Bayat Allan, Hjalgrim Helle, Møller Rikke S
Department of Clinical Genetics, Copenhagen University Hospital, Copenhagen, Denmark.
Epilepsia. 2015 Apr;56(4):e36-9. doi: 10.1111/epi.12927. Epub 2015 Mar 16.
Dravet syndrome is a severe infantile-onset epileptic encephalopathy associated with mutations in the sodium channel alpha-1 subunit gene SCN1A. We aimed to describe the incidence of Dravet syndrome in the Danish population. Based on a 6-year birth cohort from 2004 to 2009, we propose an incidence of 1:22,000, which is higher than what has been established earlier. We identified 17 cases with SCN1A mutation-positive Dravet syndrome. Fifteen patients were found, by conventional Sanger sequencing. Two additional patients with clinical Dravet syndrome, but without a detectable SCN1A mutation by Sanger sequencing, were diagnosed with a SCN1A mutation after using a targeted next-generation sequencing gene panel.
德雷维特综合征是一种严重的婴儿期起病的癫痫性脑病,与钠通道α-1亚基基因SCN1A的突变有关。我们旨在描述丹麦人群中德雷维特综合征的发病率。基于2004年至2009年的一个6年出生队列,我们提出发病率为1:22,000,这高于先前确定的发病率。我们确定了17例SCN1A突变阳性的德雷维特综合征病例。通过传统的桑格测序发现了15例患者。另外两名临床诊断为德雷维特综合征但通过桑格测序未检测到SCN1A突变的患者,在使用靶向新一代测序基因panel后被诊断出存在SCN1A突变。