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

Emanuele Cerulli Irelli¹, Enrico Cocchi^{2

3}, Georgia Ramantani⁴, Alessandra Morano¹, Antonella Riva⁵, Roberto H Caraballo⁶, Loretta Giuliano⁷, Tülay Yilmaz⁸, Eleni Panagiotakaki⁹, Francesca F Operto¹⁰, Beatriz Gonzalez Giraldez¹¹, Simona Balestrini^{12

13

14}, Katri Silvennoinen^{12

13}, Sara Casciato¹⁵, Marion Comajuan⁹, Francesco Fortunato¹⁶, Anna T Giallonardo¹, Rimma Gamirova¹⁷, Antonietta Coppola¹⁸, Giancarlo Di Gennaro¹⁵, Angelo Labate¹⁹, Vito Sofia⁷, Gerhard J Kluger^{20

21}, Antonio Gambardella¹⁶, Dorothee Kasteleijn-Nolst Trenite^{22

23}, Betul Baykan⁸, Sanjay M Sisodiya^{12

13}, Alexis Arzimanoglou⁹, Pasquale Striano^{5

24}, Carlo Di Bonaventura¹; EEM Study Group

Collaborators, Affiliations

Collaborators

EEM Study Group:
Giacomo Fisco, Stefano Meletti, Natalia Liukshina, Tatiana Tomenko, Giuseppe Gobbi, Daniela Buti, Susanna Casellato, Salvatore Striano, Tullio Messana, Lucio Giordano, Edoardo Ferlazzo, Aglaia Vignoli, Maurizio Viri, Irene Bagnasco, Nerses Bebek, Gunes Altıokka-Uzun

Affiliations

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.

PMID: 37021337
DOI: 10.1111/epi.17609

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

Emanuele Cerulli Irelli et al. Epilepsia. 2023 Jun.

. 2023 Jun;64(6):e105-e111.

doi: 10.1111/epi.17609. Epub 2023 Apr 18.

Authors

Collaborators

EEM Study Group:
Giacomo Fisco, Stefano Meletti, Natalia Liukshina, Tatiana Tomenko, Giuseppe Gobbi, Daniela Buti, Susanna Casellato, Salvatore Striano, Tullio Messana, Lucio Giordano, Edoardo Ferlazzo, Aglaia Vignoli, Maurizio Viri, Irene Bagnasco, Nerses Bebek, Gunes Altıokka-Uzun

Affiliations

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.

PMID: 37021337
DOI: 10.1111/epi.17609

Abstract

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.

Keywords: Jeavons syndrome; catamenial seizures; drug resistance; genetic generalized epilepsy (GGE); photosensitivity.

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References

REFERENCES

1. 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
1. 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
1. 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
1. 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
1. 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

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

Collaborators

Affiliations

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

Authors

Collaborators

Affiliations

Abstract

References

REFERENCES

MeSH terms

LinkOut - more resources

Full Text Sources

Medical

Miscellaneous