SYNGAP1-DEE: A visual sensitive epilepsy
SYNGAP1-DEE: A visual sensitive epilepsy
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DOI：
10.1016/j.clinph.2021.01.014
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发表时间：
2021-02-24
影响因子：
4.7
通讯作者：
Nabbout, Rima
中科院分区：
文献类型：
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作者：
Lo Barco, Tommaso;Kaminska, Anna;Nabbout, Rima
目的：进一步了解SYNGAP1致病性变异个体的电临床特征。方法：在五个欧洲癫痫参考中心招募具有致病性SYNGAP1变异和可用视频脑电图（EEG）记录的参与者。我们获得了分子和临床数据，分析了脑电图记录和存档的癫痫发作视频脑电图，并详细分析了每位患者的间歇期和间歇期脑电图模式特征。结果：我们招募了15例以前未报道的患者，分析了72例脑电图。两种不同的脑电图模式出现了，都是由闭眼触发的。模式1（14/15人）由有节奏的后/扩散型δ波组成，在闭眼时出现，并持续到睁眼（强烈提示闭眼敏感性）。模式2（9/15人）由闭眼触发的弥漫性多尖波放电（闭眼敏感性）组成。这两种模式都出现在2015年8月。包括9/15例患者癫痫发作的存档视频-脑电图片段，我们分析了254次癫痫发作。224例癫痫发作发生在清醒时，161例（72%）发生在闭眼时或闭眼后。在119/161中，模式1先于非典型缺席、肌阵挛性发作或肌阵挛性缺席；在42/161中，模式2与眼睑肌阵挛、缺席和肌阵挛或张力性发作有关。结论：在SYNGAP1队列中，不固定和闭眼是癫痫发作的主要触发因素。意义：结合临床和脑电图特征有助于指导遗传诊断。？ 2021年国际临床神经生理学联合会。Elsevier B.V.版权所有。
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.