Sleep-related hypermotor epilepsy

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Sleep-related hypermotor epilepsy
SpecialtyNeurology

Lua error in Module:Sitelinks at line 59: attempt to index field 'results' (a nil value).Sleep-related hypermotor epilepsy (SHE), previously known as nocturnal frontal lobe epilepsy, is a form of focal epilepsy characterized by seizures which arise during sleep. The seizures are most typically characterized by complex motor behaviors. It is a relatively uncommon form of epilepsy that constitutes approximately 9-13% of cases.[1][2][3] This disorder is associated with cognitive impairment in at least half of patients as well as excessive daytime sleepiness due to poor sleep quality.[4] This disorder is sometimes misdiagnosed as a non-epileptic sleep disorder. There are many potential causes of SHE including genetic, acquired injuries and structural abnormalities.[5]

Symptoms and signs

Seizures in SHE are brief and usually have an abrupt onset and offset.[6] The observable clinical manifestations may consist of rapid, hyperkinetic movements as well as tonic/dystonic posturing of the limbs.[6] Other potential manifestations include brief arousals from sleep or wandering ambulatory behavior.[7] Non-motor manifestations (such as sensory or emotional phenomenon) are common and retained awareness during seizures may occur.[5] Seizures usually occur during non-REM sleep.[7] The frequency of seizures can be very high and as many as dozens may occur every night which results in poor sleep quality.[8] In addition, many patients with SHE suffer from cognitive impairment and have behavioral/psychological problems.[6][9] There are many risks associated with nocturnal seizures including concussion, suffocation and sudden unexpected death (SUDEP).

Cause

Approximately 86% of SHE cases are sporadic, 14% of patients have a family history of epilepsy and 5% are inherited in an autosomal dominant manner (i.e. autosomal dominant sleep-related hypermotor epilepsy).[10] Both genetic, structural and multifactorial etiologies can occur.[5] In structural cases, the most common pathology is focal cortical dysplasia.[6]

The first described mutation in SHE was found in genes coding for the neuronal nicotinic acetylcholine receptor.[11] Since then multiple other genes have been identified including KCNT1, DEPDC5, NPRL2, NPRL3, PRIMA1, CABP4, CRH and others.[6] In some cases, structural and genetic etiologies can coexist such as with mutations in DEPDC5.[12]

Diagnosis

The condition may be difficult to diagnose and misdiagnosis is common.[13] The subject may be unaware they have a seizure disorder.[14] To others, the involuntary movements made during sleep may appear no different from those typical of normal sleep.[15] People who have nocturnal seizures may notice unusual conditions upon awakening in the morning, such as a headache, having wet the bed, having bitten the tongue, a bone or joint injury, muscle strains or weakness, fatigue, or lightheadedness. Others may notice unusual mental behaviors consistent with the aftermath of a seizure.[16] Objects near the bed may have been knocked to the floor, or the subject may be surprised to find themselves on the floor.

Diagnosis is based on clinical history but often EEG and/or polysomnography is required. In many patients the EEG can also be unhelpful as seizures may originate from deep in the brain.[13] Polysomnography can be helpful distinguishing SHE from parasomnias as they often arise from different stages of sleep.[13]

Treatment

Like other forms of epilepsy, SHE can be treated with anti-seizure medications.[6] Adequate control of seizures occur in approximately two-thirds of patients with anti-seizure medications while approximately one-third of patients do not appropriately respond.[13] The relative efficacy of different medications has not been systematically investigated.[13] Historically, low-dose carbamazepine has been the preferred medication for SHE and is often considered to be first-line.[4] Other anti-seizure medications which have been studied for the treatment of SHE and found to have efficacy include: oxcarbazepine, topiramate, lacosamide and perampanel.[4][17] Epilepsy surgery can be efficacious in refractory patients.[4] In addition, there have been reports of successfully treating SHE due to mutations in CHRNA4 with nicotine patches.[4]

History

Flow diagram of recruitment for individuals with sleep-related hypermotor epilepsy[18]

In 1981, Lugaresi and Cirignotta described a group of 5 patients with paroxysmal attacks of violent movements of the extremities and dystonic-tonic posturing.[19]

It was initially uncertain whether these events constituted seizures or something else. However, the patients had a good clinical response to the anti-seizure medication carbamazepine. Ultimately, the epileptic nature of this condition was confirmed with EEG and suggested that they were coming from the frontal lobe.[20][21]

The term “nocturnal frontal lobe epilepsy” was suggested as a name for this condition. Later in 2014, a consensus conference recommended that the name be changed to sleep-related hypermotor epilepsy.[13]

There were three main justifications for this change: (1) not all seizures arise from the frontal lobe; (2) seizures do not necessarily occur during the night but rather from sleep; (3) hypermotor describes the most common visible clinical manifestation of the seizures.[13]

