Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences

• Published in: Neurology Vol. 98; no. 18; p. e1865
• Main Authors: Cerulli Irelli, Emanuele, Cocchi, Enrico, Ramantani, Georgia, Caraballo, Roberto H, Giuliano, Loretta, Yilmaz, Tulay, Morano, Alessandra, Panagiotakaki, Eleni, Operto, Francesca F, Gonzalez Giraldez, Beatriz, 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 G A, Gambardella, Antonio, Baykan, Betul, Sisodiya, Sanjay M, Arzimanoglou, Alexis, Striano, Pasquale, Di Bonaventura, Carlo
• Format: Journal Article
• Language: English
• Published: United States 03.05.2022
• Subjects: Anticonvulsants - therapeutic use; Child; Child, Preschool; Electroencephalography; Epilepsy - drug therapy; Eyelids; Humans; Myoclonus - complications; Recurrence; Retrospective Studies; Seizures - complications; Seizures - drug therapy; Seizures, Febrile; Status Epilepticus - drug therapy; Substance Withdrawal Syndrome
• ISSN: 1526-632X
• DOI: 10.1212/WNL.0000000000200165

Eyelid myoclonia (EM) with absences (EMA) is a generalized epilepsy syndrome with a prognosis and clinical characteristics that are still partially undefined. We investigated electroclinical endophenotypes and long-term seizure outcome in a large cohort of patients with EMA. In this multicenter retrospective study, patients with EMA with ≥5 years of follow-up were included. We investigated prognostic patterns and sustained terminal remission (STR), along with their prognostic factors. Moreover, a 2-step cluster analysis was used to investigate the presence of distinct EMA endophenotypes. We included 172 patients with a median age at onset of 7 years (interquartile range [IQR] 5-10 years) and a median follow-up duration of 14 years (IQR 8.25-23.75 years). Sixty-six patients (38.4%) displayed a nonremission pattern, whereas remission and relapse patterns were encountered in 56 (32.6%) and 50 (29.1%) participants. Early epilepsy onset, history of febrile seizures (FS), and EM status epilepticus significantly predicted a nonremission 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 years). Early epilepsy onset, psychiatric comorbid conditions, and a history of FS and generalized tonic-clonic seizures 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 of 172 patients, and seizures recurred in 74.2%. Cluster analysis revealed 2 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. Early epilepsy onset was the most relevant prognostic factor for poor treatment response. A long latency between epilepsy onset and ASM response was observed, suggesting the effect of age-related brain changes in EMA remission. Last, our cluster analysis showed a clear-cut distinction of patients with EMA into an EMA-plus insidious subphenotype and an EMA-only benign cluster that strongly differed in terms of remission rates and cognitive outcomes.