The incidence of SCN1A-related Dravet syndrome in Denmark is 1: 22,000: A population-based study from 2004 to 2009

被引：105

作者：

Bayat, Allan ^{[1
]}

Hjalgrim, Helle ^{[2
,3
]}

Moller, Rikke S. ^{[2
,3
]}

机构：

[1] Copenhagen Univ Hosp, Dept Clin Genet, Copenhagen, Denmark

[2] Danish Epilepsy Ctr, Dianalund, Denmark

[3] Univ Southern Denmark, Inst Reg Hlth Serv, Odense, Denmark

来源：

EPILEPSIA | 2015年 / 56卷 / 04期

关键词：

Epileptic encephalopathy; Severe myoclonic epilepsy in infancy; Dravet syndrome; SCN1A mutation; SEVERE MYOCLONIC EPILEPSY; INFANCY; MUTATIONS; FEATURES; SUBUNIT; SCN1A;

D O I：

10.1111/epi.12927

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：E36 / E39

页数：4

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