Research & Literature

Prevalence of nocturnal frontal lobe epilepsy in the adult population of Bologna and Modena, Emilia-Romagna region, Italy.

Vignatelli L, Bisulli F, Giovannini G, et al.

Sleep 2015; (38(3)):479-85 doi:10.5665/sleep.4514.

The role of nicotinic acetylcholine receptors in autosomal dominant nocturnal frontal lobe epilepsy.

Becchetti A, Aracri P, Meneghini S, et al.

Frontiers in physiology 2015; (6()):22 doi:10.3389/fphys.2015.00022.

Nocturnal frontal lobe epilepsy with paroxysmal arousals due to CHRNA2 loss of function.

Conti V, Aracri P, Chiti L, et al.

Neurology 2015; (84(15)):1520-8 doi:10.1212/WNL.0000000000001471.

Sleep Related Hypermotor Seizures with a Right Parietal Onset.

Gibbs SA, Figorilli M, Casaceli G, et al.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine 2015; (11(8)):953-5 doi:10.5664/jcsm.4952.

Mutations in KCNT1 cause a spectrum of focal epilepsies.

Møller RS, Heron SE, Larsen LH, et al.

Epilepsia 2015; (56(9)):e114-20 doi:10.1111/epi.13071.

Semiology of hypermotor (hyperkinetic) seizures.

Alqadi K, Sankaraneni R, Thome U, Kotagal P

Epilepsy & behavior : E&B 2016; (54()):137-41.

Nocturnal frontal lobe epilepsy caused by a mutation in the GATOR1 complex gene NPRL3.

Korenke GC, Eggert M, Thiele H, et al.

Epilepsia 2016; (57(3)):e60-3 doi:10.1111/epi.13307.

The Clinical Phenotype of Idiopathic Rapid Eye Movement Sleep Behavior Disorder at Presentation: A Study in 203 Consecutive Patients.

Fernández-Arcos A, Iranzo A, Serradell M, et al.

Sleep 2016; (39(1)):121-32 doi:10.5665/sleep.5332.

Definition and diagnostic criteria of sleep-related hypermotor epilepsy.

Tinuper P, Bisulli F, Cross JH, et al.

Neurology 2016; (86(19)):1834-42 doi:10.1212/WNL.0000000000002666.

Temporal lobe origin is common in patients who have undergone epilepsy surgery for hypermotor seizures.

Arain AM, Azar NJ, Lagrange AH, et al.

Epilepsy & behavior : E&B 2016; (64(Pt A)):57-61 doi:10.1016/j.yebeh.2016.09.019.

Sleep-related hypermotor epilepsy: Long-term outcome in a large cohort.

Licchetta L, Bisulli F, Vignatelli L, et al.

Neurology 2017; (88(1)):70-77 doi:10.1212/WNL.0000000000003459.

From nocturnal frontal lobe epilepsy to Sleep-Related Hypermotor Epilepsy: A 35-year diagnostic challenge.

Tinuper P, Bisulli F

Seizure 2017; (44()):87-92 doi:10.1016/j.seizure.2016.11.023.

Acquired Sleep-Related Hypermotor Epilepsy with Disrupted White Matter Tracts Assessed by Multishell Diffusion Magnetic Resonance Imaging.

Tchopev ZN, Yeh PH, Morgan GW, et al.

Frontiers in neurology 2018; (9()):6 doi:10.3389/fneur.2018.00006.

A case series of lacosamide as adjunctive therapy in refractory sleep-related hypermotor epilepsy (previously nocturnal frontal lobe epilepsy).

Samarasekera SR, Berkovic SF, Scheffer IE

Journal of sleep research 2018; (27(5)):e12669 doi:10.1111/jsr.12669.

Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy.

Licchetta L, Poda R, Vignatelli L, et al.

Sleep medicine 2018; (48()):8-15 doi:10.1016/j.sleep.2018.03.027.

The landscape of epilepsy-related GATOR1 variants.

Baldassari S, Picard F, Verbeek NE, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(2)):398-408 doi:10.1038/s41436-018-0060-2.

Sleep-related hypermotor epilepsy: prevalence, impact and management strategies.

