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Epilepsy with eyelid myoclonia beyond the classical phenotype: Longitudinal electroclinical observations in a
Hande Aygün1, Alper Taşkın1, Özlem Yayıcı Köken1
1Division of Pediatric Neurology, Department of Pediatrics, Akdeniz University Faculty of Medicine, Antalya, Turkey.
Insights
Childhood epilepsy with eyelid myoclonia often presents with incomplete features, requiring repeated assessments for accurate diagnosis. This epilepsy syndrome shows varied clinical and EEG expression, with some patients responding well to lamotrigine.
Area of Science:
- Neurology
- Pediatric Epilepsy Syndromes
Background:
- Epilepsy with eyelid myoclonia is a childhood-onset generalized epilepsy syndrome.
- Recognition of eyelid myoclonia, eye-closure sensitivity, and photosensitivity can be variable.
- Delayed diagnosis and understanding of its electroclinical evolution are significant challenges.
Purpose of the Study:
- To characterize the longitudinal clinical and electroencephalographic (EEG) features of pediatric epilepsy with eyelid myoclonia.
- To investigate delayed recognition, EEG variability, electroclinical evolution, and treatment outcomes.
Main Methods:
- Retrospective review of 27 children with epilepsy with eyelid myoclonia.
- Analysis of clinical characteristics, seizure evolution, serial EEG findings, neuroimaging, and antiseizure medication responses.
- Descriptive summarization of longitudinal electroclinical trajectories.
Main Results:
- Eyelid myoclonia was recognized at presentation in 14 patients and during follow-up in 13.
- The complete classical electroclinical phenotype was present at onset in only 4 patients.
- Persistent epileptiform abnormalities were noted in seizure-free patients, indicating heterogeneity.
Conclusions:
- Classical features of epilepsy with eyelid myoclonia may be incomplete at onset and eyelid myoclonia can be initially missed.
- Repeated clinical and EEG assessments are crucial for diagnosis, even without photosensitivity.
- While lamotrigine showed favorable outcomes, the retrospective design limits comparative efficacy conclusions.
Objective:
Epilepsy with eyelid myoclonia is a childhood-onset generalized epilepsy syndrome with variable recognition of eyelid myoclonia, eye-closure sensitivity, and photosensitivity during follow-up. We aimed to characterize longitudinal clinical and electroencephalographic features in pediatric epilepsy with eyelid myoclonia, focusing on delayed recognition, reflex electroencephalographic variability, electroclinical evolution, and treatment outcomes.
Methods:
We retrospectively reviewed 27 children with epilepsy with eyelid myoclonia followed between April 2020 and March 2026. Clinical characteristics, seizure evolution, serial electroencephalographic findings, neuroimaging data, and antiseizure medication responses were analyzed. Longitudinal electroclinical trajectories were summarized descriptively and not considered predefined or validated disease subtypes.
Results:
Among 27 patients, eyelid myoclonia was recognized at presentation in 14 and during follow-up in 13. Of 10 patients initially presenting with isolated eyelid myoclonia, additional seizure types emerged in six, whereas four retained an isolated phenotype throughout follow-up. The complete classical electroclinical phenotype was present at onset in only four patients. A photoparoxysmal response was documented in five patients, and focal epileptiform discharges in four patients. Epileptiform abnormalities persisted in 10 of 21 seizure-free patients. These findings demonstrate substantial heterogeneity in clinical evolution and electroencephalographic expression. Favorable seizure outcomes were observed in many lamotrigine-treated patients.
Significance:
In childhood epilepsy with eyelid myoclonia, classical electroclinical features may be incomplete at onset, and eyelid myoclonia may initially be missed. Repeated clinical and electroencephalographic assessment is important when epilepsy with eyelid myoclonia is suspected, and absence of photosensitivity or classical reflex electroencephalographic features should not exclude the diagnosis when the clinical phenotype is suggestive. Persistent epileptiform abnormalities despite clinical seizure freedom should be interpreted within the broader clinical context. Although favorable outcomes were observed in many patients, the retrospective design precludes conclusions regarding comparative treatment efficacy.
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