Mortality in Dravet syndrome
Mortality in Dravet syndrome
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DOI：
10.1016/j.eplepsyres.2016.10.006
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发表时间：
2016-12-01
影响因子：
2.2
通讯作者：
Scheffer, Ingrid E.
中科院分区：
文献类型：
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作者：
Cooper, Monica S.;Mcintosh, Anne;Scheffer, Ingrid E.
我们测量了Dravet综合征（DS）的死亡率和癫痫猝死（SUDEP）率。我们研究了100例连续招募的无亲缘关系的DS患者，其中87例有SCN 1A突变。存活病例的中位随访时间为17年。17例患者死亡，中位年龄为7岁（四分位数间距3-11岁），死亡原因：10例SUDEP，4例癫痫持续状态，2例溺水和1例窒息。SUDEP分类包括三个确定，一个确定+和六个可能。Dravet特异性死亡率/1000人-年为15.84（98% CI 9.01-27.85）。Dravet特异性SUDEP发生率为9.32/1000人-年（98% CI 4.46-19.45）。Dravet特异性SUDEP率是唯一记录的综合征特异性SUDEP率。DS的SUDEP主要发生在儿童时期。这也是最高的SUDEP率，远高于最近5.1 SUDEP率/1000人年的成人难治性癫痫。(C)2016爱思唯尔B. V.保留所有权利。
We measured the mortality rate and the rate of Sudden Unexpected Death in Epilepsy (SUDEP) in Dravet Syndrome (DS). We studied a cohort of 100 consecutively recruited, unrelated patients with DS; 87 had SCN1A mutations. Living cases had a median follow-up of 17 years. Seventeen patients died, at a median age of seven years (inter-quartile range 3-11 years) with causes of death: 10 SUDEP, four status epilepticus, two drowning and one asphyxia. The SUDEP classification included three Definite, one Definite Plus and six Probable. The Dravet-specific mortality rate/1000-person-years was 15.84 (98% CI 9.01-27.85). The Dravet-specific SUDEP rate was 9.32/1000-person-years (98% CI 4.46-19.45). The Dravet-specific SUDEP rate is the only documented syndrome-specific SUDEP rate. SUDEP in DS occurs mainly in childhood. It is also the highest SUDEP rate, considerably higher than the recent 5.1 SUDEP rate/1000-person-years for adults with refractory epilepsy. (C) 2016 Elsevier B.V. All rights reserved.