Sleep-related hypermotor epilepsy

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Sleep-related hypermotor epilepsy
Specialty Neurology

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]

Contents

History

In 1981, Lugaresi and Cirignotta described a group of 5 patients with paroxysmal attacks of violent movements of the extremities and dystonic-tonic posturing. [6] 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. [7] [8] 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. [9] 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. [9]

Symptoms

Seizures in SHE are brief and usually have an abrupt onset and offset. [10] The observable clinical manifestations may consist of rapid, hyperkinetic movements as well as tonic/dystonic posturing of the limbs. [10] Other potential manifestations include brief arousals from sleep or wandering ambulatory behavior. [11] 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. [11] The frequency of seizures can be very high and as many as dozens may occur every night which results in poor sleep quality. [12] In addition, many patients with SHE suffer from cognitive impairment and have behavioral/psychological problems. [10] [13] 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). [14] Both genetic, structural and multifactorial etiologies can occur. [5] In structural cases, the most common pathology is focal cortical dysplasia. [10]

The first described mutation in SHE was found in genes coding for the neuronal nicotinic acetylcholine receptor. [15] Since then multiple other genes have been identified including KCNT1, DEPDC5, NPRL2, NPRL3, PRIMA1, CABP4, CRH and others. [10] In some cases, structural and genetic etiologies can coexist such as with mutations in DEPDC5. [16]

Diagnosis

The condition may be difficult to diagnose and misdiagnosis is common. [9] The subject may be unaware they have a seizure disorder. [17] To others, the involuntary movements made during sleep may appear no different from those typical of normal sleep. [18] 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. [19] 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. [9] Polysomnography can be helpful distinguishing SHE from parasomnias as they often arise from different stages of sleep. [9]

Treatment

Like other forms of epilepsy, SHE can be treated with anti-seizure medications. [10] 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. [9] The relative efficacy of different medications has not been systematically investigated. [9] 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] [20] 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]

Related Research Articles

<span class="mw-page-title-main">Epilepsy</span> Group of neurological disorders causing seizures

Epilepsy is a group of non-communicable neurological disorders characterized by recurrent epileptic seizures. An epileptic seizure is the clinical manifestation of an abnormal, excessive, purposeless and synchronized electrical discharge in the brain cells called neurons. The occurrence of two or more unprovoked seizures defines epilepsy. The occurrence of just one seizure may warrant the definition in a more clinical usage where recurrence may be able to be prejudged. Epileptic seizures can vary from brief and nearly undetectable periods to long periods of vigorous shaking due to abnormal electrical activity in the brain. These episodes can result in physical injuries, either directly such as broken bones or through causing accidents. In epilepsy, seizures tend to recur and may have no immediate underlying cause. Isolated seizures that are provoked by a specific cause such as poisoning are not deemed to represent epilepsy. People with epilepsy may be treated differently in various areas of the world and experience varying degrees of social stigma due to the alarming nature of their symptoms.

<span class="mw-page-title-main">Seizure</span> Period of symptoms due to excessive or synchronous neuronal brain activity

An epileptic seizure, informally known as a seizure, is a period of symptoms due to abnormally excessive or synchronous neuronal activity in the brain. Outward effects vary from uncontrolled shaking movements involving much of the body with loss of consciousness, to shaking movements involving only part of the body with variable levels of consciousness, to a subtle momentary loss of awareness. Most of the time these episodes last less than two minutes and it takes some time to return to normal. Loss of bladder control may occur.

A headache is often present in patients with epilepsy. If the headache occurs in the vicinity of a seizure, it is defined as peri-ictal headache, which can occur either before (pre-ictal) or after (post-ictal) the seizure, to which the term ictal refers. An ictal headache itself may or may not be an epileptic manifestation. In the first case it is defined as ictal epileptic headache or simply epileptic headache. It is a real painful seizure, that can remain isolated or be followed by other manifestations of the seizure. On the other hand, the ictal non-epileptic headache is a headache that occurs during a seizure but it is not due to an epileptic mechanism. When the headache does not occur in the vicinity of a seizure it is defined as inter-ictal headache. In this case it is a disorder autonomous from epilepsy, that is a comorbidity.

Psychogenic non-epileptic seizures (PNES), which have been more recently classified as functional seizures, are events resembling an epileptic seizure, but without the characteristic electrical discharges associated with epilepsy. PNES fall under the category of disorders known as functional neurological disorders (FND), also known as conversion disorders. These are typically treated by psychologists or psychiatrists. PNES has previously been called pseudoseizures, psychogenic seizures, and hysterical seizures, but these terms have fallen out of favor.

