A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations
A Distinctive Ictal Amplitude-Integrated Electroencephalography Pattern in Newborns with Neonatal Epilepsy Associated with KCNQ2 Mutations
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DOI：
10.1159/000478651
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发表时间：
2017-01-01
期刊：
影响因子：
2.5
通讯作者：
Cilio, Maria Roberta
中科院分区：
文献类型：
--
作者：
Vilan, Ana;Ribeiro, Jose Mendes;Cilio, Maria Roberta
背景资料：反复发作和长期发作对发育中的大脑有害，强调了早期识别和有效治疗的重要性。振幅整合脑电图（aEEG）已成为诊断癫痫发作的一种有价值的工具，同时，遗传病因越来越多地被认识到，改变了新生儿癫痫发作的检查和管理模式。目的：探讨KCNQ 2相关性癫痫新生儿发作期aEEG的特点。受试者和方法：在这项多中心描述性研究中，报告了9例KCNQ2突变新生儿的临床资料和aEEG表现。结果：难治性癫痫发生于新生儿早期，具有相似的癫痫发作类型，包括强直性、呼吸暂停和血氧饱和度下降。9例患者中有8例出现明显的aEEG发作模式，包括aEEG的上下缘突然上升，随后aEEG振幅明显下降。在最近的2例病例中，对这种模式的及时识别导致了卡马西平的早期治疗。结论：使用aEEG早期识别电临床表型可能会指导基因检测和KCNQ2突变新生儿钠通道阻滞剂的精确医学方法。(C)2017 S. Karger AG，巴塞尔
Background: Recurrent and prolonged seizures are harmful for the developing brain, emphasizing the importance of early seizure recognition and effective therapy. Amplitude-integrated electroencephalography (aEEG) has become a valuable tool to diagnose epileptic seizures, and, in parallel, genetic etiologies are increasingly being recognized, changing the paradigm of the workup and management of neonatal seizures. Objective: To report the ictal aEEG pattern in neonates with KCNQ2-related epilepsy. Subjects and Methods: In this multicenter descriptive study, clinical data and aEEG findings of 9 newborns with KCNQ2 mutations are reported. Results: Refractory seizures occurred in the early neonatal period with similar seizure type, including tonic features, apnea, and desaturation. A distinct aEEG seizure pattern, consisting of a sudden rise of the lower and upper margin of the aEEG, followed by a marked depression of the aEEG amplitude, was found in 8 of the 9 patients. Prompt recognition of this pattern led to early treatment with carbamazepine in the 2 most recent cases. Conclusion: Early recognition of the electroclinical phenotype by using aEEG may direct genetic testing and a precision medicine approach with sodium channel blockers in neonates with KCNQ2 mutations. (C) 2017 S. Karger AG, Basel