Nocturnal frontal lobe epilepsy

Current Neurology and Neuroscience Reports

Volumn 14, Issue 2, 2014, Pages

  Nobili, Lino ^a,b   Proserpio, Paola ^a   Combi, Romina ^c   Provini, Federica ^d,e   Plazzi, Giuseppe ^d,e   Bisulli, Francesca ^d,e   Tassi, Laura ^a   Tinuper, Paolo ^d,e  

^a OSPEDALE NIGUARDA CA GRANDA   (Italy)

^b CNR   (Italy)

^c UNIVERSITY OF MILANO BICOCCA   (Italy)

^d IRCCS ISTITUTO DELLE SCIENZE NEUROLOGICHE DI BOLOGNA   (Italy)

^e UNIVERSITY OF BOLOGNA   (Italy)

Author keywords

Autosomal nocturnal frontal lobe epilepsy; Focal cortical dysplasia; Nocturnal frontal lobe epilepsy; Parasomnias; Sleep related epilepsy

Indexed keywords

ACETAZOLAMIDE; CARBAMAZEPINE; TOPIRAMATE;

ADD ON THERAPY; ARTICLE; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE SEVERITY; DOSE RESPONSE; DRUG EFFECT; ELECTROENCEPHALOGRAPHY; EPILEPTOGENESIS; FRONTAL LOBE EPILEPSY; GENE LOCATION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE PHENOTYPE CORRELATION; HUMAN; LOW DRUG DOSE; NOCTURNAL FRONTAL LOBE EPILEPSY; NONHUMAN; NUCLEOTIDE SEQUENCE; PARASOMNIA; SEIZURE; SLEEP QUALITY; SLEEP WALKING; TREATMENT DURATION; WAKEFULNESS; ANIMAL; GENETICS; REVIEW; SLEEP DISORDER;

ANIMALS; EPILEPSY, FRONTAL LOBE; HUMANS; SLEEP DISORDERS;

EID: 84891549508     PISSN: 15284042     EISSN: 15346293     Source Type: Journal    
DOI: 10.1007/s11910-013-0424-6     Document Type: Article

References (108)