References

  1. Thomas, R. H.; King, W. H.; Johnston, J. A.; Smith, P. E. M. (2010-02-01). "Awake seizures after pure sleep-related epilepsy: a systematic review and implications for driving law". Journal of Neurology, Neurosurgery & Psychiatry. 81 (2): 130–135. doi:10.1136/jnnp.2009.181438. ISSN 0022-3050. PMID 20145025. S2CID 9051378. Archived from the original on 2022-11-19. Retrieved 2022-09-14.
  2. Provini, F. (1999-06-01). "Nocturnal frontal lobe epilepsy: A clinical and polygraphic overview of 100 consecutive cases". Brain. 122 (6): 1017–1031. doi:10.1093/brain/122.6.1017. ISSN 1460-2156. PMID 10356056. Archived from the original on 2022-11-19. Retrieved 2022-09-14.
  3. Menghi, Veronica; Bisulli, Francesca; Tinuper, Paolo; Nobili, Lino (2018). "Sleep-related hypermotor epilepsy: prevalence, impact and management strategies". Nature and Science of Sleep. 10: 317–326. doi:10.2147/NSS.S152624. ISSN 1179-1608. PMC 6186898. PMID 30349413.
  4. 4.0 4.1 4.2 4.3 4.4 Asioli, Gian Maria; Rossi, Simone; Bisulli, Francesca; Licchetta, Laura; Tinuper, Paolo; Provini, Federica (2020-01-30). "Therapy in Sleep-Related Hypermotor Epilepsy (SHE)". Current Treatment Options in Neurology. 22 (1): 1. doi:10.1007/s11940-020-0610-1. ISSN 1092-8480. PMID 31997091. S2CID 210949795. Archived from the original on 2022-08-31. Retrieved 2022-09-14.
  5. 5.0 5.1 5.2 Bisulli, Francesca; Licchetta, Laura; Tinuper, Paolo (2019-07-17). "Sleep related hyper motor epilepsy (SHE): a unique syndrome with heterogeneous genetic etiologies". Sleep Science and Practice. 3 (1): 3. doi:10.1186/s41606-019-0035-5. ISSN 2398-2683. S2CID 198921976. Archived from the original on 2022-11-19. Retrieved 2022-09-14.
  6. 6.0 6.1 6.2 6.3 6.4 6.5 Wan, Huijuan; Wang, Xing; Chen, Yiyi; Jiang, Bin; Chen, Yangmei; Hu, Wenhan; Zhang, Kai; Shao, Xiaoqiu (2021-11-13). "Sleep-Related Hypermotor Epilepsy: Etiology, Electro-Clinical Features, and Therapeutic Strategies". Nature and Science of Sleep. 13: 2065–2084. doi:10.2147/nss.s330986. ISSN 1179-1608. PMC 8598206. PMID 34803415. Archived from the original on 2022-11-19. Retrieved 2022-09-14.
  7. 7.0 7.1 Bisulli, Francesca; Licchetta, Laura; Tinuper, Paolo (2019-07-17). "Sleep related hyper motor epilepsy (SHE): a unique syndrome with heterogeneous genetic etiologies". Sleep Science and Practice. 3 (1). doi:10.1186/s41606-019-0035-5. ISSN 2398-2683. S2CID 198921976. Archived from the original on 2022-11-19. Retrieved 2022-09-14.
  8. Staniszewska, Anna; Mąka, Agnieszka; Religioni, Urszula; Olejniczak, Dominik (2017-07-10). "Sleep disturbances among patients with epilepsy". Neuropsychiatric Disease and Treatment. 13: 1797–1803. doi:10.2147/ndt.s136868. ISSN 1178-2021. PMC 5513823. PMID 28744129. Archived from the original on 2022-11-19. Retrieved 2022-09-14.
  9. Licchetta, Laura; Poda, Roberto; Vignatelli, Luca; Pippucci, Tommaso; Zenesini, Corrado; Menghi, Veronica; Mostacci, Barbara; Baldassari, Sara; Provini, Federica; Tinuper, Paolo; Bisulli, Francesca (2018-08-01). "Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy". Sleep Medicine. 48: 8–15. doi:10.1016/j.sleep.2018.03.027. hdl:11585/660642. ISSN 1389-9457. PMID 29843024. S2CID 44135973. Archived from the original on 2022-11-19. Retrieved 2022-09-14.
  10. Licchetta, Laura; Bisulli, Francesca; Vignatelli, Luca; Zenesini, Corrado; Di Vito, Lidia; Mostacci, Barbara; Rinaldi, Claudia; Trippi, Irene; Naldi, Ilaria; Plazzi, Giuseppe; Provini, Federica; Tinuper, Paolo (2016-11-23). "Sleep-related hypermotor epilepsy". Neurology. 88 (1): 70–77. doi:10.1212/wnl.0000000000003459. ISSN 0028-3878. PMC 5200852. PMID 27881627. Archived from the original on 2022-11-19. Retrieved 2022-09-14.
