Research & Literature

Eyelid myoclonia seizures in adults: An alternate look at the syndrome paradox.

Nar Senol P, Tezer FI, Saygi S

Epilepsy & behavior : E&B 2015; (45()):265-70.

Adult-onset photosensitivity: clinical significance and epilepsy syndromes including idiopathic (possibly genetic) photosensitive occipital epilepsy.

Koutroumanidis M, Tsirka V, Panayiotopoulos C

Epileptic disorders : international epilepsy journal with videotape 2015; (17(3)):275-86 doi:10.1684/epd.2015.0765.

Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.

Rudolf G, Lesca G, Mehrjouy MM, et al.

European journal of human genetics : EJHG 2016; (24(12)):1761-1770 doi:10.1038/ejhg.2016.80.

Prognostic factors in patients with refractory idiopathic generalized epilepsy.

Gomez-Ibañez A, McLachlan RS, Mirsattari SM, et al.

Epilepsy research 2017; (130()):69-73 doi:10.1016/j.eplepsyres.2017.01.011.

Unmasking of myoclonus by lacosamide in generalized epilepsy.

Birnbaum D, Koubeissi M

Epilepsy & behavior case reports 2017; (7()):28-30 doi:10.1016/j.ebcr.2016.09.006.

Photosensitive epilepsy is associated with reduced inhibition of alpha rhythm generating networks.

Vaudano AE, Ruggieri A, Avanzini P, et al.

Brain : a journal of neurology 2017; (140(4)):981-997 doi:10.1093/brain/awx009.

Juvenile myoclonic epilepsy as a spectrum disorder: A focused review.

Baykan B, Wolf P

Seizure 2017; (49()):36-41 doi:10.1016/j.seizure.2017.05.011.

Pharmacoresistant epileptic eyelid twitching in a child with a mutation in SYNGAP1.

Okazaki T, Saito Y, Hiraiwa R, et al.

Epileptic disorders : international epilepsy journal with videotape 2017; (19(3)):339-344 doi:10.1684/epd.2017.0922.

Childhood Absence Epilepsy evolving to Eyelid Myoclonia with Absence Epilepsy.

Galli J, Micheletti S, Malerba L, et al.

Seizure 2018; (61()):1-3 doi:10.1016/j.seizure.2018.07.009.

Jeavons Syndrome: Clinical Features and Response to Treatment.

Smith KM, Youssef PE, Wirrell EC, et al.

Pediatric neurology 2018; (86()):46-51 doi:10.1016/j.pediatrneurol.2018.06.001.

SYNGAP1 encephalopathy: A distinctive generalized developmental and epileptic encephalopathy.

Vlaskamp DRM, Shaw BJ, Burgess R, et al.

Neurology 2019; (92(2)):e96-e107 doi:10.1212/WNL.0000000000006729.

Management of epilepsy in pregnancy: a report from the International League Against Epilepsy Task Force on Women and Pregnancy.

Tomson T, Battino D, Bromley R, et al.

Epileptic disorders : international epilepsy journal with videotape 2019; (21(6)):497-517 doi:10.1684/epd.2019.1105.

Cognitive Function in Genetic Generalized Epilepsies: Insights From Neuropsychology and Neuroimaging.

Ratcliffe C, Wandschneider B, Baxendale S, et al.

Frontiers in neurology 2020; (11()):144 doi:10.3389/fneur.2020.00144.

An Overview of the Electroencephalographic (EEG) Features of Epilepsy with Eyelid Myoclonia (Jeavons Syndrome).

Zawar I, Pestana Knight EM

The Neurodiagnostic journal 2020; (60(2)):113-127 doi:10.1080/21646821.2020.1750879.

Pitfalls in the diagnosis of Jeavons syndrome: a study of 32 cases and review of the literature.

Reyhani A, Özkara Ç

Epileptic disorders : international epilepsy journal with videotape 2020; (22(3)):281-290 doi:10.1684/epd.2020.1162.

Characterizing Sunflower syndrome: a clinical series.

Barnett JR, Fleming BM, Geenen KR, et al.

Epileptic disorders : international epilepsy journal with videotape 2020; (22(3)):273-280 doi:10.1684/epd.2020.1161.

Novel NEXMIF gene pathogenic variant in a female patient with refractory epilepsy and intellectual disability.

Wu D, Ji C, Chen Z, Wang K

American journal of medical genetics. Part A 2020; (182(11)):2765-2772 doi:10.1002/ajmg.a.61848.

NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

Stamberger H, Hammer TB, Gardella E, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(2)):363-373 doi:10.1038/s41436-020-00988-9.

Eyelid myoclonia with absences, intellectual disability and attention deficit hyperactivity disorder: a clinical phenotype of the RORB gene mutation.

Morea A, Boero G, Demaio V, et al.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2021; (42(5)):2059-2062 doi:10.1007/s10072-020-05031-y.

Epilepsy with eyelid myoclonias (Jeavons syndrome): An electro-clinical study of 40 patients from childhood to adulthood.

