Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures
Neonatal presentation of genetic epilepsies: Early differentiation from acute provoked seizures
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DOI：
10.1111/epi.16957
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发表时间：
2021-06-21
期刊：
影响因子：
5.6
通讯作者：
Cilio, Maria Roberta
中科院分区：
文献类型：
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作者：
Cornet, Marie-Coralie;Morabito, Valeria;Cilio, Maria Roberta
目的新生儿癫痫发作多为急性脑损伤所致，但也有部分是新生儿遗传性癫痫的首发症状。延迟识别和缺乏专家评估的新生儿癫痫可能会导致更糟糕的发展结果。与年龄较大的儿童和成人一样，新生儿的癫痫症状学是诊断的一个重要决定因素。我们的目的是确定新生儿癫痫发作类型是否提示遗传病因。方法回顾性分析两个IV级新生儿重症监护病房收治的癫痫患儿的临床和脑电图（EEG）特征，诊断为遗传性癫痫，就诊时有视频EEG记录可供回顾，并与脑卒中或缺氧缺血性脑病所致癫痫患儿按1：2的比例进行比较。结果20例遗传性癫痫患儿与40例急性激发性癫痫患儿进行比较。遗传性癫痫与KCNQ 2（n = 12）、KCNQ 3（n = 2）、SCN 2A（n = 2）、KCNT 1（n = 1）、PRRT 2（n = 1）和BRAT 1（n = 2）的致病性变异相关。所有遗传性癫痫新生儿的癫痫发作与强直性（18/20）或肌阵挛性（2/20）临床相关。与此相反，40例（42%）急性激发癫痫发作的新生儿中有17例仅出现电描记癫痫发作，其余大部分为阵挛性癫痫发作。遗传性癫痫新生儿至首次癫痫发作的时间（中位数= 60小时）长于急性激发癫痫新生儿（中位数= 15小时，p <0.001）。钠通道阻断抗癫痫药物在14例强直性癫痫发作的新生儿中有13例（92%）有效，这些新生儿在癫痫发作时或癫痫过程中接受了试验。癫痫发作的症状是新生儿遗传性癫痫的一个容易获得的迹象。早期识别癫痫发作类型可以促进适当的检查和治疗。强直性癫痫发作与通道病有关，通常由钠通道阻断抗癫痫药物控制。
Objective Although most seizures in neonates are due to acute brain injury, some represent the first sign of neonatal onset genetic epilepsies. Delay in recognition and lack of expert assessment of neonates with epilepsy may result in worse developmental outcomes. As in older children and adults, seizure semiology in neonates is an essential determinant in diagnosis. We aimed to establish whether seizure type at presentation in neonates can suggest a genetic etiology. Methods We retrospectively analyzed the clinical and electroencephalographic (EEG) characteristics of seizures in neonates admitted in two Level IV neonatal intensive care units, diagnosed with genetic epilepsy, for whom a video-EEG recording at presentation was available for review, and compared them on a 1:2 ratio with neonates with seizures due to stroke or hypoxic-ischemic encephalopathy. Results Twenty neonates with genetic epilepsy were identified and compared to 40 neonates with acute provoked seizures. Genetic epilepsies were associated with pathogenic variants in KCNQ2 (n = 12), KCNQ3 (n = 2), SCN2A (n = 2), KCNT1 (n = 1), PRRT2 (n = 1), and BRAT1 (n = 2). All neonates with genetic epilepsy had seizures with clinical correlates that were either tonic (18/20) or myoclonic (2/20). In contrast, 17 of 40 (42%) neonates with acute provoked seizures had electrographic only seizures, and the majority of the remainder had clonic seizures. Time to first seizure was longer in neonates with genetic epilepsies (median = 60 h of life) compared to neonates with acute provoked seizures (median = 15 h of life, p < .001). Sodium channel-blocking antiseizure medications were effective in 13 of 14 (92%) neonates with tonic seizures who were trialed at onset or during the course of the epilepsy. Significance Seizure semiology is an easily accessible sign of genetic epilepsies in neonates. Early identification of the seizure type can prompt appropriate workup and treatment. Tonic seizures are associated with channelopathies and are often controlled by sodium channel-blocking antiseizure medications.