  11. Steinlein, Ortrud K.; Mulley, John C.; Propping, Peter; Wallace, Robyn H.; Phillips, Hilary A.; Sutherland, Grant R.; Scheffer, Ingrid E.; Berkovic, Samuel F. (1995-10-01). "A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy". Nature Genetics. 11 (2): 201–203. doi:10.1038/ng1095-201. ISSN 1061-4036. PMID 7550350. S2CID 210163. Archived from the original on 2022-11-19. Retrieved 2022-09-14.
  12. Weckhuysen, Sarah; Marsan, Elise; Lambrecq, Virginie; Marchal, Cécile; Morin-Brureau, Mélanie; An-Gourfinkel, Isabelle; Baulac, Michel; Fohlen, Martine; Kallay Zetchi, Christine; Seeck, Margitta; de la Grange, Pierre; Dermaut, Bart; Meurs, Alfred; Thomas, Pierre; Chassoux, Francine (2016-05-13). "Involvement of GATOR complex genes in familial focal epilepsies and focal cortical dysplasia". Epilepsia. 57 (6): 994–1003. doi:10.1111/epi.13391. ISSN 0013-9580. PMID 27173016. S2CID 205117981.
  13. 13.0 13.1 13.2 13.3 13.4 13.5 13.6 Tinuper, Paolo; Bisulli, Francesca; Cross, J. H.; Hesdorffer, Dale; Kahane, Philippe; Nobili, Lino; Provini, Federica; Scheffer, Ingrid E.; Tassi, Laura; Vignatelli, Luca; Bassetti, Claudio; Cirignotta, Fabio; Derry, Christopher; Gambardella, Antonio; Guerrini, Renzo (2016-05-10). "Definition and diagnostic criteria of sleep-related hypermotor epilepsy". Neurology. 86 (19): 1834–1842. doi:10.1212/WNL.0000000000002666. ISSN 1526-632X. PMC 4862248. PMID 27164717.
  14. Winslow, Forbes. Obscure diseases of the brain and mind, p 311
  15. Shneerson, John M. (2005) Sleep Medicine: A Guide to Sleep and its Disorders, p 221
  16. Atkins, Ringrose. REPORT ON NERVOUS AND MENTAL DISEASE Dublin Journal of Medical Science, Volume 67
  17. Lim, Siew-Na; Cheng, Mei-Yun; Hsieh, Hsiang-Yao; Chiang, Hsing-I; Wu, Tony (May 2021). "Treatment of pharmacoresistant sleep-related hypermotor epilepsy (SHE) with the selective AMPA receptor antagonist perampanel". Sleep Medicine. 81: 382–386. doi:10.1016/j.sleep.2020.12.020. ISSN 1389-9457. PMID 33831666. S2CID 233193906. Archived from the original on 2022-11-19. Retrieved 2022-09-14.
  18. Licchetta, Laura; Bisulli, Francesca; Vignatelli, Luca; Zenesini, Corrado; Di Vito, Lidia; Mostacci, Barbara; Rinaldi, Claudia; Trippi, Irene; Naldi, Ilaria; Plazzi, Giuseppe; Provini, Federica; Tinuper, Paolo (3 January 2017). "Sleep-related hypermotor epilepsy". Neurology. 88 (1): 70–77. doi:10.1212/WNL.0000000000003459. ISSN 0028-3878. Retrieved 19 November 2022.
  19. Lugaresi, E.; Cirignotta, F. (1981). "Hypnogenic paroxysmal dystonia: epileptic seizure or a new syndrome?". Sleep. 4 (2): 129–138. doi:10.1093/sleep/4.2.129. ISSN 0161-8105. PMID 7256073. Archived from the original on 2022-08-31. Retrieved 2022-09-14.
  20. Waterman, K.; Purves, S. J.; Kosaka, B.; Strauss, E.; Wada, J. A. (1987-04-01). "An epileptic syndrome caused by mesial frontal lobe seizure foci". Neurology. 37 (4): 577–582. doi:10.1212/wnl.37.4.577. ISSN 0028-3878. PMID 3104818. S2CID 44968716. Archived from the original on 2022-08-31. Retrieved 2022-09-14.
  21. Williamson, P. D.; Spencer, D. D.; Spencer, S. S.; Novelly, R. A.; Mattson, R. H. (1985-10-01). "Complex partial seizures of frontal lobe origin". Annals of Neurology. 18 (4): 497–504. doi:10.1002/ana.410180413. ISSN 0364-5134. PMID 4073842. S2CID 43791208. Archived from the original on 2022-08-31. Retrieved 2022-09-14.

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