| Title: |
Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences |
| Authors: |
Irelli, Emanuele Cerulli; Cocchi, Enrico; Ramantani, Georgia; Caraballo, Roberto H; Giuliano, Loretta; Yilmaz, Tulay; Morano, Alessandra; Panagiotakaki, Eleni; Operto, Francesca F; Giraldez, Beatriz Gonzalez; Silvennoinen, Katri; Casciato, Sara; Comajuan, Marion; Balestrini, Simona; Fortunato, Francesco; Coppola, Antonietta; Di Gennaro, Giancarlo; Labate, Angelo; Sofia, Vito; Kluger, Gerhard J; Kasteleijn-Nolst Trenité, Dorothée GA; Gambardella, Antonio; Baykan, Betul; Sisodiya, Sanjay M; Arzimanoglou, Alexis; Striano, Pasquale; Di Bonaventura, Carlo; EMA study group |
| Source: |
Neurology , 98 (18) e1865-e1876. (2022) |
| Publisher Information: |
Ovid Technologies (Wolters Kluwer Health) |
| Publication Year: |
2022 |
| Collection: |
University College London: UCL Discovery |
| Subject Terms: |
Anticonvulsants; Child; Preschool; Electroencephalography; Epilepsy; Eyelids; Humans; Myoclonus; Recurrence; Retrospective Studies; Seizures; Febrile; Status Epilepticus; Substance Withdrawal Syndrome |
| Description: |
BACKGROUND AND OBJECTIVES: Eyelid myoclonia with absences (EMA) is a generalized epilepsy syndrome whose prognosis and clinical characteristics are still partially undefined. We investigated electroclinical endophenotypes and long-term seizure outcome in a large cohort of EMA patients. METHODS: In this multicenter retrospective study, EMA patients with ≥5 years of follow-up were included. We investigated prognostic patterns and sustained terminal remission (STR), along with their prognostic factors. Moreover, a two-step cluster analysis was used to investigate the presence of distinct EMA endophenotypes. RESULTS: We included 172 patients, with a median age at onset of 7 years (interquartile range (IQR) 5-10) and a median follow-up duration of 14 years (IQR 8.25-23.75). Sixty-six patients (38.4%) displayed a non-remission pattern, whereas remission and relapse patterns were encountered in 56 (32.6%) and 50 (29.1%) subjects. Early epilepsy onset, history of febrile seizures (FS) and eyelid myoclonia (EM) status epilepticus significantly predicted a non-remission pattern according to multinomial logistic regression analysis. STR was achieved by 68 (39.5%) patients with a mean latency of 14.05 years (SD ± 12.47). Early epilepsy onset, psychiatric comorbidities, and a history of FS and generalized tonic-clonic seizures (GTCS) were associated with a lower probability of achieving STR according to a Cox regression proportional hazards model. Antiseizure medication (ASM) withdrawal was attempted in 62/172 patients, and seizures relapsed in 74.2%. Cluster analysis revealed two distinct clusters with 86 patients each. Cluster 2, which we defined as "EMA-plus", was characterized by an earlier age at epilepsy onset, higher rate of intellectual disability, EM status epilepticus, generalized paroxysmal fast activity, self-induced seizures, FS, and poor ASM response, whereas Cluster 1, the "EMA-only" cluster, was characterized by a higher rate of seizure remission and more favorable neuropsychiatric outcome. DISCUSSION: Early ... |
| Document Type: |
article in journal/newspaper |
| File Description: |
text |
| Language: |
English |
| Relation: |
https://discovery.ucl.ac.uk/id/eprint/10150051/1/Sisodiya_Cerulli%20Irelli%20Manuscript%20revised%20UNMARKED.pdf; https://discovery.ucl.ac.uk/id/eprint/10150051/ |
| Availability: |
https://discovery.ucl.ac.uk/id/eprint/10150051/1/Sisodiya_Cerulli%20Irelli%20Manuscript%20revised%20UNMARKED.pdf; https://discovery.ucl.ac.uk/id/eprint/10150051/ |
| Rights: |
open |
| Accession Number: |
edsbas.57112FAD |
| Database: |
BASE |