Nilo A, Crespel A, Genton P, et al.

Seizure 2021; (87()):30-38 doi:10.1016/j.seizure.2021.02.028.

Eye closure sensitivity and genetic generalized epilepsies: A prospective study of 123 cases.

Yalcin AD, Surmeli R

Epilepsy research 2021; (173()):106628 doi:10.1016/j.eplepsyres.2021.106628.

Case Report: A Case of Eyelid Myoclonic Status With Tonic-Clonic Seizure and Literature Review.

Yuan Y, Yang F, Huo L, et al.

Frontiers in pediatrics 2021; (9()):671732 doi:10.3389/fped.2021.671732.

Therapeutic approach to difficult-to-treat typical absences and related epilepsy syndromes.

Mastroianni G, Ascoli M, Gasparini S, et al.

Expert review of clinical pharmacology 2021; (14(11)):1427-1433 doi:10.1080/17512433.2021.1959317.

The spectrum of epilepsy in children with 15q13.3 microdeletion syndrome.

Whitney R, Nair A, McCready E, et al.

Seizure 2021; (92()):221-229 doi:10.1016/j.seizure.2021.09.016.

Exacerbation of eyelid myoclonia in patients with epilepsy and eyelid myoclonia receiving cannabidiol.

Zawar I, Franic L, Kotagal P, Knight EP

Epileptic disorders : international epilepsy journal with videotape 2021; (23(6)):906-910 doi:10.1684/epd.2021.1338.

Eyelid myoclonia with absences related to epileptic negative myoclonus.

Daida A, Yokoyama M, Yamamoto K, et al.

Epileptic disorders : international epilepsy journal with videotape 2021; (23(6)):917-921 doi:10.1684/epd.2021.1350.

Epilepsy with Eyelid myoclonias - A diagnosis concealed in other genetic generalized epilepsies with photoparoxysmal response.

Zawar I, Toribio MGG, Xu X, et al.

Epilepsy research 2022; (181()):106886 doi:10.1016/j.eplepsyres.2022.106886.

Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences.

Cerulli Irelli E, Cocchi E, Ramantani G, et al.

Neurology 2022; (98(18)):e1865-e1876 doi:10.1212/WNL.0000000000200165.

International League Against Epilepsy classification and definition of epilepsy syndromes with onset in childhood: Position paper by the ILAE Task Force on Nosology and Definitions.

Specchio N, Wirrell EC, Scheffer IE, et al.

Epilepsia 2022; (63(6)):1398-1442 doi:10.1111/epi.17241.

Contributions of Magnetoencephalography to Understanding Mechanisms of Generalized Epilepsies: Blurring the Boundary Between Focal and Generalized Epilepsies?

Aung T, Tenney JR, Bagić AI

Frontiers in neurology 2022; (13()):831546 doi:10.3389/fneur.2022.831546.

Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.

Scheffer IE, Bennett CA, Gill D, et al.

Developmental medicine and child neurology 2023; (65(1)):50-57 doi:10.1111/dmcn.15308.

Jeavons syndrome featured with visual sensitivity existing as occipital cortex originating focal-to-generalized continuum epilepsy.

Niu Y, Gong P, Jiao X, Yang Z

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2022; (40()):51-56 doi:10.1016/j.ejpn.2022.07.006.

STAG2 microduplication in a patient with eyelid myoclonia and absences and a review of EMA-related reported genes.

Gokce-Samar Z, de Bellescize J, Arzimanoglou A, et al.

European journal of medical genetics 2022; (65(12)):104636 doi:10.1016/j.ejmg.2022.104636.

The seizures that wake up with the patient: The effect of sleep deprivation and short sleep on epilepsy with eyelid myoclonia.

Güleç B, Yasgüçlükal MA, Elmalı AD, et al.

Neurophysiologie clinique = Clinical neurophysiology 2023; (53(1)):102846 doi:10.1016/j.neucli.2023.102846.

A comprehensive narrative review of epilepsy with eyelid myoclonia.

Smith KM, Wirrell EC, Andrade DM, et al.

Epilepsy research 2023; (193()):107147 doi:10.1016/j.eplepsyres.2023.107147.

Epilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in ATP1A3.

Parfyonov M, Ivaniuk A, Parikh S, Pestana-Knight E

Epileptic disorders : international epilepsy journal with videotape 2023; (25(4)):545-548 doi:10.1002/epd2.20086.

Management of epilepsy with eyelid myoclonia: Results of an international expert consensus panel.

Smith KM, Wirrell EC, Andrade DM, et al.

Epilepsia 2023; (64(9)):2342-2350 doi:10.1111/epi.17682.

Clinical presentation and evaluation of epilepsy with eyelid myoclonia: Results of an international expert consensus panel.

Smith KM, Wirrell EC, Andrade DM, et al.

Epilepsia 2023; (64(9)):2330-2341 doi:10.1111/epi.17683.