1. 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;39:150-7. (Pubitemid 28074350)
2. Herman ST, Walczak TS, Bazil CW. Distribution of partial seizures during the sleep-wake cycle: differences by seizure onset site. Neurology. 2001;56:1453-9. (Pubitemid 32532256)
3. ZucconiM, Ferini-Strambi L. NREM parasomnias: arousal disorders and differentiation from nocturnal frontal lobe epilepsy. Clin Neurophysiol. 2000;111 Suppl 2:S129-35.
4. Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann F, et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet. 1994;343:515-7. (Pubitemid 24062287)
5. Zucconi M, Oldani A, Ferini-Strambi L, Bizzozero D, Smirne S. Nocturnal paroxysmal arousals with motor behaviors during sleep: frontal lobe epilepsy or parasomnia? Clin Neurophysiol. 1997;14:513-22. (Pubitemid 28247078)
6. Vignatelli L, Bisulli F, Provini F, Naldi I, Pittau F, Zaniboni A. Interobserver reliability of video recording in the diagnosis of nocturnal frontal lobe seizures. Epilepsia. 2007;48:1506-11. (Pubitemid 47245806)
7. Bisulli F, Vignatelli L, Provini F, Lugaresi E, Tinuper P. Parasomnias and nocturnal frontal lobe epilepsy (NFLE): lights and shadows - controversial points in the differential diagnosis. Sleep Med. 2011;12 Suppl 2:S27-32.
8. Nobili L, Cossu M, Mai R, Tassi L, Cardinale F, Castana L, et al. Sleep-related hyperkinetic seizures of temporal lobe origin. Neurology. 2004;62:482-5. (Pubitemid 38200867)
9. Ryvlin P, Minotti L, Demarquay G, Hirsch E, Arzimanoglou A, Hoffman D, et al. Nocturnal hypermotor seizures, suggesting frontal lobe epilepsy, can originate in the insula. Epilepsia. 2006;47:755-65.
10. Nobili L, Francione S, Cardinale F, Lo RG. Epileptic nocturnal wanderings with a temporal lobe origin: a stereoelectroencephalographic study. Sleep. 2002;25:669-71. (Pubitemid 34977506)
11. Oldani A, Zucconi M, Asselta R, Modugno M, Bonati MT, Dalpra L, 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;121:205-23. (Pubitemid 28075798)
12. Provini F, Plazzi G, Tinuper P, Vandi S, Lugaresi E, Montagna P. Nocturnal frontal lobe epilepsy: a clinical and polygraphic overview of 100 consecutive cases. Brain. 1999;122:1017-31. (Pubitemid 29533119)
13. Nobili L, Francione S, Mai R, Cardinale F, Castana L, Tassi L, et al. Surgical treatment of drug-resistant nocturnal frontal lobe epilepsy. Brain. 2007;130:561-73. (Pubitemid 46181108)
14. De Marco EV, Gambardella A, Annesi F, Labate A, Carrideo S, Forabosco P, et al. Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsy Res. 2007;74:70-3. (Pubitemid 46420763)
15. Cho YW, Motamedi GK, Laufenberg I, Sohn SI, Lim JG, Lee H, et al. A Korean kindred with autosomal dominant nocturnal frontal lobe epilepsy and mental retardation. Arch Neurol. 2003;60:1625-32.
16. •• Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, et al. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 2012;44:1188-90. This study identified a new gene, encoding a sodium-gated potassium channel subunit, causing severe autosomal dominant nocturnal frontal lobe epilepsy. The mutations were identified in families and in a sporadic case. Patients with this mutation were not only affected by severe nocturnal focal seizures, but also showed intellectual and or psychiatric disability. The identification of this new gene has important implications for genetic counselling and for the understanding of the spectrum of epilepsy disorders.
17. Thomas RH, King WH, Johnston JA, Smith PE. Awake seizures after pure sleep-related epilepsy: a systematic review and implications for driving law. J Neurol Neurosurg Psychiatry. 2010;81:130-5.
18. Derry CP, Duncan S. Sleep and epilepsy. Epilepsy Behav. 2013;26:394-404.
19. Yaqub BA, Waheed G, Kabiraj MM. Nocturnal epilepsies in adults. Seizure. 1997;6:145-9. (Pubitemid 27220022)
20. Fernandez LB, Salas-Puig J. Pure sleep seizures: risk of seizures while awake. Epileptic Disord. 2007;9:65-70. (Pubitemid 46396678)
21. Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann E, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain. 1995;118:61-73.
22. 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. Nat Genet. 1995;10:117-8.
23. Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, 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;11:201-3.
