Sex‐based electroclinical differences and prognostic factors in epilepsy with eyelid myoclonia

Author:

Cerulli Irelli Emanuele1ORCID,Cocchi Enrico23,Ramantani Georgia4ORCID,Morano Alessandra1,Riva Antonella5ORCID,Caraballo Roberto H.6ORCID,Giuliano Loretta7ORCID,Yilmaz Tülay8,Panagiotakaki Eleni9,Operto Francesca F.10ORCID,Giraldez Beatriz Gonzalez11ORCID,Balestrini Simona121314ORCID,Silvennoinen Katri1213ORCID,Casciato Sara15,Comajuan Marion9,Fortunato Francesco16ORCID,Giallonardo Anna T.1,Gamirova Rimma17,Coppola Antonietta18ORCID,Di Gennaro Giancarlo15,Labate Angelo19,Sofia Vito7,Kluger Gerhard J.2021,Gambardella Antonio16ORCID,Kasteleijn‐Nolst Trenite Dorothee2223ORCID,Baykan Betul8,Sisodiya Sanjay M.1213ORCID,Arzimanoglou Alexis9ORCID,Striano Pasquale524ORCID,Di Bonaventura Carlo1ORCID,

Affiliation:

1. Department of Human Neurosciences Sapienza, University of Rome Rome Italy

2. Department of Precision Medicine and Genomics Columbia University New York New York USA

3. Department of Medicine Columbia University New York New York USA

4. Department of Neuropediatrics University Children's Hospital Zurich Zurich Switzerland

5. Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health University of Genoa Genoa Italy

6. Department of Neurology Hospital de Pediatría "Prof. Dr. Juan P. Garrahan" Buenos Aires Argentina

7. Section of Neurosciences, Department of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia" University of Catania Catania Italy

8. Departments of Neurology and Clinical Neurophysiology Istanbul University, Istanbul Faculty of Medicine Istanbul Turkey

9. Department of Pediatric Clinical Epileptology, Sleep Disorders, and Functional Neurology University Hospitals of Lyon, Member of the European Reference Network EpiCARE Lyon France

10. Child and Adolescent Neuropsychiatry Unit, Department of Medicine, Surgery, and Dentistry University of Salerno Salerno Italy

11. Epilepsy Unit, Neurology Service Hospital Universitario and Instituto de Investigación Sanitaria‐Fundación Jiménez Díaz, Autónoma de Madrid University (IIS‐FJD, UAM) and Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER) Madrid Spain

12. Department of Clinical and Experimental Epilepsy University College London Queen Square Institute of Neurology London UK

13. Chalfont Centre for Epilepsy Bucks UK

14. Neuroscience Department Meyer Children's Hospital IRCSS–University of Florence, member of the European Reference Network EpiCARE Florence Italy

15. IRCCS Neuromed Isernia Italy

16. Institute of Neurology University Magna Graecia Catanzaro Italy

17. Kazan Federal University Kazan Russia

18. Department of Neuroscience and Reproductive and Odontostomatological Sciences Federico II University Naples Italy

19. Department of Biomedical, Dental Sciences and Morphological and Functional Images University of Messina Messina Italy

20. Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents Schoen Clinic Vogtareuth Vogtareuth Germany

21. Paracelsus Medical University (PMU) Salzburg Salzburg Austria

22. Department of Neurosurgery and Epilepsy University Medical Center, Member of the European Reference Network EpiCARE, Utrecht University Utrecht the Netherlands

23. Nesmos Department, Faculty of Medicine and Psychology Sapienza University Rome Italy

24. IRCCS Istituto “Giannina Gaslini," Member of the European Reference Network EpiCARE Genoa Italy

Abstract

AbstractAlthough 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.

Publisher

Wiley

Subject

Neurology (clinical),Neurology

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