Autosomal dominant sleep-related hypermotor epilepsy
Last updated 4 Aug 2025
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Sleep-related hypermotor epilepsy (SHE) is a form of epilepsy that is characterised by seizures that typically begin while a person is sleeping. The seizures often appear during childhood or adolescence and involve varying degrees of muscle (motor) activity, which can include large, complex, and repetitive movements (hyperkinetic seizures). Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a form of SHE that runs in families. The specific features of ADSHE can vary, even among members of the same family.
Description
Sleep-related hypermotor epilepsy (SHE) is a form of epilepsy that is characterised by seizures that typically begin while a person is sleeping. The seizures often appear during childhood or adolescence and involve varying degrees of muscle (motor) activity, which can include large, complex, and repetitive movements (hyperkinetic seizures). Autosomal dominant sleep-related hypermotor epilepsy (ADSHE) is a form of SHE that runs in families. The specific features of ADSHE can vary, even among members of the same family.
People with ADSHE typically have seizures that start in a specific region of the brain (focal seizures). The seizures often occur in clusters during a phase of sleep called nonrapid eye movement (non-REM) sleep. They typically begin and end abruptly, with each seizure lasting no more than 2 minutes. Some seizures are characterised by minor motor activity that may simply wake a person from sleep, while others are more complex and include repetitive motor activity, such as flinging or throwing motions of the arms and bicycling movements of the legs. Seizures may also include muscle stiffness or abnormal body positions. Some affected individuals may get out of bed and wander around during a seizure, which can be mistaken for sleepwalking. Rapid breathing (hyperventilation); a sense of breathlessness; and vocalizations, such as moaning or crying, can also occur.
In some types of epilepsy, a pattern of unusual feelings or sensations (aura) occurs before the seizure. Upon waking from sleep, people with ADSHE may experience an aura that warns them of an oncoming seizure. Auras in people with ADSHE can be associated with a feeling of numbness, shivering, a sense of fear, dizziness (vertigo), and a feeling of falling or being pushed.
People with ADSHE typically develop seizures before the age of 20 years. The episodes tend to become milder and less frequent over time. Although many people with ADSHE have seizures that can be effectively managed with medication, approximately 30 percent of affected individuals have seizures that become resistant to medication.
Psychiatric disorders, behavioural problems, and intellectual disabilities have been reported in some individuals with ADSHE. It is unclear whether these additional features are directly related to the seizures or to the underlying genetic cause.
Inheritance patterns
The source lists the following possible inheritance patterns: Autosomal dominant+New variant. More than one pattern can apply in different cases.
Related genes
Other names
ADNFLE
ADSHE
Autosomal dominant nocturnal frontal lobe epilepsy
Autosomal dominant sleep-related hypermotor (hyperkinetic) epilepsy
ENFL
Nocturnal frontal lobe epilepsy
Sleep-related hypermotor epilepsy
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Further reading and references
- Autosomal dominant sleep-related hypermotor epilepsy ; MedlinePlus, National Library of Medicine.
- Chen ZH, Wang C, Zhuo MQ, Zhai QX, Chen Q, Guo YX, Zhang YX, Gui J, Tang ZH, Zeng XL. Exome sequencing identified a novel missense mutation c.464G>A (p.G155D) in Ca2+-binding protein 4 (CABP4) in a Chinese pedigree with autosomal dominant nocturnal frontal lobe epilepsy. Oncotarget. 2017 Sep 5;8(45):78940-78947. doi: 10.18632/oncotarget.20694. eCollection 2017 Oct 3.
- 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 Sep;17(3):361-2. doi: 10.1111/j.1365-2869.2008.00674.x. No abstract available.
- De Marco EV, Gambardella A, Annesi F, Labate A, Carrideo S, Forabosco P, Civitelli D, Candiano IC, Tarantino P, Annesi G, Quattrone A. Further evidence of genetic heterogeneity in families with autosomal dominant nocturnal frontal lobe epilepsy. Epilepsy Res. 2007 Apr;74(1):70-3. doi: 10.1016/j.eplepsyres.2006.12.006. Epub 2007 Feb 26.
- di Corcia G, Blasetti A, De Simone M, Verrotti A, Chiarelli F. Recent advances on autosomal dominant nocturnal frontal lobe epilepsy: "understanding the nicotinic acetylcholine receptor (nAChR)". Eur J Paediatr Neurol. 2005;9(2):59-66. doi: 10.1016/j.ejpn.2004.12.006.
- Hayman M, Scheffer IE, Chinvarun Y, Berlangieri SU, Berkovic SF. Autosomal dominant nocturnal frontal lobe epilepsy: demonstration of focal frontal onset and intrafamilial variation. Neurology. 1997 Oct;49(4):969-75. doi: 10.1212/wnl.49.4.969.
- Heron SE, Smith KR, Bahlo M, Nobili L, Kahana E, Licchetta L, Oliver KL, Mazarib A, Afawi Z, Korczyn A, Plazzi G, Petrou S, Berkovic SF, Scheffer IE, Dibbens LM. Missense mutations in the sodium-gated potassium channel gene KCNT1 cause severe autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 2012 Nov;44(11):1188-90. doi: 10.1038/ng.2440. Epub 2012 Oct 21.