24. Steinlein OK, Magnusson A, Stoodt J, Bertrand S, Weiland S, Berkovic SF, et al. An insertion mutation of the CHRNA4 gene in a family with autosomal dominant nocturnal frontal lobe epilepsy. Hum Mol Genet. 1997;6:943-7. (Pubitemid 27239081)
25. Kuryatov A, Gerzanich V, Nelson M, Olale F, Lindstrom J. Mutation causing autosomal dominant nocturnal frontal lobe epilepsy alters Ca2+ permeability, conductance, and gating of human alpha4beta2 nicotinic acetylcholine receptors. J Neurosci. 1997;17:9035-47. (Pubitemid 27498431)
26. Weiland S, Witzemann V, Villarroel A, Propping P, Steinlein O. An amino acid exchange in the second transmembrane segment of a neuronal nicotinic receptor causes partial epilepsy by altering its desensitization kinetics. FEBS Lett. 1996;398:91-6. (Pubitemid 26400348)
27. Saenz A, Galan J, Caloustian C, Lorenzo F, Marquez C, Rodriguez N, et al. Autosomal dominant nocturnal frontal lobe epilepsy in a Spanish family with a Ser252Phe mutation in the CHRNA4 gene. Arch Neurol. 1999;56:1004-9. (Pubitemid 29374819)
28. Steinlein OK, Stoodt J, Mulley J, Berkovic S, Scheffer IE, Brodtkorb E. Independent occurrence of the CHRNA4 Ser248Phe mutation in a Norwegian family with nocturnal frontal lobe epilepsy. Epilepsia. 2000;41:529-35. (Pubitemid 30253424)
29. McLellan A, Phillips HA, Rittey C, Kirkpatrick M, Mulley JC, Goudie D, et al. Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia. 2003;44:613-7.
30. Hirose S, Iwata H, Akiyoshi H, Kobayashi K, Ito M, Wada K, et al. A novel mutation of CHRNA4 responsible for autosomal dominant nocturnal frontal lobe epilepsy. Neurology. 1999;53:1749-53. (Pubitemid 29530350)
31. Phillips HA, Marini C, Scheffer IE, Sutherland GR, Mulley JC, Berkovic SF. A de novo mutation in sporadic nocturnal frontal lobe epilepsy. Ann Neurol. 2000;48:264-7. (Pubitemid 30617049)
32. SansoniV, Nobili L, Proserpio P, Ferini-Strambi L, Combi R. A de novo mutation in an Italian sporadic patient affected by nocturnal frontal lobe epilepsy. J Sleep Res. 2012;21:352-3.
33. Rozycka A, Skorupska E, Kostyrko A, Trzeciak WH. Evidence for S284L mutation of the CHRNA4 in a white family with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia. 2003;44:1113-7. (Pubitemid 36959320)
34. Ito M, Kobayashi K, Fujii T, Okuno T, Hirose S, Iwata H, et al. Electroclinical picture of autosomal dominant nocturnal frontal lobe epilepsy in a Japanese family. Epilepsia. 2000;41:52-8. (Pubitemid 30036855)
35. Leniger T, Kananura C, Hufnagel A, Bertrand S, Bertrand D, Steinlein OK. A new Chrna4 mutation with low penetrance in nocturnal frontal lobe epilepsy. Epilepsia. 2003;44:981-5. (Pubitemid 36842192)
36. Chen Y, Wu L, Fang Y, He Z, Peng B, Shen Y, et al. A novel mutation of the nicotinic acetylcholine receptor gene CHRNA4 in sporadic nocturnal frontal lobe epilepsy. Epilepsy Res. 2009;83:152-6.
37. Magnusson A, Stordal E, Brodtkorb E, Steinlein O. Schizophrenia, psychotic illness and other psychiatric symptoms in families with autosomal dominant nocturnal frontal lobe epilepsy caused by different mutations. Psychiatr Genet. 2003;13:91-5. (Pubitemid 36724537)
38. Phillips HA, Scheffer IE, Crossland KM, Bhatia KP, Fish DR, Marsden CD, et al. Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24. Am J Hum Genet. 1998;63:1108-16. (Pubitemid 30418582)
39. Gambardella A, Annesi G, De Fusco M, Patrignani A, Aguglia U, Annesi F, et al. A new locus for autosomal dominant nocturnal frontal lobe epilepsy maps to chromosome 1. Neurology. 2000;55:1467-71.
40. De Fusco M, Becchetti A, Patrignani A, Annesi G, Gambardella A, Quattrone A, et al. The nicotinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet. 2000;26:275-6.
41. Hoda JC, Gu W, Friedli M, Phillips HA, Bertrand S, Antonarakis SE, 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;74:379-91.
42. Phillips HA, Favre I, Kirkpatrick M, Zuberi SM, Goudie D, Heron SE, et al. CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy. Am J Hum Genet. 2001;68:225-31. (Pubitemid 32048378)
43. Diaz-Otero F, Quesada M, Morales-Corraliza J, Martinez-Parra C, Gomez-Garre P, Serratosa JM. Autosomal dominant nocturnal frontal lobe epilepsy with a mutation in the CHRNB2 gene. Epilepsia. 2008;49:516-20. (Pubitemid 351294529)
