Irelli, Emanuele Cerulli; Cocchi, Enrico; Ramantani, Georgia; Caraballo, Roberto H; Giuliano, Loretta; Yilmaz, Tulay; Morano, Alessandra; ... EMA study group; + view all 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; - view fewer (2022) Electroclinical Features and Long-term Seizure Outcome in Patients With Eyelid Myoclonia With Absences. Neurology , 98 (18) e1865-e1876. 10.1212/WNL.0000000000200165.

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Abstract

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 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 impact of age-related brain changes in EMA remission. Finally, our cluster analysis showed a clear-cut distinction of EMA patients into an EMA-plus insidious subphenotype and an EMA-only benign cluster that strongly differed in terms of remission rates and cognitive outcomes.

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