The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study

Emanuele Cerulli Irelli¹, Enrico Cocchi², Georgia Ramantani³, Antonella Riva⁴, Roberto H Caraballo⁵, Alessandra Morano¹, Loretta Giuliano⁶, Tülay Yilmaz⁷, Eleni Panagiotakaki⁸, Francesca F Operto⁹, Beatriz Gonzalez Giraldez¹⁰, Simona Balestrini¹¹, Katri Silvennoinen¹², Sara Casciato¹³, Marion Comajuan⁸, Francesco Fortunato¹⁴, Anna T Giallonardo¹, Rimma Gamirova¹⁵, Antonietta Coppola¹⁶, Giancarlo Di Gennaro¹³, Angelo Labate¹⁷, Vito Sofia⁶, Gerhard J Kluger¹⁸, Antonio Gambardella¹⁴, Dorothee Kasteleijn-Nolst Trenite¹⁹, Betul Baykan⁷, Sanjay M Sisodiya¹², Alexis Arzimanoglou⁸, Pasquale Striano²⁰, Carlo Di Bonaventura¹; EMA study group

Collaborators, Affiliations

Collaborators

EMA 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, Department of Medicine, Columbia University, New York.
³ Department of Neuropediatrics, University Children's Hospital Zurich, Zurich, Switzerland.
⁴ Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
⁵ Department of Neurology, Hospital de Pediatría "Prof. Dr. Juan P Garrahan", Buenos Aires, Argentina.
⁶ Department of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia", Section of Neurosciences, University of Catania, Catania, Italy.
⁷ Departments of Neurology and Clinical Neurophysiology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
⁸ Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the ERN EpiCARE, Lyon, France.
⁹ Child and Adolescent Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, Salerno, Italy.
¹⁰ Epilepsy Unit, Neurology Service, Hospital Universitario and IIS Fundación Jiménez Díaz and CIBERER, Madrid, Spain.
¹¹ Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK and Chalfont Centre for Epilepsy, Bucks, UK; Neuroscience Department, Meyer Children's Hospital-University of Florence, Member of the ERN EpiCARE, Florence, Italy.
¹² Department of Clinical and Experimental Epilepsy, Partner of the ERN EpiCARE, UCL Queen Square Institute of Neurology, London, UK and Chalfont Centre for Epilepsy, Bucks, UK.
¹³ IRCCS NEUROMED, Pozzilli, Isernia, Italy.
¹⁴ Institute of Neurology, University Magna Graecia, Catanzaro, Italy.
¹⁵ Kazan Federal University, Russia.
¹⁶ Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
¹⁷ Neurophysiopatology and Movement Disorders Clinic, University of Messina, Italy.
¹⁸ Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Vogtareuth, Germany; PMU, Salzburg, Salzburg, Austria.
¹⁹ Department of Neurosurgery and Epilepsy, University Medical Center, Member of the ERN EpiCARE, Utrecht University, Utrecht, The Netherlands; Nesmos Department, Faculty of Medicine and Psychology, Sapienza University, Rome, Italy.
²⁰ Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Member of the ERN EpiCARE, Genoa, Italy; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.

PMID: 36307934
DOI: 10.1111/epi.17450

The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study

Emanuele Cerulli Irelli et al. Epilepsia. 2022.

. 2022 Oct 28.

doi: 10.1111/epi.17450. Online ahead of print.