44. Bertrand D, Elmslie F, Hughes E, Trounce J, Sander T, Bertrand S, et al. The CHRNB2 mutation I312M is associated with epilepsy and distinct memory deficits. Neurobiol Dis. 2005;20:799-804. (Pubitemid 41619355)
45. Cho YW, Yi SD, Lim JG, Kim DK, Motamedi GK. Autosomal dominant nocturnal frontal lobe epilepsy and mild memory impairment associated with CHRNB2 mutation I312M in the neuronal nicotinic acetylcholine receptor. Epilepsy Behav. 2008;13:361-5.
46. Liu H, Lu C, Li Z, Zhou S, Li X, Ji L, 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;95:94-9.
47. Combi R, Ferini-Strambi L, Montruccoli A, Bianchi V, Malcovati M, Zucconi M, et al. Two new putative susceptibility loci for ADNFLE. Brain Res Bull. 2005;67:257-63. (Pubitemid 41354774)
48. Combi R, Dalpra L, Ferini-Strambi L, Tenchini ML. Frontal lobe epilepsy and mutations of the corticotropin-releasing hormone gene. Ann Neurol. 2005;58:899-904. (Pubitemid 41746879)
49. 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;17:361-2.
50. • Sansoni V, Forcella M, Mozzi A, Fusi P, Ambrosini R, Ferini-Strambi L, et al. Functional characterization of a CRH missense mutation identified in an ADNFLE family. PLoS One. 2013;8: e61306. This is the first mutation described in the coding region of the CRH gene associated with ADNFLE. Previous studies have shown that CRH promotes wakefulness and impairs sleep in a dose-dependent way, and may increase seizures susceptibility. Individuals with an altered CRH level could be more prone to developing the disease.
51. Aridon P, Marini C, Di Resta C, Brilli E, De Fusco M, Politi F, 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;79:342-50. (Pubitemid 44141832)
52. Picard F, Bruel D, Servent D, Saba W, Fruchart-Gaillard C, Schollhorn-Peyronneau MA, et al. Alteration of the in vivo nicotinic receptor density in ADNFLE patients: a PET study. Brain. 2006;129:2047-60. (Pubitemid 44289070)
53. Lena C, Popa D, Grailhe R, Escourrou P, Changeux JP, Adrien J. Beta2-containing nicotinic receptors contribute to the organization of sleep and regulate putative micro-arousals in mice. J Neurosci. 2004;24:5711-8. (Pubitemid 38857225)
54. Klaassen A, Glykys J, Maguire J, Labarca C, Mody I, Boulter J. Seizures and enhanced cortical GABAergic inhibition in two mouse models of human autosomal dominant nocturnal frontal lobe epilepsy. Proc Natl Acad Sci U S A. 2006;103:19152-7.
55. • Xu J, Cohen BN, Zhu Y, Dziewczapolski G, Panda S, Lester HA, et al. Altered activity-rest patterns in mice with a human autosomal-dominant nocturnal frontal lobe epilepsy mutation in the beta2 nicotinic receptor. Mol Psychiatry. 2011;16:1048-61. This experimental study shows that mice with a mutation in the beta2 nicotinic receptor may have an alteration of their sleep pattern, independent of the presence of epileptic activity. The study underlines the role of nicotinic receptors in the sleep regulation and has important implications for the interpretation of the pathophysiological mechanisms of ADNFLE..
56. Parrino L, De Paolis F, Milioli G, Gioi G, Grassi A, Riccardi S, et al. Distinctive polysomnographic traits in nocturnal frontal lobe epilepsy. Epilepsia. 2012;53:1178-84.
57. Terzaghi M, Sartori I, Mai R, Tassi L, Francione S, Cardinale F, et al. Coupling of minor motor events and epileptiform discharges with arousal fluctuations in NFLE. Epilepsia. 2008;49:670-6.
58. • Halasz P, Kelemen A, Szucs A. The role of NREM sleep micro arousals in absence epilepsy and in nocturnal frontal lobe epilepsy. Epilepsy Res. 2013;107:9-19. This is a systematic review on the role of NREM sleep-related phasic events, micro-arousals, in two major idiopathic epilepsies. Taking into account both experimental and clinical findings, the authors discuss the role of arousal fluctuations in NFLE and the relationships between cholinergic alterations, thalamocortical oscillations, and seizures.
59. •• Bisulli F, Vignatelli L, Naldi I, Licchetta L, Provini F, Plazzi G, et al. Increased frequency of arousal parasomnias in families with nocturnal frontal lobe epilepsy: a common mechanism? Epilepsia. 2010;51:1852-60. This details a case-control family study that recruited 33 NFLE probands, 200 relatives of probands, 31 controls, and 194 control relatives. The authors found an increased prevalence of arousal disorders (odds ratio 4.7) and nightmares (odds ratio 2.6) among NFLE proband relatives. The study suggests a possible common pathophysiological mechanism (based on an alteration of the cholinergic system) in parasomnias and NFLE.
