Abstract Details

Title Epilepsy with Eyelid Myoclonia: Should Focal Seizures Exclude the Diagnosis?

Topic Epilepsy/Clinical Neurophysiology (EEG)

Presentation(s) P11 - Poster Session 11 (8:00 AM-9:00 AM)

Poster/Presentation
Number 9-012

Objective The goal of this case series is to identify characteristics of a subset of patients who otherwise met the diagnostic criteria for epilepsy with eyelid myoclonia (EEM) but also exhibited focal seizures.

Background EEM is a genetic generalized epilepsy syndrome of childhood requiring the diagnostic triad of eyelid myoclonia, eye-closure induced EEG paroxysms and photosensitivity. According to the 2022 International League Against Epilepsy syndrome classifications, the presence of focal seizures excludes formal diagnosis of EEM.

Design/Methods Electronic medical records were searched with the terms “eyelid myoclonia” and “Jeavons syndrome.” Charts of identified patients were reviewed to determine those who met the diagnostic criteria for EEM. The charts and EEGs of those who otherwise met the criteria for EEM but also had focal seizures recorded on EEG are described.

Results Of 243 patients identified, 134 met diagnostic criteria for EEM, 104 did not meet criteria, and five met all criteria for EEM, with the exception that they also had focal seizures. All five patients were female with normal to borderline normal neurodevelopment. Genetic testing was performed in three with no pathogenic variants identified. All patients underwent prolonged video EEG at our institution. Localization of focal-onset seizures included temporal in three and occipital in two. Brain MRI revealed no epileptogenic lesions in four patients. One patient had a right temporal tumor (multinodular, vacuolating neuronal tumor). Following resection, with the exception of one focal to bilateral tonic-clonic seizure in the setting of failed medication withdrawal, this patient was seizure free. The remaining patients continued to have seizures.

Conclusions Focal seizures rarely occur in patients who would otherwise meet diagnostic criteria for EEM and should prompt additional imaging evaluation. Although most had no structural cause of focal epilepsy, the outcome in one patient following tumor resection warrants further investigation into this rare patient subset.

Authors/Disclosures
Lorraine Siebold, MD, PhD PRESENTER	Dr. Siebold has nothing to disclose.
Isha Snehal, MBBS	Dr. Snehal has nothing to disclose.
Jeffrey W. Britton, MD, FAAN (Mayo Graduate School of Medicine)	Dr. Britton has received personal compensation in the range of $0-$499 for serving as a Online course with American Clinical Neurophysiology Society.
Lily Wong-Kisiel, MD, FAAN (Mayo Clinic)	Dr. Wong-Kisiel has nothing to disclose.
Elaine C. Wirrell, MD, FAAN (Mayo Clinic/Dept of Child Neurology)	Dr. Wirrell has received personal compensation in the range of $5,000-$9,999 for serving as a Consultant for Biocodex. Dr. Wirrell has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Encoded. Dr. Wirrell has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for Neurocrine. Dr. Wirrell has received personal compensation in the range of $500-$4,999 for serving on a Scientific Advisory or Data Safety Monitoring board for GRIN. Dr. Wirrell has received publishing royalties from a publication relating to health care.
Kelsey M. Smith, MD (Mayo Clinic)	The institution of Dr. Smith has received research support from CURE Epilepsy. The institution of Dr. Smith has received research support from UCB Pharmaceuticals.

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