Nocturnal frontal lobe epilepsy and the acetylcholine receptor

Neurologist

Volumn 18, Issue 6, 2012, Pages 343-349

  Ferini Strambi, Luigi ^a   Sansoni, Veronica ^b   Combi, Romina ^b  

^a VITA SALUTE SAN RAFFAELE UNIVERSITY   (Italy)

^b UNIVERSITY OF MILANO BICOCCA   (Italy)

Author keywords

corticotropin releasing hormone; genetics; nicotinic acetylcholine receptor; nocturnal frontal lobe epilepsy; parasomnias

Indexed keywords

ANTICONVULSIVE AGENT; CARBAMAZEPINE; CHOLINERGIC RECEPTOR; CORTICOTROPIN RELEASING FACTOR; NICOTINE PATCH; NICOTINIC RECEPTOR; OXCARBAZEPINE; RECEPTOR SUBUNIT; TOPIRAMATE;

AUTOSOMAL DOMINANT INHERITANCE; AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; BEDTIME DOSAGE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; FAMILY HISTORY; FRONTAL LOBE EPILEPSY; GAIN OF FUNCTION MUTATION; GENETIC ANALYSIS; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HORMONE BLOOD LEVEL; HUMAN; MOTOR DYSFUNCTION; NOCTURNAL FRONTAL LOBE EPILEPSY; NONREM SLEEP; PARASOMNIA; PAROXYSMAL NON EPILEPTIC SLEEP DISORDER; POLYSOMNOGRAPHY; PRIORITY JOURNAL; PROMOTER REGION; REVIEW; SLEEP DISORDER; SYMPTOMATOLOGY; VIDEOPOLYSOMNOGRAPHY;

EPILEPSY, FRONTAL LOBE; HUMANS; MUTATION; NEUROLOGIC EXAMINATION; RECEPTORS, CHOLINERGIC; SLEEP DISORDERS; VIDEOTAPE RECORDING;

EID: 84869837265     PISSN: 10747931     EISSN: None     Source Type: Journal    
DOI: 10.1097/NRL.0b013e31826a99b8     Document Type: Review

References (65)