Menghi V, Bisulli F, Tinuper P, Nobili L

Nature and science of sleep 2018; (10()):317-326 doi:10.2147/NSS.S152624.

Multimodal nocturnal seizure detection in a residential care setting: A long-term prospective trial.

Arends J, Thijs RD, Gutter T, et al.

Neurology 2018; (91(21)):e2010-e2019 doi:10.1212/WNL.0000000000006545.

Clinical features of sleep-related hypermotor epilepsy in relation to the seizure-onset zone: A review of 135 surgically treated cases.

Gibbs SA, Proserpio P, Francione S, et al.

Epilepsia 2019; (60(4)):707-717 doi:10.1111/epi.14690.

Treatment Responsiveness in KCNT1-Related Epilepsy.

Fitzgerald MP, Fiannacca M, Smith DM, et al.

Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics 2019; (16(3)):848-857 doi:10.1007/s13311-019-00739-y.

Insights into sleep-related hyper-motor epilepsy: an Egyptian case series.

Kishk NA, Nawito AM, Ebraheim AM, Rizk H

Neurological research 2019; (41(9)):771-779 doi:10.1080/01616412.2019.1611191.

Polysomnographic features differentiating disorder of arousals from sleep-related hypermotor epilepsy.

Proserpio P, Loddo G, Zubler F, et al.

Sleep 2019; (42(12)) doi:10.1093/sleep/zsz166.

Sleep-related hypermotor epilepsy: A prediction cohort study on sleep/awake patterns of seizures.

Licchetta L, Vignatelli L, Zenesini C, et al.

Epilepsia 2019; (60(11)):e115-e120 doi:10.1111/epi.16369.

Sleep-related hypermotor epilepsy (SHE): Contribution of known genes in 103 patients.

Licchetta L, Pippucci T, Baldassari S, et al.

Seizure 2020; (74()):60-64 doi:10.1016/j.seizure.2019.11.009.

Epilepsy with migrating focal seizures: KCNT1 mutation hotspots and phenotype variability.

Barcia G, Chemaly N, Kuchenbuch M, et al.

Neurology. Genetics 2019; (5(6)):e363 doi:10.1212/NXG.0000000000000363.

Pathogenesis and pathophysiology of autosomal dominant sleep-related hypermotor epilepsy with S284L-mutant α4 subunit of nicotinic ACh receptor.

Fukuyama K, Fukuzawa M, Shiroyama T, Okada M

British journal of pharmacology 2020; (177(9)):2143-2162 doi:10.1111/bph.14974.

Sleep related epilepsy in focal cortical dysplasia type 2: Insights from sleep recordings in presurgical evaluation.

Eltze CM, Landre E, Soufflet C, Chassoux F

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology 2020; (131(3)):609-615 doi:10.1016/j.clinph.2019.11.055.

Therapy in Sleep-Related Hypermotor Epilepsy (SHE).

Asioli GM, Rossi S, Bisulli F, et al.

Current treatment options in neurology 2020; (22(1)):1 doi:10.1007/s11940-020-0610-1.

Prone, lateral, or supine positioning at seizure onset determines the postictal body position: A multicenter video-EEG monitoring cohort study.

Mahr K, Bergmann MP, Kay L, et al.

Seizure 2020; (76()):173-178 doi:10.1016/j.seizure.2020.02.008.

Seizures with paroxysmal arousals in sleep-related hypermotor epilepsy (SHE): Dissecting epilepsy from NREM parasomnias.

Loddo G, Baldassarri L, Zenesini C, et al.

Epilepsia 2020; (61(10)):2194-2202 doi:10.1111/epi.16659.

[Advances in sleep-related hypermotor epilepsy].

Xu J, Jin B, Zhang L, Wang S

Zhejiang da xue xue bao. Yi xue ban = Journal of Zhejiang University. Medical sciences 2020; (49(4)):425-430 doi:10.3785/j.issn.1008-9292.2020.08.04.

Nicotinic Receptors in Sleep-Related Hypermotor Epilepsy: Pathophysiology and Pharmacology.

Becchetti A, Grandi LC, Colombo G, et al.

Brain sciences 2020; (10(12)) doi:10.3390/brainsci10120907.

Commonalities and Differences in NREM Parasomnias and Sleep-Related Epilepsy: Is There a Continuum Between the Two Conditions?