Modified Atkins diet in children with epilepsy with eyelid myoclonia (Jeavons syndrome).

Paibool W, Schimpf S, Nordli DR, Phitsanuwong C

Epilepsy & behavior : E&B 2023; (145()):109347 doi:10.1016/j.yebeh.2023.109347.

Epilepsy with Eyelid Myoclonia Complicated by Polycystic Ovary Syndrome: Valproate Withdrawal, Vagus Nerve Stimulation, and Seizure Reduction.

Tatebayashi K, Takumi I, Matsumori T, et al.

NMC case report journal 2023; (10()):321-325 doi:10.2176/jns-nmc.2023-0083.

Dissecting genetics of spectrum of epilepsies with eyelid myoclonia by exome sequencing.

Coppola A, Krithika S, Iacomino M, et al.

Epilepsia 2024; (65(3)):779-791 doi:10.1111/epi.17859.

Molecular and Phenotypic Characterization of the RORB-Related Disorder.

Gokce-Samar Z, Vetro A, De Bellescize J, et al.

Neurology 2024; (102(2)):e207945 doi:10.1212/WNL.0000000000207945.

Care of pharmaco-resistant absence seizures in childhood.

Le Roux M, Benallegue N, Gueden S, et al.

Revue neurologique 2024; (180(4)):251-255 doi:10.1016/j.neurol.2024.01.002.

Expanding the clinical and genetic landscape of (developmental) epileptic encephalopathy with spike-and-wave activation in sleep: results from studies of a Turkish cohort.

Türkyılmaz A, Sağer SG, Tekin E, et al.

Neurogenetics 2024; (25(2)):119-130 doi:10.1007/s10048-024-00751-1.

Epilepsy with eyelid myoclonia (Jeavons syndrome): Generalized, focal, or combined generalized and focal epilepsy syndrome?

Gélisse P, Gallegos C, Nilo A, et al.

Neurophysiologie clinique = Clinical neurophysiology 2024; (54(3)):102947 doi:10.1016/j.neucli.2024.102947.

Long-term prognosis of patients with photosensitive idiopathic generalized epilepsy.

Yılmaz Erol T, Cerrahoğlu Şirin T, Görkem Şirin N, et al.

Seizure 2024; (117()):235-243 doi:10.1016/j.seizure.2024.02.019.

Are the seizures under control or unnoticed? Electroclinical evaluation of epilepsy with eyelid myoclonia.

Atacan Yasguclukal M, Gulec B, Deniz Elmali A, et al.

Epilepsy & behavior : E&B 2024; (157()):109895 doi:10.1016/j.yebeh.2024.109895.

CHD2-related epilepsy with eyelid myoclonia: Report of three cases.

Padilla H, Pinto E Vairo F, Wirrell EC, et al.

Epileptic disorders : international epilepsy journal with videotape 2025; (27(1)):90-95 doi:10.1002/epd2.20305.

Eye closure sensitivity and related EEG findings: Persistence rates and classification of epilepsy syndromes by the International League Against Epilepsy.

Mermi Dibek D, Baykan B

Epileptic disorders : international epilepsy journal with videotape 2025; (27(3)):407-419 doi:10.1002/epd2.70014.

Potential of cenobamate as a broad-spectrum antiseizure medication.

Melnick SM, Misra SN, Kamin M, et al.

Expert opinion on pharmacotherapy 2025; (26(10)):1177-1189 doi:10.1080/14656566.2025.2517352.

Epilepsy with eyelid myoclonia: A systematic review and meta-analysis.

Ahmed HS, Khashman M, Ahmed MT

Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia 2025; (140()):111535 doi:10.1016/j.jocn.2025.111535.

Valproic Acid in Women of Reproductive Potential: Panacea or Pandora's Box.

Koshy KG, Iype M

Neurology India 2025; (73(5)):967-972 doi:10.4103/neurol-india.Neurol-India-D-24-00937.

A 350 kb NEXMIF Microdeletion Identified by Chromosomal Microarray in an Adult Patient with Jeavons Syndrome.

Benvenuto M, Costantino U, Palumbo P, et al.

Genes 2026; (17(4)) doi:10.3390/genes17040448.

Epilepsy associated with SYNGAP1 gene variants: clinical features of six cases and a literature review.

Zhang W, Wang Y, Xu K, et al.

Frontiers in pediatrics 2026; (14()):1789561 doi:10.3389/fped.2026.1789561.

The role of Vagus nerve stimulation in epilepsy with eyelid myoclonia - A case series.

Snehal I, Lundstrom BN, Wong-Kisiel LC, et al.

Epilepsy & behavior : E&B 2026; (184()):111201 doi:10.1016/j.yebeh.2026.111201.

Epilepsy with eyelid myoclonia beyond the classical phenotype: Longitudinal electroclinical observations in a pediatric cohort.

Aygün H, Taşkın A, Yayıcı Köken Ö, Haspolat Ş

Epileptic disorders : international epilepsy journal with videotape 2026; doi:10.1002/epd2.70385.