60. •• Ishida S, Picard F, Rudolf G, Noe E, Achaz G, Thomas P, et al. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet. 2013;45:552-5. This study shows that loss-of-function mutations in DEPDC5 are a major cause of a broad spectrum of autosomal dominant focal epilepsies with different brain localization and electroclinical expression, including ADNFLE, familial temporal lobe epilepsy, and familial focal epilepsy with variable foci. The study indicates that the seizure initiation sites may be dissociated from underlying genetic mechanisms..
61. Heron SE, Scheffer IE, Berkovic SF, Dibbens LM, Mulley JC. Channelopathies in idiopathic epilepsy. Neurotherapeutics. 2007;4:295-304.
62. • Steinlein OK, Hoda JC, Bertrand S, Bertrand D. Mutations in familial nocturnal frontal lobe epilepsy might be associated with distinct neurological phenotypes. Seizure. 2012;21:118-23. This study shows that certain ADNFLE mutations might be associated with an increased risk of cognitive deficits, mental retardation, and psychiatric symptoms. These results suggest that a neuropsychological evaluation should be included in the clinical assessment of patients with ADNFLE..
63. Blumcke I, Thom M, Aronica E, Armstrong DD, Vinters HV, Palmini A, et al. The clinicopathologic spectrum of focal cortical dysplasias: a consensus classification proposed by an ad hoc Task Force of the ILAE Diagnostic Methods Commission. Epilepsia. 2011;52:158-74.
64. • Nobili L, Cardinale F, Magliola U, Cicolin A, Didato G, Bramerio M, et al. Taylor's focal cortical dysplasia increases the risk of sleep-related epilepsy. Epilepsia. 2009;50:2599-604. This study evaluated the relative roles of the topography of the epileptogenic zone and of the etiologic substrate as risk factors for sleep-related focal epilepsy. The analysis of the clinical and histopathologic features of 303 drug-resistant patients seizure-free since surgery revealed that one of every two patients with a Taylor-type cortical dysplasia, independent of its location, had a sleep-related focal epilepsy. The presence of Taylor-type cortical dysplasia increases the risk of sleep-related focal epilepsy 14-fold.
65. • Proserpio P, Cossu M, Francione S, Gozzo F, Lo Russo G, Mai R, et al. Epileptic motor behaviors during sleep: anatomo-electroclinical features. Sleep Med. 2011;12 Suppl 2:S33-8. This study included 40 patients with drug-resistant sleep-related focal epilepsy submitted to Stereo- Electroencephalography investigation and seizure-free after surgical treatment. The study points out that a significant proportion (30%) of sleep-related complex motor seizures may originate outside the frontal lobe. These results are clinically relevant when considering drug-resistant epileptic patients in whom a surgical approach could be an effective treatment..
66. Chassoux F, Landre E, Mellerio C, Turak B, Mann MW, Daumas-Duport C, et al. Type II focal cortical dysplasia: electroclinical phenotype and surgical outcome related to imaging. Epilepsia. 2012;53:349-58.
67. Noli D, Bartuluchi M, Gonzalez FS, Kaltenmeier MC, Cersosimo R, Rugilo C, et al. Type II focal cortical dysplasia: electroclinical study and surgical outcome in 31 pediatric patients. Childs Nerv Syst. 2013;29:2079-87.
68. Tassi L, Garbelli R, Colombo N, Bramerio M, Russo GL, Mai R, et al. Electroclinical, MRI and surgical outcomes in 100 epileptic patients with type II FCD. Epileptic Disord. 2012;14:257-66.
69. Garbelli R, Frassoni C, Condorelli DF, Trovato Salinaro A, Musso N, Medici V, et al. Expression of connexin 43 in the human epileptic and drug-resistant cerebral cortex. Neurology. 2011;76: 895-902.
70. Chassoux F, Devaux B, Landre E, Turak B, Nataf F, Varlet P, et al. Stereoelectroencephalography in focal cortical dysplasia: a 3D approach to delineating the dysplastic cortex. Brain. 2000;123: 1733-51.
71. Nobili L, Sartori I, Terzaghi M, Stefano F, Mai R, Tassi L, et al. Relationship of epileptic discharges to arousal instability and periodic leg movements in a case of nocturnal frontal lobe epilepsy: a stereo-EEG study. Sleep. 2006;29:701-4.
