Conti Marta, Mercier Mattia, Serino Domenico, Piscitello Ludovica M, Santarone Marta E, Vigevano Federico, Specchio Nicola, Fusco Lucia
Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù, IRCCS Children's Hospital, Full Member of European Reference Network EpiCARE, Rome, Italy.
Paediatric Neurology Department, Royal Aberdeen Children's Hospital, Aberdeen, United Kingdom.
Epilepsy Behav. 2024 Dec;161:110120. doi: 10.1016/j.yebeh.2024.110120. Epub 2024 Nov 1.
We studied the electrographic features of tonic seizures (TS) with bilateral contraction and tonic-clonic seizures (TCS) without focal signs occurring during the first year of life to evaluate if there is a correlation with outcome.
We retrospectively reviewed patients aged 1 to 12 months with at least one TS or TCS recorded with video-EEG between 2011 and 2021 in our Epilepsy Monitoring Unit. We analyzed the following electrographic features: seizure duration, presence and duration of focal ictal EEG onset, and post-ictal generalized EEG suppression (PGES). Among clinical variables, we collected age at epilepsy onset, age at TS and TCS recording, response to anti-seizure medications, genetic and neuroimaging findings, epileptic syndrome classification.
Overall, we recorded 2577 seizures in 1769 patients. One-hundred-twenty-eight seizures (5%) were clinically labeled either as TS or TCS in 41 patients (2%). Out of 41 patients, 17 (41%) presented with TS, and 24 (59%) with TCS. Thirteen patients (32%) had a Self-limited Epilepsy, and 28 (68%) a Developmental and Epileptic Encephalopathy (DEE). Seventy-two percent of genetically tested patients had pathogenic gene variants. None had structural epilepsy. Mean age at epilepsy onset was 4.48 months (range 3 days-12 months). Age at seizure onset was earlier in patients presenting with TS versus patients presenting with TCS (2.31 months vs. 6.01 months; p = 0.001) and in DEEs versus Self-limited Epilepsies (3.23 months vs. 7.16 months; p = 0.001). TS were exclusively present in DEEs (p = 0.001), and TCS were recorded in both DEEs and Self-limited Epilepsies. Focal ictal EEG onset was evident in 92 % of TCS, and in none of TS. Generalized ictal EEG onset was documented in 100 % of TS, and in 8 % of TCS. Focal ictal EEG onset occurred more frequently (100 % vs. 32 %; p = 0.000) and was significantly longer (30.61 s vs. 16.22 s; p = 0.020) in Self-limited Epilepsies versus DEEs. PGES was observed in 18 out of 41 (44 %) and was more frequent in Self-limited Epilepsies (p = 0.026).
This study provides insights into the electroclinical features of TS and TCS in infants that may help distinguish Self-limited Epilepsies from DEEs soon after epilepsy onset.
我们研究了出生后第一年出现的伴有双侧收缩的强直发作（TS）和无局灶性体征的强直阵挛发作（TCS）的脑电图特征，以评估其与预后是否相关。
我们回顾性分析了2011年至2021年在我们癫痫监测病房接受视频脑电图检查的1至12个月大的患者，这些患者至少记录到一次TS或TCS。我们分析了以下脑电图特征：发作持续时间、局灶性发作期脑电图起始的存在及持续时间，以及发作后广泛性脑电图抑制（PGES）。在临床变量方面，我们收集了癫痫发作起始年龄、TS和TCS记录时的年龄、对抗癫痫药物的反应、基因和神经影像学检查结果、癫痫综合征分类。
总体而言，我们在1769例患者中记录到2577次发作。128次发作（5%）在41例患者（2%）中被临床诊断为TS或TCS。在41例患者中，17例（41%）表现为TS，24例（59%）表现为TCS。13例患者（32%）患有自限性癫痫，28例（68%）患有发育性癫痫性脑病（DEE）。72%接受基因检测的患者有致病基因变异。无一例有结构性癫痫。癫痫发作起始的平均年龄为4.48个月（范围3天至12个月）。与TCS患者相比，TS患者的发作起始年龄更早（2.31个月对6.01个月；p = 0.001），DEE患者比自限性癫痫患者更早（3.23个月对7.16个月；p = 0.001）。TS仅出现在DEE患者中（p = 0.001），而TCS在DEE患者和自限性癫痫患者中均有记录。92%的TCS有明显的局灶性发作期脑电图起始，而TS均无。100%的TS记录到广泛性发作期脑电图起始，8%的TCS有此表现。自限性癫痫患者中局灶性发作期脑电图起始更频繁（100%对32%；p = 0.000）且明显更长（30.61秒对16.22秒；p = 0.020）。41例中有18例（44%）观察到PGES，且在自限性癫痫患者中更常见（p = 0.026）。
本研究为婴儿TS和TCS的电临床特征提供了见解，这可能有助于在癫痫发作后不久将自限性癫痫与DEE区分开来。
