Definition and diagnostic criteria of sleep-related hypermotor epilepsy

Neurology

Volumn 86, Issue 19, 2016, Pages 1834-1842

  Tinuper, Paolo ^a,b   Bisulli, Francesca ^a,b   Cross, J H ^c   Hesdorffer, Dale ^d   Kahane, Philippe ^e   Nobili, Lino ^f   Provini, Federica ^a,b   Scheffer, Ingrid E ^g   Tassi, Laura ^f   Vignatelli, Luca ^a   Bassetti, Claudio ^h   Cirignotta, Fabio ⁱ   Derry, Christopher ^j   Gambardella, Antonio ^k   Guerrini, Renzo ^l   Halasz, Peter ^m   Licchetta, Laura ^a,b   Mahowald, Mark ⁿ   Manni, Raffaele ^o   Marini, Carla ^l   Mostacci, Barbara ^a   Naldi, Ilaria ^a   Parrino, Liborio ^p   Picard, Fabienne ^q   Pugliatti, Maura ^r   Ryvlin, Philippe ^s,t,u   Vigevano, Federico ^v   Zucconi, Marco ^w   Berkovic, Samuel ^g   Ottman, Ruth ^d,x   more..

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

^b UNIVERSITY OF BOLOGNA   (Italy)

^c UNIVERSITY COLLEGE LONDON   (United Kingdom)

^d Columbia University ^*  (United States)

^e GRENOBLE UNIVERSITY HOSPITAL   (France)

^f OSPEDALE NIGUARDA CA GRANDA   (Italy)

^g UNIVERSITY OF MELBOURNE   (Australia)

^h UNIVERSITY OF BERN   (Switzerland)

ⁱ UNIVERSITY OF BOLOGNA   (Italy)

^j WESTERN GENERAL HOSPITAL   (United Kingdom)

^k UNIVERSITY MAGNA GRAECIA OF CATANZARO   (Italy)

^l UNIVERSITY OF FLORENCE   (Italy)

^m National Institute of Clinical Neurosciences   (Hungary)

ⁿ UNIVERSITY OF MINNESOTA MEDICAL SCHOOL   (United States)

^o UNIVERSITY OF PAVIA   (Italy)

^p UNIVERSITY OF PARMA   (Italy)

^q UNIVERSITY OF GENEVA MEDICAL SCHOOL   (Switzerland)

^r UNIVERSITY OF FERRARA   (Italy)

^s LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^t HOSPICES CIVILS DE LYON   (France)

^u Hospices Civils de Lyon   (France)

^v BAMBINO GESÙ CHILDREN S HOSPITAL   (Italy)

^w SAN RAFFAELE HOSPITAL   (Italy)

^x NONE   (United States)

more..

Author keywords

[No Author keywords available]

Indexed keywords

CLINICAL FEATURE; ELECTROENCEPHALOGRAM; EPILEPSY; GENETICS; HUMAN; META ANALYSIS; PRIORITY JOURNAL; REVIEW; SLEEP DISORDER; SLEEP RELATED HYPERMOTOR EPILEPSY; SYSTEMATIC REVIEW; VIDEORECORDING; BRAIN; CONSENSUS DEVELOPMENT; ELECTROENCEPHALOGRAPHY; NOMENCLATURE; PATHOPHYSIOLOGY;

BRAIN; ELECTROENCEPHALOGRAPHY; EPILEPSY; HUMANS; TERMINOLOGY AS TOPIC; VIDEO RECORDING;

EID: 84978375350     PISSN: 00283878     EISSN: 1526632X     Source Type: Journal    
DOI: 10.1212/WNL.0000000000002666     Document Type: Review

References (60)