1. Lugaresi E, Cirignotta F, Montagna P. Nocturnal paroxysmal dystonia. J Neurol Neurosurg Psychiatry. 1986;49:375-380.
2. Tinuper P, Cerullo A, Cirignotta F, et al. Nocturnal paroxysmal dystonia with short-lasting attacks: Three cases with evidence for an epileptic frontal lobe origin of seizures. Epilepsia. 1990;31: 549-556.
3. Oldani A, Zucconi M, Asselta R, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. Brain. 1998;121(PT2):205- 223.
4. Provini F, Plazzi G, Tinuper P, et al. Nocturnal frontal lobe epilepsy. A clinical and polygraphic overview of 100 consecutive cases. Brain. 1999;122(PT6):1017-1031.
5. Zucconi M, Ferini-Strambi L. NREM parasomnias: Arousal disorders and differentiation from nocturnal frontal lobe epilepsy. Clin Neurophysiol. 2000;111(SUPPL2):S129-S135.
6. Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain. 1995;118(PT1):61-73.
7. Oldani A, Ferini-Strambi L, Zucconi M. Symptomatic nocturnal frontal lobe epilepsy. Seizure. 1998;7:341-343.
8. Nobili L, Cardinale F, Magliola U, et al. Taylor's focal cortical dysplasia increases the risk of sleep-Related epilepsy. Epilepsia. 2009;50:2599-2604.
9. Vignatelli L, Bisulli F, Provini F, et al. Interobserver reliability of video recording in the diagnosis of nocturnal frontal lobe seizures. Epilepsia. 2007;48:1506-1511.
10. Parrino L, Halasz P, Tassinari CA, et al. CAP, epilepsy and motor events during sleep: The unifying role of arousal. Sleep Med Rev. 2006;10:267-285.
11. Nobili L, Francione S, Mai R, et al. Nocturnal frontal lobe epilepsy: Intracerebral recordings of paroxysmal motor attacks with increasing complexity. Sleep. 2003;26:883-886.
12. Tinuper P, Provini F, Bisulli F, et al. Movement disorders in sleep: Guidelines for differentiating epileptic from non-Epileptic motor phenomena arising from sleep. Sleep Med Rev. 2007;11:255-267.
13. Derry CP, Harvey AS, Walker MC, et al. NREM arousal parasomnias and their distinction from nocturnal frontal lobe epilepsy: A video EEG analysis. Sleep. 2009;32:1637-1644.
14. Tassinari CA, Cantalupo G, Hogl B, et al. Neuroethological approach to frontolimbic epileptic seizures and parasomnias: The same central pattern generators for the same behaviours. Rev Neurol. 2009;165:762-768.
15. Derry CP, Davey M, Johns M, et al. Distinguishing sleep disorders from seizures: Diagnosing bumps in the night. Arch Neurol. 2006;63:705-709.
16. Manni R, Terzaghi M, Repetto A. The FLEP scale in diagnosing nocturnal frontal lobe epilepsy, NREM and REM parasomnias: Data from a tertiary sleep and epilepsy unit. Epilepsia. 2008; 49:1581-1585.
17. Oldani A, Manconi M, Zucconi M, et al. Topiramate treatment for nocturnal frontal lobe epilepsy. Seizure. 2006;15:649-652.
18. Raju GP, Sarco DP, Poduri A, et al. Oxcarbazepine in children with nocturnal frontal-lobe epilepsy. Pediatr Neurol. 2007; 37:345-349.
19. Willoughby JO, Pope KJ, Eaton V. Nicotine as an antiepileptic agent in ADNFLE: An N-ofone study. Epilepsia. 2003;44: 1238-1240.
20. Brodtkorb E, Picard F. Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy. Epilepsy Behav. 2006;9:515-520.
21. Nobili L, Francione S, Mai R, et al. Surgical treatment of drugresistant nocturnal frontal lobe epilepsy. Brain. 2007;130: 561-573.
22. Combi R, Dalpra L, Tenchini ML, et al. Autosomal dominant nocturnal frontal lobe epilepsy - A critical overview. J Neurol. 2004;251:923-934.
23. Picard F, Baulac S, Kahane P, et al. Dominant partial epilepsies. A clinical, electrophysiological and genetic study of 19 European families. Brain. 2000;123(PT6):1247-1262.
24. Steinlein OK, Mulley JC, Propping P, et al. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 1995;11:201-203.
25. Marini C, Guerrini R. The role of the nicotinic acetylcholine receptors in sleep-Related epilepsy. Biochem Pharmacol. 2007; 74:1308-1314.
26. Aridon P, Marini C, Di Resta C, et al. Increased sensitivity of the neuronal nicotinic receptor alpha 2 subunit causes familial epilepsy with nocturnal wandering and ictal fear. Am J Hum Genet. 2006;79:342-350.
27. McLellan A, Phillips HA, Rittey C, et al. Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia. 2003;44:613-617.
28. Saenz A, Galan J, Caloustian C, et al. Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. Arch Neurol. 1999;56:1004-1009.
29. Steinlein OK, Stoodt J, Mulley J, et al. Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. Epilepsia. 2000;41:529-535.
30. Cho YW, Motamedi GK, Laufenberg I, et al. A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. Arch Neurol. 2003;60:1625-1632.
31. Hirose S, Iwata H, Akiyoshi H, et al. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology. 1999;53:1749-1753.
32. Phillips HA, Marini C, Scheffer IE, et al. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol. 2000;48: 264-267.
33. Rozycka A, Skorupska E, Kostyrko A, et al. Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia. 2003;44: 1113-1117.
34. Sansoni A, Nobili L, Proserpio P, et al. A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy. J Sleep Res. 2012;3:352-353.
