Huppke Peter, Köhler Karola, Brockmann Knut, Stettner Georg M, Gärtner Jutta
Department of Pediatrics and Pediatric Neurology, Georg August University, Robert-Koch-Strasse 40, D-37075 Göttingen, Germany.
Eur J Paediatr Neurol. 2007 Jan;11(1):10-6. doi: 10.1016/j.ejpn.2006.09.003. Epub 2006 Dec 18.
Epilepsy is very frequent in Rett syndrome (RTT) patients and often difficult to treat. Because most cases of RTT are caused by mutations in the MECP2 gene it is reasonable to assume that convulsions are based on common pathogenetic mechanisms and thus should have a similar response to antiepileptic drugs.
To find the optimal treatment for epilepsy in RTT.
We performed a retrospective study on 110 female patients with confirmed MECP2 mutations.
The median age was 10 years, 58% had a history of epilepsy and 55% received antiepileptic drugs (AEDs). Only sulthiame, carbamazepine and valproate were administered in an adequate frequency to allow statistical analysis. The best anticonvulsive results were seen in the RTT group that was treated with carbamazepine. Sulthiame was slightly less effective while valproate was significantly less effective. The rate of side effects was equivalent in all groups. In conclusion, carbamazepine should be recommended as first choice AED in RTT. If carbamazepine is not effective or not well tolerated sulthiame ought to be taken as second choice AED.
癫痫在雷特综合征（RTT）患者中非常常见，且往往难以治疗。由于大多数RTT病例是由MECP2基因突变引起的，因此可以合理推测惊厥基于共同的发病机制，因此对抗癫痫药物应具有相似的反应。
寻找RTT中癫痫的最佳治疗方法。
我们对110例确诊为MECP2突变的女性患者进行了一项回顾性研究。
中位年龄为10岁，58%有癫痫病史，55%接受了抗癫痫药物（AEDs）治疗。只有舒噻美、卡马西平和丙戊酸盐的给药频率足以进行统计分析。在接受卡马西平治疗的RTT组中观察到最佳的抗惊厥效果。舒噻美的效果稍差，而丙戊酸盐的效果明显较差。所有组的副作用发生率相当。总之，卡马西平应被推荐为RTT中AED的首选。如果卡马西平无效或耐受性不佳，舒噻美应作为AED的第二选择。