1. Lugaresi E, Cirignotta F. Hypnogenic paroxysmal dysto-nia: epileptic seizure or a new syndrome? Sleep 1981;4: 129-138.
2. Williamson PD, Spencer DD, Spencer SS, Novelly RA, Mattson RH. Complex partial seizures of frontal lobe origin. Ann Neurol 1985;18:497-504.
3. Waterman K, Purves SJ, Kosaka B, Strauss E, Wada JA. An epileptic syndrome caused by mesial frontal lobe seizure foci. Neurology 1987;37:577-582.
4. 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;31:549-556.
5. Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant frontal epilepsy misdiagnosed as sleep disorder. Lancet 1994;343:515-517.
6. 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.
7. Bisulli F, Vignatelli L, Naldi I, et al. Diagnostic accuracy of a structured interview for nocturnal frontal lobe epilepsy (SINFLE): a proposal for developing diagnostic criteria. Sleep Med 2012;13:81-87.
8. Candiani G, Colombo C, Daghini R, et al. Manuale me-todologico: come organizzare una conferenza di consenso [online]. Rome: Istituto Superiore di Sanità, Sistema Nazionale Linee Guida SNLG; 2009. Available at: http://www.snlg-iss.it/manuale-metodologico-consensus. Accessed January 2, 2015.
9. American College of Chest Physicians. ACCP Consensus Statement Development Guide [online]. Available at: http://www.accpstorage.org/newOrganization/guidelines/ConsensusGuide.pdf. Accessed September 18, 2014.
10. Parrino L, De Paolis F, Milioli G, et al. Distinctive poly-somnographic traits in nocturnal frontal lobe epilepsy. Epilepsia 2012;53:1178-1184.
11. Tassinari CA, Cantalupo G, Hogl B, et al. Neuroetholog-ical approach to frontolimbic epileptic seizures and para-somnias: the same central pattern generators for the same behaviours. Rev Neurol 2009;165:762-768.
12. Berg AT, Berkovic SF, Brodie MJ, et al. Revised terminology and concepts for organization of seizures and epilepsies: report of the ILAE Commission on Classification and Terminology, 2005-2009. Epilepsia 2010;51:676-685.
13. Nobili L, Francione S, Mai R, et al. Surgical treatment of drug-resistant nocturnal frontal lobe epilepsy. Brain 2007; 130:561-573.
14. Derry CP, Davey M, Johns M, et al. Distinguishing sleep disorders from seizures: diagnosing bumps in the night. Arch Neurol 2006;63:705-709.
15. 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.
16. 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;32:1637-1644.
17. 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;122:1017-1031.
18. Scheffer IE, Bhatia KP, Lopes-Cendes I, et al. Autosomal dominant nocturnal frontal lobe epilepsy: a distinctive clinical disorder. Brain 1995;118:61-73.
19. Oldani A, Zucconi M, Asselta R, et al. Autosomal domi nant nocturnal frontal lobe epilepsy: a video-polysomnographic and genetic appraisal of 40 patients and delineation of the epileptic syndrome. Brain 1998; 121:205-223.
20. Vignatelli L, Bisulli F, Giovannini G, et al. Prevalence of nocturnal frontal lobe epilepsy in the adult population of Bologna and Modena, Emilia-Romagna Region, Italy. Sleep 2015;38:479-485.
21. Luders H, Acharya J, Baumgartner C, et al. Semiological seizure classification. Epilepsia 1998;39:1006-1013.
22. 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.
23. Terzaghi M, Sartori I, Mai R, et al. Sleep-related minor motor events in nocturnal frontal lobe epilepsy. Epilepsia 2007;48:335-341.
24. Montagna P. Nocturnal paroxysmal dystonia and nocturnal wandering. Neurology 1992;42:61-67.
25. Terzaghi M, Sartori I, Mai R, et al. Coupling of minor motor events and epileptiform discharges with arousal fluctuations in NFLE. Epilepsia 2008;49:670-676.
26. Vignatelli L, Bisulli F, Naldi I, et al. Excessive daytime sleepiness and subjective sleep quality in patients with nocturnal frontal lobe epilepsy: a case-control study. Epilepsia 2006;47(suppl 5):73-77.
27. Bisulli F, Vignatelli L, Naldi I, et al. Increased frequency of arousal parasomnias in families with nocturnal frontal lobe epilepsy: a common mechanism? Epilepsia 2010;51: 1852-1860.
28. Bassetti C, Vella S, Donati F, Wielepp P, Weder B. SPECT during sleepwalking. Lancet 2000;356:484-485.
29. Derry CP, Heron SE, Phillips F, et al. Severe autosomal dominant nocturnal frontal lobe epilepsy associated with psychiatric disorders and intellectual disability. Epilepsia 2008;49:2125-2129.
