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SYNGAP1-DEE: A visual sensitive epilepsy
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DOI：10.1016/j.clinph.2021.01.014.png)
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Abstract
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Objective: To further delineate the electroclinical features of individuals with SYNGAP1 pathogenic vari-ants. Methods: Participants with pathogenic SYNGAP1 variants and available video-electroencephalogram (EEG) recordings were recruited within five European epilepsy reference centers. We obtained molecular and clinical data, analyzed EEG recordings and archived video-EEGs of seizures and detailed characteris-tics of interictal and ictal EEG patterns for every patient. Results: We recruited 15 previously unreported patients and analyzed 72 EEGs. Two distinct EEG patterns emerged, both triggered by eye closure. Pattern 1 (14/15 individuals) consisted of rhythmic posterior/dif-fuse delta waves appearing with eye-closure and persisting until eye opening (strongly suggestive of fixation-off sensitivity). Pattern 2 (9/15 individuals) consisted of diffuse polyspike-and-wave discharges triggered by eye closure (eye-closure sensitivity). Both patterns presented in 8/15. Including archived video-EEG clips of seizures from 9/15 patients, we analyzed 254 seizures. Of 224 seizures experienced while awake, 161 (72%) occurred at or following eye closure. In 119/161, pattern 1 preceded an atypical absence, myoclonic seizure or myoclonic absence; in 42/161, pattern 2 was associated with eyelid myoclonia, absences and myoclonic or atonic seizures. Conclusions: Fixation-off and eye closure were the main triggers for seizures in this SYNGAP1 cohort. Significance: Combining these clinical and electroencephalographic features could help guide genetic diagnosis. ? 2021 International Federation of Clinical Neurophysiology. Published by Elsevier B.V. All rights reserved.
Keywords:
SYNGAP1
Reflex epilepsy
Fixation-off sensitivity
Eye-closure sensitivity
Photosensitivity
Myoclonic seizures
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