- Hildebrand MS, Tankard R, Gazina EV, Damiano JA, Lawrence KM, Dahl HH, Regan BM, Shearer AE, Smith RJ, Marini C, Guerrini R, Labate A, Gambardella A, Tinuper P, Lichetta L, Baldassari S, Bisulli F, Pippucci T, Scheffer IE, Reid CA, Petrou S, Bahlo M, Berkovic SF. PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy. Ann Clin Transl Neurol. 2015 Aug;2(8):821-30. doi: 10.1002/acn3.224. Epub 2015 Jul 3.
- Ishida S, Picard F, Rudolf G, Noe E, Achaz G, Thomas P, Genton P, Mundwiller E, Wolff M, Marescaux C, Miles R, Baulac M, Hirsch E, Leguern E, Baulac S. Mutations of DEPDC5 cause autosomal dominant focal epilepsies. Nat Genet. 2013 May;45(5):552-5. doi: 10.1038/ng.2601. Epub 2013 Mar 31.
- Kurahashi H, Hirose S. Autosomal Dominant Sleep-Related Hypermotor (Hyperkinetic) Epilepsy. 2002 May 16 [updated 2023 Mar 23]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1169/
- Licchetta L, Bisulli F, Vignatelli L, Zenesini C, Di Vito L, Mostacci B, Rinaldi C, Trippi I, Naldi I, Plazzi G, Provini F, Tinuper P. Sleep-related hypermotor epilepsy: Long-term outcome in a large cohort. Neurology. 2017 Jan 3;88(1):70-77. doi: 10.1212/WNL.0000000000003459. Epub 2016 Nov 23.
- Licchetta L, Pippucci T, Baldassari S, Minardi R, Provini F, Mostacci B, Plazzi G, Tinuper P, Bisulli F; Collaborative Group of Italian League Against Epilepsy (LICE) Genetic Study Group on SHE. Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients. Seizure. 2020 Jan;74:60-64. doi: 10.1016/j.seizure.2019.11.009. Epub 2019 Nov 23.
- Licchetta L, Poda R, Vignatelli L, Pippucci T, Zenesini C, Menghi V, Mostacci B, Baldassari S, Provini F, Tinuper P, Bisulli F. Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy. Sleep Med. 2018 Aug;48:8-15. doi: 10.1016/j.sleep.2018.03.027. Epub 2018 Apr 30.
- Marini C, Guerrini R. The role of the nicotinic acetylcholine receptors in sleep-related epilepsy. Biochem Pharmacol. 2007 Oct 15;74(8):1308-14. doi: 10.1016/j.bcp.2007.06.030. Epub 2007 Jun 23.
- Riney K, Bogacz A, Somerville E, Hirsch E, Nabbout R, Scheffer IE, Zuberi SM, Alsaadi T, Jain S, French J, Specchio N, Trinka E, Wiebe S, Auvin S, Cabral-Lim L, Naidoo A, Perucca E, Moshe SL, Wirrell EC, Tinuper P. International League Against Epilepsy classification and definition of epilepsy syndromes with onset at a variable age: position statement by the ILAE Task Force on Nosology and Definitions. Epilepsia. 2022 Jun;63(6):1443-1474. doi: 10.1111/epi.17240. Epub 2022 May 3.
- Scheffer IE, Bhatia KP, Lopes-Cendes I, Fish DR, Marsden CD, Andermann E, Andermann F, Desbiens R, Keene D, Cendes F, et al. Autosomal dominant nocturnal frontal lobe epilepsy. A distinctive clinical disorder. Brain. 1995 Feb;118 ( Pt 1):61-73. doi: 10.1093/brain/118.1.61.
- Steinlein OK, Mulley JC, Propping P, Wallace RH, Phillips HA, Sutherland GR, Scheffer IE, Berkovic SF. A missense mutation in the neuronal nicotinic acetylcholine receptor alpha 4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nat Genet. 1995 Oct;11(2):201-3. doi: 10.1038/ng1095-201.
- Tinuper P, Bisulli F, Cross JH, Hesdorffer D, Kahane P, Nobili L, Provini F, Scheffer IE, Tassi L, Vignatelli L, Bassetti C, Cirignotta F, Derry C, Gambardella A, Guerrini R, Halasz P, Licchetta L, Mahowald M, Manni R, Marini C, Mostacci B, Naldi I, Parrino L, Picard F, Pugliatti M, Ryvlin P, Vigevano F, Zucconi M, Berkovic S, Ottman R. Definition and diagnostic criteria of sleep-related hypermotor epilepsy. Neurology. 2016 May 10;86(19):1834-42. doi: 10.1212/WNL.0000000000002666. Epub 2016 Apr 15.
- Vignatelli L, Bisulli F, Provini F, Naldi I, Pittau F, Zaniboni A, Montagna P, Tinuper P. Interobserver reliability of video recording in the diagnosis of nocturnal frontal lobe seizures. Epilepsia. 2007 Aug;48(8):1506-11. doi: 10.1111/j.1528-1167.2007.01121.x. Epub 2007 May 1.
- Yang Y, Tuo J, Zhang J, Xu Z, Luo Z. Pathogenic genes implicated in sleep-related hypermotor epilepsy: a research progress update. Front Neurol. 2024 Jun 20;15:1416648. doi: 10.3389/fneur.2024.1416648. eCollection 2024.
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