–582
    CAS PubMed Google Scholar
  109. Weiland S, Bertrand D, Leonard S (2000) Neuronal nicotinic acetylcholine receptors: from the gene to the disease. Behav Brain Res 113:43–56
    Article CAS PubMed Google Scholar
  110. Williamson PD, Spencer DD, Spencer SS, Novelly RA, Mattson RH (1985) Complex partial seizures of frontal lobe origin. Ann Neurol 18:497–504
    CAS PubMed Google Scholar
  111. Willoughby JO, Pope KJ, Eaton V (2003) Nicotine as an antiepileptic agent in ADNFLE: an N-of-one study. Epilepsia 44:1238–1240
    CAS PubMed Google Scholar
  112. Won Cho Y, Motamedi GK, Lesser RP, Il Sohn S, Geun Lim J, Lee H, Doe Yi S (2002) Autosomal dominant nocturnal partial epilepsy (ADNPE) in a Korean kindred. Epilepsia 42(Suppl 7):21
    Google Scholar
  113. Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JP, Kullmann DM, Hanna MG (1999) A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy. Brain 122:817–825
    Article PubMed Google Scholar

Download references