Objective:

MECP2 duplication syndrome (MECP2DS) is an x-linked recessive syndrome characterized by infantile hypotonia, severe neurodevelopmental delay, intellectual disability, progressive spasticity, recurrent infections, and seizures. More than 50% of cases have been associated with epilepsy. Seizure semiology and electroencephalogram (EEG) findings in these patients are poorly described.

Methods:

In this case series, the authors describe the electroclinical features of children with MECP2DS presenting to their institution. In addition, they reviewed seizure types and therapies used.

Results:

Eight out of 9 patients with MECP2DS developed epilepsy, with 56% having normal initial EEG. Generalized slowing with generalized and focal/multifocal discharges was the most common EEG pattern which is consistent with prior studies. Atonic seizure was the most common semiology. Majority were pharmacoresistant (63%).

Conclusion:

The goal of this case series is to better define the clinical and electrophysiological aspects of the epilepsy associated with MECP2 duplication syndrome and provide practical guidance regarding management.

中文翻译：

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MECP2重复综合征的电临床特征：儿科病例系列

客观的：

MECP2重复综合征 (MECP2DS) 是一种 X 连锁隐性综合征，其特征是婴儿肌张力减退、严重的神经发育迟缓、智力障碍、进行性痉挛、反复感染和癫痫发作。超过 50% 的病例与癫痫有关。对这些患者的癫痫发作症状学和脑电图 (EEG) 表现的描述很少。

方法：

在本案例系列中，作者描述了在其机构就诊的 MECP2DS 儿童的电临床特征。此外，他们还审查了癫痫发作类型和使用的治疗方法。

结果：

9 名 MECP2DS 患者中有 8 名出现癫痫，其中 56% 的初始脑电图正常。全身性和局灶性/多灶性放电的全身性减慢是最常见的脑电图模式，这与先前的研究一致。失张力发作是最常见的症状学。大多数是耐药的（63%）。

结论：

本案例系列的目的是更好地定义与MECP2重复综合征相关的癫痫的临床和电生理方面，并提供有关管理的实用指导。