35. Steinlein OK, Magnusson A, Stoodt J, et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet. 1997;6:943-947.
36. Leniger T, Kananura C, Hufnagel A, et al. A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy. Epilepsia. 2003;44:981-985.
37. Chen Y, Wu L, Fang Y, et al. A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. Epilepsy Res. 2009;83:152-156.
38. De Fusco M, Becchetti A, Patrignani A, et al. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet. 2000;26:275-276.
39. Diaz-Otero F, Morales J, Del Mar Quesada M, et al. A Spanish family with autosomal dominant nocturnal frontal lobe epilepsy and a mutation in the CHRNB2 gene. Epilepsia. 2001;42:21.
40. Phillips HA, Favre I, Kirkpatrick M, et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet. 2001;68: 225-231.
41. Hoda JC, Gu W, Friedli M, et al. Human nocturnal frontal lobe epilepsy: Pharmocogenomic profiles of pathogenic nicotinic acetylcholine receptor beta-subunit mutations outside the ion channel pore. Mol Pharmacol. 2008;74:379-391.
42. Bertrand D, Elmslie F, Hughes E, et al. The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis. 2005;20:799-804.
43. Cho YW, Yi SD, Lim JG, et al. Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. Epil Behav. 2008;13:361-365.
44. Liu H, Lu C, Li Z, et al. The identification of a novel mutation of nicotinic acetylcholine receptor gene CHRNB2 in a Chinese patient: Its possible implication in non-familial nocturnal frontal lobe epilepsy. Epilepsy Res. 2011;95:94-99.
45. Phillips HA, Scheffer IE, Crossland KM, et al. Autosomal dominant nocturnal frontal-lobe epilepsy: Genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet. 1998; 63:1108-1116.
46. Combi R, Dalpra L, Malcovati M, et al. Evidence for a fourth locus for autosomal dominant nocturnal frontal lobe epilepsy. Brain Res Bull. 2004;63:353-359.
47. Combi R, Ferini-Strambi L, Montruccoli A, et al. Two new putative susceptibility loci for ADNFLE. Brain Res Bull. 2005;67:257-263.
48. Combi R, Ferini-Strambi L, Tenchini ML. CHRNA2 mutations are rare in the NFLE population: Evaluation of a large cohort of Italian patients. Sleep Med. 2009;10:139-142.
49. De Marco EV, Gambardella A, Annesi F, et al. Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsy Res. 2007;74:70-73.
50. Combi R, Dalpra L, Ferini-Strambi L, et al. Frontal lobe epilepsy and mutations of the corticotropin-Releasing hormone gene. Ann Neurol. 2005;58:899-904.
51. Combi R, Ferini-Strambi L, Tenchini ML. Compound heterozygosity with dominance in the Corticotropin Releasing Hormone (CRH) promoter in a case of nocturnal frontal lobe epilepsy. J Sleep Res. 2008;17:361-362.
52. Gotti C, Clementi F, Fornari A, et al. Structural and functional diversity of native brain neuronal nicotinic receptors. Biochem Pharmacol. 2009;78:703-711.
53. Steinlein OK, Bertrand D. Nicotinic receptor channelopathies and epilepsy. Pflugers Arch. 2010;460:495-503.
54. Rodrigues-Pinguet N, Jia L, Li M, et al. Five ADNFLE mutations reduce the Ca2+ dependence of the mammalian alpha4beta2 acetylcholine response. J Physiol. 2003;550(PT1):11-26.
55. Rodrigues-Pinguet NO, Pinguet TJ, Figl A, et al. Mutations linked to autosomal dominant nocturnal frontal lobe epilepsy affect allosteric Ca2+ activation of the alpha 4 beta 2 nicotinic acetylcholine receptor. Mol Pharmacol. 2005;68:487-501.
56. Klaassen A, Glykys J, Maguire J, et al. Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy. Proc Natl Acad Sci. 2006;103:19152-19157.
57. Teper Y, Whyte D, Cahir E, et al. Nicotine-Induced dystonic arousal complex in a mouse line harboring a human autosomaldominant nocturnal frontal lobe epilepsy mutation. J Neurosci. 2007;27:10128-10142.
58. Manfredi I, Zani AD, Rampoldi L, et al. Expression of mutant beta2 nicotinic receptors during development is crucial for epileptogenesis. Hum Mol Genet. 2009;18:1075-1088.
59. Terzano MG, Parrino L. Evaluation of EEG cyclic alternating pattern during sleep in insomniacs and controls under placebo and acute treatment with zolpidem. Sleep. 1992;15:64-70.
60. Kimura M, Muller-Preuss P, Lu A, et al. Conditional corticotropinreleasing hormone overexpression in the mouse forebrain enhances rapid eye movement sleep. Mol Psychiatry. 2010;15:154-165.
61. Antonijevic IA, Murck H, Frieboes R, et al. Hyporesponsiveness of the pituitary to CRH during slow wave sleep is not mimicked by systemic GHRH. Neuroendocrinology. 1999;69:88-96.
62. Picard F, Megevand P, Minotti L, et al. Intracerebral recordings of nocturnal hyperkinetic seizures: Demonstration of a longer duration of the pre-seizure sleep spindle. Clin Neurophysiol. 2007; 118:928-939.
63. Crespel A, Baldy-Moulinier M, Coubes P. The relationship between sleep and epilepsy in frontal and temporal lobe epilepsies: Practical and physiopathologic considerations. Epilepsia. 1998;39: 150-157.
64. Nakamura M, Uchida S, Maehara T, et al. Sleep spindles in human prefrontal cortex: An electrocorticographic study. Neurosci Res. 2003;45:419-427.
65. Baram TZ, Schultz L. Corticotropin-Releasing hormone is a rapid and potent convulsant in the infant rat. Brain Res Dev Brain Res. 1991;61:97-101.