72. Mai R, Sartori I, Francione S, Tassi L, Castana L, Cardinale F, et al. Sleep-related hyperkinetic seizures: always a frontal onset? Neurol Sci. 2005;26 Suppl 3:s220-4.
73. Terzaghi M, Sartori I, Mai R, Tassi L, Francione S, Cardinale F, et al. Sleep-related minor motor events in nocturnal frontal lobe epilepsy. Epilepsia. 2007;48:335-41.
74. Peled R, Lavie P. Paroxysmal awakenings from sleep associated with excessive daytime somnolence: a form of nocturnal epilepsy. Neurology. 1986;36:95-8.
75. Plazzi G, Tinuper P, Montagna P, Provini F, Lugaresi E. Epileptic nocturnal wanderings. Sleep. 1995;18:749-56.
76. Zucconi M, Oldani A, Smirne S, Ferini-Strambi L. The macrostructure and microstructure of sleep in patients with autosomal dominant nocturnal frontal lobe epilepsy. J Clin Neurophysiol. 2000;17:77-86.
77. Montagna P. Nocturnal paroxysmal dystonia and nocturnal wandering. Neurology. 1992;42(7 Suppl 6):61-7.
78. Nobili L, Francione S, Mai R, Tassi L, Cardinale F, Castana L, et al. Nocturnal frontal lobe epilepsy: intracerebral recordings of paroxysmal motor attacks with increasing complexity. Sleep. 2003;26:883-6.
79. Morris 3rd HH, Dinner DS, Luders H, Wyllie E, Kramer R. Supplementary motor seizures: clinical and electroencephalographic findings. Neurology. 1988;38:1075-82.
80. Rheims S, Ryvlin P, Scherer C, Minotti L, Hoffmann D, Guenot M, et al. Analysis of clinical patterns and underlying epileptogenic zones of hypermotor seizures. Epilepsia. 2008;49:2030-40.
81. Vaugier L, Aubert S, McGonigal A, Trebuchon A, Guye M, Gavaret M, et al. Neural networks underlying hyperkinetic seizures of "temporal lobe" origin. Epilepsy Res. 2009;86:200-8.
82. Tassinari CA, Rubboli G, Gardella E, Cantalupo G, Calandra-Buonaura G, Vedovello M, et al. Central pattern generators for a common semiology in fronto-limbic seizures and in parasomnias. A neuroethologic approach. Neurol Sci. 2005;26 Suppl 3:s225-32.
83. Tassinari CA, Cantalupo G, Hogl B, Cortelli P, Tassi L, Francione S, et al. Neuroethological approach to frontolimbic epileptic seizures and parasomnias: the same central pattern generators for the same behaviours. Rev Neurol (Paris). 2009;165:762-8.
84. •• Proserpio P, Cossu M, Francione S, Tassi L, Mai R, Didato G, et al. Insular-opercular seizures manifesting with sleep-related paroxysmal motor behaviors: a stereo-EEG study. Epilepsia. 2011;52: 1781-91. These data reinforce the concept that sleep-related complex motor seizures can originate outside the frontal lobe and give helpful electroclinical information to distinguish patients with sleep-related insular - opercular seizures. Moreover, this study indicates that intracranial EEG in the insula can be performed safely, and surgical treatment may represent a highly effective treatment option in these drug-resistant patients..
85. Kaido T, Otsuki T, Nakama H, Kaneko Y, Kubota Y, Sugai K, et al. Complex behavioral automatism arising from insular cortex. Epilepsy Behav. 2006;8:315-9.
86. Dobesberger J, Ortler M, Unterberger I, Walser G, Falkenstetter T, Bodner T, et al. Successful surgical treatment of insular epilepsy with nocturnal hypermotor seizures. Epilepsia. 2008;49:159-62.
87. Isnard J, Guenot M, Sindou M, Mauguiere F. Clinical manifestations of insular lobe seizures: a stereo-electroencephalographic study. Epilepsia. 2004;45:1079-90.
88. Tinuper P, Provini F, Bisulli F, Vignatelli L, Plazzi G, Vetrugno R, et al. Movement disorders in sleep: guidelines for differentiating epileptic from non-epileptic motor phenomena arising from sleep. Sleep Med Rev. 2007;11:255-67.
89. Plazzi G, Montagna P, Provini F, Tinuper P, Lugaresi E. Sudden arousals from slow-wave sleep and panic disorder. Sleep. 1998;21:548.
90. ASDA. American Academy of Sleep Medicine: The international classification of sleep disorders: diagnostic and coding manual. 2nd ed. Westchester: American Academy of Sleep Medicine; 2005.
91. Vignatelli L, Bisulli F, Zaniboni A, Naldi I, Fares JE, Provini F, et al. Interobserver reliability of ICSD-R minimal diagnostic criteria for the parasomnias. J Neurol. 2005;252:712-7.
92. Derry CP, Davey M, Johns M, Kron K, Glencross D, Marini C, et al. Distinguishing sleep disorders from seizures: diagnosing bumps in the night. Arch Neurol. 2006;63:705-9.