Mutti C, Bernabè G, Barozzi N, et al.

Frontiers in neurology 2020; (11()):600026 doi:10.3389/fneur.2020.600026.

Sleep-Related Hypermotor Epilepsy vs Disorders of Arousal in Adults: A Step-Wise Approach to Diagnosis.

Montini A, Loddo G, Baldelli L, et al.

Chest 2021; (160(1)):319-329 doi:10.1016/j.chest.2021.01.059.

[SUDEP in brief - knowledge and practice recommendations on sudden unexpected death in epilepsy].

Surges R, Conrad S, Hamer HM, et al.

Der Nervenarzt 2021; (92(8)):809-815 doi:10.1007/s00115-021-01075-3.

Different faces of frontal lobe epilepsy: The clinical, electrophysiologic, and imaging experience of a tertiary center.

Erturk Cetin O, Sirin NG, Elmali AD, et al.

Clinical neurology and neurosurgery 2021; (203()):106532 doi:10.1016/j.clineuro.2021.106532.

Sleep-related hypermotor epilepsy associated mutations uncover important kinetic roles of α4β2- nicotinic acetylcholine receptor intracellular structures.

Weltzin MM, George AA, Lukas RJ, Whiteaker P

PloS one 2021; (16(3)):e0247825 doi:10.1371/journal.pone.0247825.

Treatment of pharmacoresistant sleep-related hypermotor epilepsy (SHE) with the selective AMPA receptor antagonist perampanel.

Lim SN, Cheng MY, Hsieh HY, et al.

Sleep medicine 2021; (81()):382-386 doi:10.1016/j.sleep.2020.12.020.

KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.

Bonardi CM, Heyne HO, Fiannacca M, et al.

Brain : a journal of neurology 2021; (144(12)):3635-3650 doi:10.1093/brain/awab219.

REM sleep behavior disorder: Mimics and variants.

Antelmi E, Lippolis M, Biscarini F, et al.

Sleep medicine reviews 2021; (60()):101515 doi:10.1016/j.smrv.2021.101515.

Sleep-Related Hypermotor Epilepsy: Etiology, Electro-Clinical Features, and Therapeutic Strategies.

Wan H, Wang X, Chen Y, et al.

Nature and science of sleep 2021; (13()):2065-2084 doi:10.2147/NSS.S330986.

Autosomal dominant sleep-related hypermotor epilepsy caused by a previously unreported CHRNA4 variant.

Nielsen TØ, Herlin MK, Linnet KM, et al.

European journal of medical genetics 2022; (65(3)):104444 doi:10.1016/j.ejmg.2022.104444.

Sleep-related hypermotor epilepsy with genetic diagnosis: description of a case series in a tertiary referral hospital.

Arenas-Cabrera C, Baena-Palomino P, Sánchez-García J, et al.

Journal of central nervous system disease 2022; (14()):11795735211060114 doi:10.1177/11795735211060114.

The additional diagnostic benefits of performing both video-polysomnography and prolonged video-EEG-monitoring: When and why.

Bergmann M, Brandauer E, Stefani A, et al.

Clinical neurophysiology practice 2022; (7()):98-102 doi:10.1016/j.cnp.2022.02.002.

Automated seizure detection with noninvasive wearable devices: A systematic review and meta-analysis.

Naganur V, Sivathamboo S, Chen Z, et al.

Epilepsia 2022; (63(8)):1930-1941 doi:10.1111/epi.17297.

Precision therapy with quinidine of KCNT1-related epileptic disorders: A systematic review.

Xu D, Chen S, Yang J, et al.

British journal of clinical pharmacology 2022; (88(12)):5096-5112 doi:10.1111/bcp.15479.

Autosomal dominant sleep-related hypermotor epilepsy associated with a novel mutation of KCNT1.

Lu J, Zhao G, Lv D, et al.

Translational neuroscience 2022; (13(1)):240-245 doi:10.1515/tnsci-2022-0241.

What respiratory physicians should know about parasomnias.

Meurling IJ, Leschziner G, Drakatos P

Breathe (Sheffield, England) 2022; (18(3)):220067 doi:10.1183/20734735.0067-2022.

