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雷特综合征中的癫痫——国家雷特中心的经验。

Epilepsy in Rett syndrome---the experience of a National Rett Center.

机构信息

Pediatric Neurology Unit, Safra Children Hospital, Tel Ha Shomer, Israel.

出版信息

Epilepsia. 2010 Jul;51(7):1252-8. doi: 10.1111/j.1528-1167.2010.02597.x. Epub 2010 May 13.

Abstract

PURPOSE

Rett syndrome (RTT), an X-linked, dominant neurodevelopmental disorder caused by mutations in the methyl-CpG-binding protein 2 (MECP2) gene, presents with acquired microcephaly, autistic regression, hand usage loss, and stereotypies. Epilepsy is frequent and has been reported to correlate with mutation type, general disease severity, and BDNF polymorphism. Our purpose was a comprehensive description of epilepsy features and course in RTT.

METHODS

Retrospective review of charts and electroencephalography (EEG) studies in 97 patients with RTT.

RESULTS

Seventy-two percent of patients had epilepsy, appearing at a median age of 3 years. According to age of onset, we divided patients into three groups: 6 with early epileptic variant (0-1 year), 42 with early epilepsy (1-5 years), and 20 with late epilepsy (after 5 years). Early epileptic variant had severe seizure types in the first year of life, followed by a typical RTT picture; all were MECP2 negative. Early epilepsy and late epilepsy groups were similar with respect to Rett-related symptoms, but seizures were better controlled in the second group (p < 0.05). Epileptiform activity appeared earlier and was more confluent in the early epilepsy group, including nine patients with electrical status epilepticus during sleep (ESES) versus one in the late epilepsy group (p < 0.05). No correlation was found between epilepsy onset or severity and genotype. BDNF val/met polymorphism correlated with earlier onset of seizures (p < 0.05).

DISCUSSION

Epilepsy appears earlier than described previously, frequently during the regression stage. Early age of onset predicts a more severe course of seizures. ESES is common among those with early onset epilepsy. BDNF polymorphism was the only genetic correlate with seizure onset, whereas MECP2 mutation type and location did not influence epilepsy.

摘要

目的

雷特综合征(RTT)是一种 X 连锁显性神经发育障碍,由甲基化CpG 结合蛋白 2(MECP2)基因突变引起,表现为获得性小头畸形、自闭症退化、手功能丧失和刻板行为。癫痫较为常见,且与突变类型、疾病总体严重程度和 BDNF 多态性相关。本研究旨在全面描述 RTT 中癫痫的特征和病程。

方法

对 97 例 RTT 患者的病历和脑电图(EEG)研究进行回顾性分析。

结果

72%的患者患有癫痫,发病中位年龄为 3 岁。根据发病年龄,我们将患者分为三组:6 例早发性癫痫变异型(0-1 岁),42 例早发性癫痫(1-5 岁)和 20 例晚发性癫痫(5 岁后)。早发性癫痫变异型在生命的第一年出现严重的癫痫发作类型,随后出现典型的 RTT 表现;均为 MECP2 阴性。早发性癫痫和晚发性癫痫组在 Rett 相关症状方面相似,但后者的癫痫发作控制较好(p<0.05)。早发性癫痫组更早出现癫痫样活动且更弥漫,其中 9 例患者出现睡眠中电持续状态(ESES),而晚发性癫痫组仅有 1 例(p<0.05)。癫痫发作的起始或严重程度与基因型无相关性。BDNF val/met 多态性与癫痫发作的起始时间较早相关(p<0.05)。

讨论

癫痫的出现早于之前的描述,常发生在退行期。发病年龄早提示癫痫发作更严重。早发性癫痫常伴有 ESES。BDNF 多态性是与癫痫发作起始相关的唯一遗传因素,而 MECP2 突变类型和位置并不影响癫痫。

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