脑电图中伴有亚临床癫痫样放电的儿童亚甲基四氢叶酸还原酶（MTHFR）多态性。
Interictal epileptiform discharges on electroencephalography in children with methylenetetrahydrofolate reductase (MTHFR) polymorphisms.
机构信息
Department of Pediatric Neurology, Faculty of Medicine, Medeniyet University, Istanbul, Turkey.
Umraniye Training and Research Hospital Department of Pediatric Neurology, Umraniye, Istanbul, Turkey.
出版信息
Neurol Sci. 2020 Mar;41(3):631-636. doi: 10.1007/s10072-019-04119-4. Epub 2019 Nov 16.
OBJECTIVE
Methylenetetrahydrofolate reductase (MTHFR) is an important enzyme involved in folate metabolism. MTHFR C677T and A1298C polymorphisms are best-defined variants of MTHFR that were reported to be associated with epilepsy development. The aim of the study was to determine the incidence of interictal epileptiform discharges on electroencephalography (EEG) in asymptomatic children with C677T and A1298C polymorphisms who had no history of seizure.
METHODS
Children with MTHFR C677T or A1298C polymorphisms who had normal neurological examination without a history of seizure were included in the study. Blood samples for serum folate, vitamin B12, and homocysteine levels were analyzed. Sleep and awake electroencephalograms (EEG) were recorded.
RESULTS
A total of 102 children (50 girls and 52 boys) with a mean age of 59.4 ± 58.7 months were included in the study. Interictal epileptiform EEG discharges were detected in 3 children (2.9%).
CONCLUSION
There was no increase in the prevalence of interictal epileptiform discharges in seizure-free and asymptomatic children with MTHFR C677T and A1298C polymorphisms.
目的
亚甲基四氢叶酸还原酶（MTHFR）是参与叶酸代谢的重要酶。MTHFR C677T 和 A1298C 多态性是 MTHFR 最明确的变异，据报道与癫痫发作有关。本研究的目的是确定无癫痫发作史的无症状 MTHFR C677T 和 A1298C 多态性儿童的脑电图（EEG）中发作间期癫痫样放电的发生率。
方法
本研究纳入了 MTHFR C677T 或 A1298C 多态性且无癫痫发作史的神经检查正常的儿童。分析血清叶酸、维生素 B12 和同型半胱氨酸水平的血液样本。记录睡眠和清醒脑电图（EEG）。
结果
共纳入 102 名儿童（50 名女孩和 52 名男孩），平均年龄为 59.4±58.7 个月。有 3 名儿童（2.9%）检测到发作间期癫痫样 EEG 放电。
结论
无癫痫发作和无症状的 MTHFR C677T 和 A1298C 多态性儿童，发作间期癫痫样放电的发生率没有增加。
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