Hansen Lars Kjaersgård, Rasmussen Niels Henrik, Ousager Lilian Bomme
Odense Universitetshospital, H.C. Andersen Børnehospital, DK-5000 Odense C, Denmark.
Ugeskr Laeger. 2010 Feb 22;172(8):622-5.
Dravet syndrome is an epileptic syndrome of infancy and early childhood. Most cases of Dravet syndrome seem to be due to a genetic defect causing the sodium channel to malfunction. We describe the main features of the syndrome. This epilepsy is medically intractable, but we call attention to the fact that some medications are of benefit and some could exacerbate the condition. Early recognition of the syndrome including by genetic testing could possibly improve outcome and reduce the need for other specialized investigations.
德雷维特综合征是一种婴幼儿期癫痫综合征。大多数德雷维特综合征病例似乎是由于导致钠通道功能异常的基因缺陷所致。我们描述了该综合征的主要特征。这种癫痫在医学上难以治疗,但我们要提醒注意的是,一些药物有益,而一些药物可能会使病情加重。包括通过基因检测在内的该综合征的早期识别可能会改善预后并减少其他专科检查的必要性。