TY - JOUR
T1 - Spectrum of epilepsy with eyelid myoclonia
T2 - Delineation of disease subtypes from a large multicenter study
AU - Cerulli Irelli, Emanuele
AU - Cocchi, Enrico
AU - Ramantani, Georgia
AU - Riva, Antonella
AU - Caraballo, Roberto Horacio
AU - Morano, Alessandra
AU - Giuliano, Loretta
AU - Yilmaz, Tülay
AU - Panagiotakaki, Eleni
AU - Operto, Francesca F.
AU - Giraldez, Beatriz Gonzalez
AU - Balestrini, Simona
AU - Silvennoinen, Katri
AU - Casciato, Sara
AU - Comajuan, Marion
AU - Fortunato, Francesco
AU - Giallonardo, Anna Teresa
AU - Gamirova, Rimma
AU - Coppola, Antonietta
AU - Di Gennaro, Giancarlo
AU - Labate, Angelo
AU - Sofia, Vito
AU - Kluger, Gerhard Josef
AU - Gambardella, Antonio
AU - Kasteleijn-NolstTrenite, Dorothee G.A.
AU - Baykan, Betul
AU - Sisodiya, Sanjay M.
AU - Arzimanoglou, Alexis
AU - Striano, Pasquale
AU - Di Bonaventura, Carlo
N1 - Publisher Copyright:
© 2022 International League Against Epilepsy.
PY - 2023/1
Y1 - 2023/1
N2 - 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 nine countries. Data on 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 involving 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 (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 toward a more accurate classification and prognostic profiling of EEM patients.
AB - 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 nine countries. Data on 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 involving 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 (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 toward a more accurate classification and prognostic profiling of EEM patients.
KW - classification
KW - eyelid myoclonia with absences
KW - idiopathic generalized epilepsy
KW - Jeavons syndrome
KW - juvenile myoclonic epilepsy
UR - http://www.scopus.com/inward/record.url?scp=85142092302&partnerID=8YFLogxK
U2 - 10.1111/epi.17450
DO - 10.1111/epi.17450
M3 - Article
C2 - 36307934
AN - SCOPUS:85142092302
SN - 0013-9580
VL - 64
SP - 196
EP - 207
JO - Epilepsia
JF - Epilepsia
IS - 1
ER -