93. • Bisulli F, Vignatelli L, Naldi I, Pittau F, Provini F, Plazzi G, et al. Diagnostic accuracy of a structured interview for nocturnal frontal lobe epilepsy (SINFLE): a proposal for developing diagnostic criteria. Sleep Med. 2012;13:81-7. The objective of this investigation was to measure the accuracy of anamnestic features collected during clinical history for the diagnosis of NFLE. The authors conducted a a case-control diagnostic study including a case group of NFLE and a control group of people with sleep disorders potentially confounding for NFLE. The study disclosed two major anamnestic patterns (dystonic posturing and hyperkinetic behaviors) and four minor features (duration < 2 mins, unstructured vocalization during the episode, experience of an aura preceding the motor attack, and a history of tonic-clonic seizures during sleep) with unsatisfactory sensitivity, but high specificity..
94. 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: 1581-5.
95. Manni R, Terzaghi M, Zambrelli E. REM sleep behavior disorder and epileptic phenomena: clinical aspects of the comorbidity. Epilepsia. 2006;47 Suppl 5:78-81.
96. •• Derry CP, Harvey AS, Walker MC, Duncan JS, Berkovic SF. NREM arousal parasomnias and their distinction from nocturnal frontal lobe epilepsy: a video EEG analysis. Sleep. 2009;32:1637-44. This study analyzed a video-EEG monitoring series focusing on the semiological features of the arousal parasomnias and NFLS with the aim of making video analysis of nocturnal paroxysmal events more reliable. Dystonic posturing and hyperkinetic automatisms (e.g., kicking, rocking, or cycling movements) were found to be specific for NFLS. In the absence of these major features the presence of verbal interaction and failure to achieve full arousal after the event strongly suggest a diagnosis of parasomnia.However, other motor patterns, mainly characterized by brief motor manifestations or complex fearful behaviors, like sitting, standing, or walking, did not discriminate between the two conditions..
97. Nobili L. Can homemade video recording become more than a screening tool? Sleep. 2009;32:1544-5.
98. Nobili L. Nocturnal frontal lobe epilepsy and non-rapid eye movement sleep parasomnias: differences and similarities. Sleep Med Rev. 2007;11:251-4.
99. Lugaresi E, Cirignotta F. Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome? Sleep. 1981;4:129-38.
100. Picard F, Bertrand S, Steinlein OK, Bertrand D. Mutated nicotinic receptors responsible for autosomal dominant nocturnal frontal lobe epilepsy are more sensitive to carbamazepine. Epilepsia. 1999;40:1198-209.
101. Provini F, Plazzi G, Montagna P, Lugaresi E. The wide clinical spectrum of nocturnal frontal lobe epilepsy. Sleep Med Rev. 2000;4:375-86.
102. Raju GP, Sarco DP, Poduri A, Riviello JJ, Bergin AM, Takeoka M. Oxcarbazepine in children with nocturnal frontal-lobe epilepsy. Pediatr Neurol. 2007;37:345-9.
103. Oldani A, Manconi M, Zucconi M, Martinelli C, Ferini-Strambi L. Topiramate treatment for nocturnal frontal lobe epilepsy. Seizure. 2006;15:649-52.
104. Varadkar S, Duncan JS, Cross JH. Acetazolamide and autosomal dominant nocturnal frontal lobe epilepsy. Epilepsia. 2003;44: 986-7.
105. Willoughby JO, Pope KJ, Eaton V. Nicotine as an antiepileptic agent in ADNFLE: an N-of-one study. Epilepsia. 2003;44:1238-40.
106. Brodtkorb E, Picard F. Tobacco habits modulate autosomal dominant nocturnal frontal lobe epilepsy. Epilepsy Behav. 2006;9:515-20.
107. Naldi I, Bisulli F, Vignatelli L, Licchetta L, Pittau F, Di Vito L, et al. Tobacco habits in nocturnal frontal lobe epilepsy. Epilepsy Behav. 2013;26:114-7.
108. • De Paolis F, Colizzi E, Milioli G, Grassi A, Riccardi S, Puligheddu M, et al. Effects of antiepileptic treatment on sleep and seizures in nocturnal frontal lobe epilepsy. Sleep Med. 2013;14:597-604. In this study the authors report the effects of antiepileptic drug treatment on both sleep macro- and microstructure, and on video-PSG-recorded seizures in a group of NFLE patients. A significant reduction of major seizures was observed; however, the authors also report the persistence of a certain number of minor seizures and a high sleep instability. The authors suggest a peculiar sleep microstructure instability as a possible trait marker of NFLE..