Frontal lobe epilepsy (FLE) is a neurological disorder that is characterized by brief, recurring seizures arising in the frontal lobes of the brain, that often occur during sleep. It is the second most common type of epilepsy after temporal lobe epilepsy (TLE), and is related to the temporal form in that both forms are characterized by partial (focal) seizures.

<span class="mw-page-title-main">Seizure response dog</span> Assists person during or immediately before or after a seizure

A seizure response dog (SRD) is a dog demonstrating specific assisting behaviour during or immediately after a person's epileptic seizure or other seizure. When reliably trained such dogs can serve as service dogs for people with epilepsy.

Sudden unexpected death in epilepsy (SUDEP) is a fatal complication of epilepsy. It is defined as the sudden and unexpected, non-traumatic and non-drowning death of a person with epilepsy, without a toxicological or anatomical cause of death detected during the post-mortem examination.

<span class="mw-page-title-main">Ring chromosome 20 syndrome</span> Medical condition

Ring chromosome 20, ring-shaped chromosome 20 or r(20) syndrome is a rare human chromosome abnormality where the two arms of chromosome 20 fuse to form a ring chromosome. The syndrome is associated with epileptic seizures, behaviour disorders and intellectual disability.

Epilepsy surgery involves a neurosurgical procedure where an area of the brain involved in seizures is either resected, ablated, disconnected or stimulated. The goal is to eliminate seizures or significantly reduce seizure burden. Approximately 60% of all people with epilepsy have focal epilepsy syndromes. In 15% to 20% of these patients, the condition is not adequately controlled with anticonvulsive drugs. Such patients are potential candidates for surgical epilepsy treatment.

Transient epileptic amnesia (TEA) is a rare but probably underdiagnosed neurological condition which manifests as relatively brief and generally recurring episodes of amnesia caused by underlying temporal lobe epilepsy. Though descriptions of the condition are based on fewer than 100 cases published in the medical literature, and the largest single study to date included 50 people with TEA, TEA offers considerable theoretical significance as competing theories of human memory attempt to reconcile its implications.

Generally, seizures are observed in patients who do not have epilepsy. There are many causes of seizures. Organ failure, medication and medication withdrawal, cancer, imbalance of electrolytes, hypertensive encephalopathy, may be some of its potential causes. The factors that lead to a seizure are often complex and it may not be possible to determine what causes a particular seizure, what causes it to happen at a particular time, or how often seizures occur.

Migralepsy is a rare condition in which a migraine is followed, within an hour period, by an epileptic seizure. Because of the similarities in signs, symptoms, and treatments of both conditions, such as the neurological basis, the psychological issues, and the autonomic distress that is created from them, they individually increase the likelihood of causing the other. However, also because of the sameness, they are often misdiagnosed for each other, as migralepsy rarely occurs.

Epilepsy is a neurological condition in which a person experiences recurrent episodes of unprovoked seizures. A seizure is an abnormal electrical brain activity that can cause intellectual, emotional, and social consequences. Epilepsy is one of most common brain disorders in the United States. Epilepsy is more common among children than adults affecting about 6 out of 1000 US children that are between the age of 0 to 5 years old. Children may overcome seizures with proper and effective treatments. Treatment options for epilepsy include medications, diet, and surgery. Diet and surgery are considered for children who have medication resistant epilepsy.

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References

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  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.
  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. 1 2 3 4 5 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.
  5. 1 2 3 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.
  6. ↑ 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.
  7. ↑ 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.
  8. ↑ 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.
  9. 1 2 3 4 5 6 7 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.
  10. 1 2 3 4 5 6 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.
  11. 1 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). doi: 10.1186/s41606-019-0035-5 . ISSN   2398-2683. S2CID   198921976.
  12. ↑ 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.
  13. ↑ 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.
  14. ↑ 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.
  15. ↑ 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.
  16. ↑ 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.
  17. ↑ Winslow, Forbes. Obscure diseases of the brain and mind, p 311
  18. ↑ Shneerson, John M. (2005) Sleep Medicine: A Guide to Sleep and its Disorders, p 221
  19. ↑ Atkins, Ringrose. REPORT ON NERVOUS AND MENTAL DISEASE Dublin Journal of Medical Science, Volume 67
  20. ↑ 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.

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