Sex-based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia.
Jeavons syndrome
catamenial seizures
drug resistance
genetic generalized epilepsy (GGE)
photosensitivity
Journal
Epilepsia
ISSN: 1528-1167
Titre abrégé: Epilepsia
Pays: United States
ID NLM: 2983306R
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
revised:
30
03
2023
received:
07
02
2023
accepted:
03
04
2023
medline:
5
6
2023
pubmed:
7
4
2023
entrez:
6
4
2023
Statut:
ppublish
Résumé
Although a striking female preponderance has been consistently reported in epilepsy with eyelid myoclonia (EEM), no study has specifically explored the variability of clinical presentation according to sex in this syndrome. Here, we aimed to investigate sex-specific electroclinical differences and prognostic determinants in EEM. Data from 267 EEM patients were retrospectively analyzed by the EEM Study Group, and a dedicated multivariable logistic regression analysis was developed separately for each sex. We found that females with EEM showed a significantly higher rate of persistence of photosensitivity and eye closure sensitivity at the last visit, along with a higher prevalence of migraine with/without aura, whereas males with EEM presented a higher rate of borderline intellectual functioning/intellectual disability. In female patients, multivariable logistic regression analysis revealed age at epilepsy onset, eyelid myoclonia status epilepticus, psychiatric comorbidities, and catamenial seizures as significant predictors of drug resistance. In male patients, a history of febrile seizures was the only predictor of drug resistance. Hence, our study reveals sex-specific differences in terms of both electroclinical features and prognostic factors. Our findings support the importance of a sex-based personalized approach in epilepsy care and research, especially in genetic generalized epilepsies.
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
e105-e111Investigateurs
Giacomo Fisco
(G)
Stefano Meletti
(S)
Natalia Liukshina
(N)
Tatiana Tomenko
(T)
Giuseppe Gobbi
(G)
Daniela Buti
(D)
Susanna Casellato
(S)
Salvatore Striano
(S)
Tullio Messana
(T)
Lucio Giordano
(L)
Edoardo Ferlazzo
(E)
Aglaia Vignoli
(A)
Maurizio Viri
(M)
Irene Bagnasco
(I)
Nerses Bebek
(N)
Gunes Altıokka-Uzun
(G)
Informations de copyright
© 2023 International League Against Epilepsy.
Références
Striano S, Striano P, Nocerino C, Boccella P, Bilo L, Meo R, et al. Eyelid myoclonia with absences: an overlooked epileptic syndrome? Neurophysiol Clin. 2002;32(5):287-96. https://doi.org/10.1016/s0987-7053(02)00343-x
Capovilla G, Striano P, Gambardella A, Beccaria F, Hirsch E, Casellato S, et al. Eyelid fluttering, typical EEG pattern, and impaired intellectual function: a homogeneous epileptic condition among the patients presenting with eyelid myoclonia. Epilepsia. 2009;50(6):1536-41. https://doi.org/10.1111/j.1528-1167.2008.02002.x
Cerulli Irelli E, Cocchi E, Ramantani G, Caraballo RH, Giuliano L, Yilmaz T, et al. Electroclinical features and long-term seizure outcome in patients with eyelid myoclonia with absences. Neurology. 2022;98(18):e1865-76. https://doi.org/10.1212/WNL.0000000000200165
Cerulli Irelli E, Cocchi E, Ramantani G, Riva A, Caraballo RH, Morano A, et al. Spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study. Epilepsia. 2023;64(1):196-207. https://doi.org/10.1111/epi.17450
Shakeshaft A, Panjwani N, Collingwood A, Crudgington H, Hall A, Andrade DM, et al. Sex-specific disease modifiers in juvenile myoclonic epilepsy. Sci Rep. 2022;12(1):2785. https://doi.org/10.1038/s41598-022-06324-2
Stevelink R, Al-Toma D, Jansen FE, Lamberink HJ, Asadi-Pooya AA, Farazdaghi M, et al. Individualised prediction of drug resistance and seizure recurrence after medication withdrawal in people with juvenile myoclonic epilepsy: a systematic review and individual participant data meta-analysis. EClinicalMedicine. 2022;53:101732.
Choi H, Detyniecki K, Bazil C, Thornton S, Crosta P, Tolba H, et al. Development and validation of a predictive model of drug-resistant genetic generalized epilepsy. Neurology. 2020;95(15):e2150-60. https://doi.org/10.1212/WNL.0000000000010597
Cerulli Irelli E, Cocchi E, Morano A, Casciato S, Fanella M, Albini M, et al. Valproate impact and sex-dependent seizure remission in patients with idiopathic generalized epilepsy. J Neurol Sci. 2020;415:116940.
Tomson T, Marson A, Boon P, Canevini MP, Covanis A, Gaily E, et al. Valproate in the treatment of epilepsy in girls and women of childbearing potential. Epilepsia. 2015;56(7):1006-19.
Kwan P, Arzimanoglou A, Berg AT, Brodie MJ, Allen Hauser W, Mathern G, et al. Definition of drug resistant epilepsy: consensus proposal by the ad hoc task force of the ILAE commission on therapeutic strategies. Epilepsia. 2010;51(6):1069-77. [published correction appears in Epilepsia. 2010;51(9):1922].
Vaudano AE, Ruggieri A, Tondelli M, Avanzini P, Benuzzi F, Gessaroli G, et al. The visual system in eyelid myoclonia with absences. Ann Neurol. 2014;76(3):412-27. https://doi.org/10.1002/ana.24236
Siniatchkin M, Groppa S, Jerosch B, Muhle H, Kurth C, Shepherd AJ, et al. Spreading photoparoxysmal EEG response is associated with an abnormal cortical excitability pattern. Brain. 2007;130(Pt 1):78-87. https://doi.org/10.1093/brain/awl306
Gunaydin S, Soysal A, Atay T, Arpaci B. Motor and occipital cortex excitability in migraine patients. Can J Neurol Sci. 2006;33(1):63-7. https://doi.org/10.1017/s0317167100004716
Puri V, Sajan PM, Chowdhury V, Chaudhry N. Cortical excitability in drug naive juvenile myoclonic epilepsy. Seizure. 2013;22(8):662-9.
Stamberger H, Hammer TB, Gardella E, Vlaskamp DRM, Bertelsen B, Mandelstam S, et al. NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns. Genet Med. 2021;23(2):363-73. https://doi.org/10.1038/s41436-020-00988-9
Virta LJ, Kälviäinen R, Villikka K, Keränen T. Declining trend in valproate use in Finland among females of childbearing age in 2012-2016 - a nationwide registry-based outpatient study. Eur J Neurol. 2018;25(6):869-74.
Caraballo RH, Fontana E, Darra F, Chacon S, Ross N, Fiorini E, et al. A study of 63 cases with eyelid myoclonia with or without absences: type of seizure or an epileptic syndrome? Seizure. 2009;18(6):440-5. https://doi.org/10.1016/j.seizure.2009.04.004
Kloc ML, Marchand DH, Holmes GL, Pressman RD, Barry JM. Cognitive impairment following experimental febrile seizures is determined by sex and seizure duration. Epilepsy Behav. 2022;126:108430. https://doi.org/10.1016/j.yebeh.2021.108430