Authors

Collaborators

EMA 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, Department of Medicine, Columbia University, New York.
³ Department of Neuropediatrics, University Children's Hospital Zurich, Zurich, Switzerland.
⁴ Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.
⁵ Department of Neurology, Hospital de Pediatría "Prof. Dr. Juan P Garrahan", Buenos Aires, Argentina.
⁶ Department of Medical and Surgical Sciences and Advanced Technologies "G.F. Ingrassia", Section of Neurosciences, University of Catania, Catania, Italy.
⁷ Departments of Neurology and Clinical Neurophysiology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey.
⁸ Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the ERN EpiCARE, Lyon, France.
⁹ Child and Adolescent Neuropsychiatry Unit, Department of Medicine, Surgery and Dentistry, University of Salerno, Salerno, Italy.
¹⁰ Epilepsy Unit, Neurology Service, Hospital Universitario and IIS Fundación Jiménez Díaz and CIBERER, Madrid, Spain.
¹¹ Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK and Chalfont Centre for Epilepsy, Bucks, UK; Neuroscience Department, Meyer Children's Hospital-University of Florence, Member of the ERN EpiCARE, Florence, Italy.
¹² Department of Clinical and Experimental Epilepsy, Partner of the ERN EpiCARE, UCL Queen Square Institute of Neurology, London, UK and Chalfont Centre for Epilepsy, Bucks, UK.
¹³ IRCCS NEUROMED, Pozzilli, Isernia, Italy.
¹⁴ Institute of Neurology, University Magna Graecia, Catanzaro, Italy.
¹⁵ Kazan Federal University, Russia.
¹⁶ Department of Neuroscience, Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
¹⁷ Neurophysiopatology and Movement Disorders Clinic, University of Messina, Italy.
¹⁸ Clinic for Neuropediatrics and Neurorehabilitation, Epilepsy Center for Children and Adolescents, Schoen Clinic Vogtareuth, Vogtareuth, Germany; PMU, Salzburg, Salzburg, Austria.
¹⁹ Department of Neurosurgery and Epilepsy, University Medical Center, Member of the ERN EpiCARE, Utrecht University, Utrecht, The Netherlands; Nesmos Department, Faculty of Medicine and Psychology, Sapienza University, Rome, Italy.
²⁰ Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto "Giannina Gaslini", Member of the ERN EpiCARE, Genoa, Italy; Department of Neurosciences Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, Genoa, Italy.

PMID: 36307934
DOI: 10.1111/epi.17450

Abstract

Objective: Epilepsy with eyelid myoclonia (EEM) has been associated with marked clinical heterogeneity. Early epilepsy onset has been recently linked to lower chances of achieving sustained remission and to a less favorable neuropsychiatric outcome. However, much work is still needed to better delineate this epilepsy syndrome.

Methods: In this multicenter retrospective cohort study, we included 267 EEM patients from 9 countries. Data about electroclinical and demographic features, intellectual functioning, migraine with or without aura, family history of epilepsy and epilepsy syndromes in relatives were collected in each patient. The impact of age at epilepsy onset (AEO) on EEM clinical features was investigated, along with the distinctive clinical characteristics of patients showing sporadic myoclonia over body regions other than eyelids (body-MYO).

Results: Kernel density estimation revealed a trimodal distribution of AEO and Fisher-Jenks optimization disclosed three EEM subgroups: early-onset (EO-EEM), intermediate-onset (IO-EEM) and late-onset subgroup (LO-EEM). EO-EEM was associated with the highest rate of intellectual disability, antiseizure medication refractoriness and psychiatric comorbidities and with the lowest rate of family history of epilepsy. LO-EEM was associated with the highest proportion of body-MYO and generalized tonic-clonic seizures (GTCS), whereas IO-EEM had the lowest observed rate of additional findings. A family history of EEM was significantly more frequent in IO-EEM and LO-EEM compared with EO-EEM. In the subset of patients with body-MYO (58/267), we observed a significantly higher rate of migraine and GTCS but no relevant differences in other electroclinical features and seizure outcome.

Significance: Based on AEO, we identified consistent EEM subtypes characterized by distinct electroclinical and familial features. Our observations shed new light on the spectrum of clinical features of this generalized epilepsy syndrome and may help clinicians towards a more accurate classification and prognostic profiling of EEM patients.

Keywords: Jeavons Syndrome; classification; eyelid myoclonia with absences (EMA); idiopathic generalized epilepsy (IGE); juvenile myoclonic epilepsy (JME).

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The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study

Collaborators

Affiliations

The spectrum of epilepsy with eyelid myoclonia: delineation of disease subtypes from a large multicenter study

Authors

Collaborators

Affiliations

Abstract

LinkOut - more resources

Full Text Sources

Research Materials

Miscellaneous