Skip to Main content Skip to Navigation
New interface
Journal articles

SYNGAP1-DEE: A visual sensitive epilepsy

Abstract : Objective: To further delineate the electroclinical features of individuals with SYNGAP1 pathogenic variants. 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 characteristics 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/diffuse 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.
Document type :
Journal articles
Complete list of metadata
Contributor : Equipe HAL Université Paris Cité Connect in order to contact the contributor
Submitted on : Wednesday, June 9, 2021 - 3:32:50 PM
Last modification on : Friday, October 28, 2022 - 4:24:05 PM




Tommaso Lo Barco, Anna Kaminska, Roberta Solazzi, Claude Cancés, Giulia Barcia, et al.. SYNGAP1-DEE: A visual sensitive epilepsy. Clinical Neurophysiology, 2021, 132 (4), pp.841-850. ⟨10.1016/j.clinph.2021.01.014⟩. ⟨hal-03255478⟩



Record views