30. Heron SE, Smith KR, Bahlo M, et al. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet 2012;44:1188-1190.
31. Tassi L, Garbelli R, Colombo N, et al. Electroclinical, MRI and surgical outcomes in 100 epileptic patients with type II FCD. Epileptic Disord 2012;14:257-266.
32. Rheims S, Ryvlin P, Scherer C, et al. Analysis of clinical patterns and underlying epileptogenic zones of hypermo-tor seizures. Epilepsia 2008;49:2030-2040.
33. Proserpio P, Cossu M, Francione S, et al. Insular-opercular seizures manifesting with sleep-related paroxysmal motor behaviors: a stereo-EEG study. Epilepsia 2011;52:1781-1791.
34. Ryvlin P, Minotti L, Demarquay G, et al. Nocturnal hypermotor seizures, suggesting frontal lobe epilepsy, can originate in the insula. Epilepsia 2006;47:755-765.
35. Nobili L, Cossu M, Mai R, et al. Sleep-related hyperki-netic seizures of temporal lobe origin. Neurology 2004;62: 482-485.
36. Montavont A, Kahane P, Catenoix H, et al. Hypermotor seizures in lateral and mesial parietal epilepsy. Epilepsy Behav 2013;28:408-412.
37. 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.
38. 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.
39. Bisulli F, Vignatelli L, Provini F, Leta C, 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-S32.
40. 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.
41. De Fusco M, Becchetti A, Patrignani A, et al. The nico-tinic receptor beta 2 subunit is mutant in nocturnal frontal lobe epilepsy. Nat Genet 2000;26:275-276.
42. 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.
43. Picard F, Makrythanasis P, Navarro V, et al. DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy. Neurology 2014;82:2101-2106.
44. 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;48:264-267.
45. Ishida S, Picard F, Rudolf G, et al. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet 2013;45:552-555.
46. 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.
47. Barcia G, Fleming MR, Deligniere A, et al. De novo gain-of-function KCNT1 channel mutations cause malignant migrating partial seizures of infancy. Nat Genet 2012;44: 1255-1259.
48. Milligan CJ, Li M, Gazina EV, et al. KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine. Ann Neurol 2014;75:581-590.
49. Scheffer IE, Phillips HA, O'Brien CE, et al. Familial partial epilepsy with variable foci: a new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Ann Neurol 1998;44:890-899.
50. Dibbens LM, de Vries B, Donatello S, et al. Mutations in DEPDC5 cause familial focal epilepsy with variable foci. Nat Genet 2013;45:546-551.
51. Berkovic SF, Serratosa JM, Phillips HA, et al. Familial partial epilepsy with variable foci: clinical features and linkage to chromosome 22q12. Epilepsia 2004;45:1054-1060.
52. Bar-Peled L, Chantranupong L, Cherniack AD, et al. A tumor suppressor complex with GAP activity for the Rag GTPases that signal amino acid sufficiency to mTORC1. Science 2013;340:1100-1106.
53. Krueger DA, Wilfong AA, Holland-Bouley K, et al. Ever-olimus treatment of refractory epilepsy in tuberous sclerosis complex. Ann Neurol 2013;74:679-687.
54. Mostacci B, Bisulli F, Vignatelli L, et al. Incidence of sudden unexpected death in nocturnal frontal lobe epilepsy: a cohort study. Sleep Med 2015;16:232-236.
55. Lamberts RJ, Thijs RD, Laffan A, Langan Y, Sander JW. Sudden unexpected death in epilepsy: people with nocturnal seizures may be at highest risk. Epilepsia 2012;53:253-257.
56. Poduri A, Evrony GD, Cai X, Walsh CA. Somatic mutation, genomic variation, and neurological disease. Science 2013;341:1237758.
57. Lee JH, Huynh M, Silhavy JL, et al. De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly. Nat Genet 2012;44: 941-945.
58. Poduri A, Evrony GD, Cai X, et al. Somatic activation of AKT3 causes hemispheric developmental brain malformations. Neuron 2012;74:41-48.
59. Scheffer IE, Heron SE, Regan BM, et al. Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformations. Ann Neurol 2014;75:782-787.
60. Bearden D, Strong A, Ehnot J, Di Giovine M, Dlugos D, Goldberg EM. Targeted treatment of migrating partial seizures of infancy with quinidine. Ann Neurol 2014;76: 457-461.