Neuropsychological and Behavioral Profile in Sleep-Related Hypermotor Epilepsy (SHE) and Disorders of Arousal (DOA): A Multimodal Analysis.

Puligheddu M, Congiu P, Figorilli M, et al.

Journal of clinical medicine 2023; (12(1)) doi:10.3390/jcm12010374.

Functional evaluation of epilepsy-associated KCNT1 variants in multiple cellular systems reveals a predominant gain of function impact on channel properties.

Hinckley CA, Zhu Z, Chu JH, et al.

Epilepsia 2023; (64(8)):2126-2136 doi:10.1111/epi.17648.

Refining the electroclinical spectrum of NPRL3-related epilepsy: A novel multiplex family and literature review.

Dainelli A, Iacomino M, Rossato S, et al.

Epilepsia open 2023; (8(4)):1314-1330 doi:10.1002/epi4.12798.

Nocturnal agitation: From sleep state dissociation to sleep-related dissociative state.

Lopez R, Micoulaud-Franchi JA, Peter-Derex L, Dauvilliers Y

Revue neurologique 2023; (179(7)):675-686 doi:10.1016/j.neurol.2023.07.003.

Pearls & Oy-sters: Exquisite Response of Sleep-Related Hypermotor Epilepsy to a Nicotine Patch.

Nam S, Von Stein EL, Meador KJ, et al.

Neurology 2024; (103(7)):e209790 doi:10.1212/WNL.0000000000209790.

Sleep-related hypermotor seizures originating from the occipital lobe.

Wadi L, Khweileh M, Agashe S, et al.

Epileptic disorders : international epilepsy journal with videotape 2024; (26(6)):868-874 doi:10.1002/epd2.20285.

Hypermotor temporal lobe epilepsy revisited-expanding the spectrum.

Rudrabhatla PK, Nandana J, Vilanilam GC, et al.

Epileptic disorders : international epilepsy journal with videotape 2025; (27(2)):244-254 doi:10.1002/epd2.20327.

Epileptic Nocturnal Wanderings in a Young Female: A Rare Case Report and Review of the Literature.

Al-Attas AA, Al-Attas AA, Al-Attas MA, Swailem SK

Oman medical journal 2024; (39(6)):e701 doi:10.5001/omj.2024.37.

Theta bursts in patients with sleep-related hypermotor epilepsy: potential marker of impaired inhibitory control and its mitigation through musical stimulation.

Qiu C, Jiang Y, Tang Y, et al.

Cerebral cortex (New York, N.Y. : 1991) 2025; (35(6)) doi:10.1093/cercor/bhaf111.

Reliability and diagnostic accuracy of home video recording in differentiating sleep-related hypermotor epilepsy from disorders of arousal.

Licchetta L, Mainieri G, Loddo G, et al.

Epilepsia 2025; (66(11)):4343-4353 doi:10.1111/epi.18561.

Clinical and EEG characteristics of sleep-related hypermotor epilepsy in children.

Tan X, Liu H, Li Y, et al.

Epilepsy research 2025; (218()):107664 doi:10.1016/j.eplepsyres.2025.107664.

Emerging Role of Tripartite Synaptic Transmission in the Pathomechanism of Autosomal-Dominant Sleep-Related Hypermotor Epilepsy.

Oka T, Okubo R, Motomura E, Okada M

International journal of molecular sciences 2025; (26(19)) doi:10.3390/ijms26199671.

Genotypic and phenotypic analysis of epilepsy associated with NPRL2/NPRL3 genes.

Su S, Zhang H, Zhang Q, et al.

Seizure 2025; (133()):208-218 doi:10.1016/j.seizure.2025.10.023.

Crisis-like Seizure Exacerbations in NPRL3-related Epilepsy: Phenotypic Features and Treatment Outcomes.

Thormeyer V, Meyer Z, Polster T, et al.

Neuropediatrics 2026; (57(1)):17-26 doi:10.1055/a-2731-4858.

Hyperkinetic Seizures in Insular and Insulo-Opercular Seizure Onset: A Systematic Review.

Andrade Machado R, Acosta Diaz N, Gedela S

Clinical EEG and neuroscience 2026; 15500594261455108 doi:10.1177/15500594261455108.