A case of SUDEP in a patient with Dravet syndrome with SCN1A mutation

被引：52

作者：

Le Gal, Francois

Korff, Christian M. ^{[1
]}

Monso-Hinard, Christine

Mund, Michael T. ^{[2
]}

Morris, Michael

Malafosse, Alain ^{[3
]}

Schmitt-Mechelke, Thomas ^{[4
]}

机构：

[1] Univ Hosp Geneva, Child & Adolescent Dept, Pediat Specialties Serv, Geneva, Switzerland

[2] Univ Zurich, Inst Legal Med, Zurich, Switzerland

[3] Univ Geneva, Dept Psychiat, Geneva, Switzerland

[4] Childrens Hosp, Dept Childhood Neurol, Luzern, Switzerland

来源：

EPILEPSIA | 2010年 / 51卷 / 09期

关键词：

SUDEP; Dravet syndrome; SMEI; SCN1A; SUDDEN UNEXPECTED DEATH; SODIUM-CHANNEL; EPILEPSY;

D O I：

10.1111/j.1528-1167.2010.02691.x

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

P>A boy with a clinical history of pharmacologically resistant Dravet syndrome died suddenly after falling asleep. The autopsy concluded that the cause of death was sudden unexpected death in epilepsy (SUDEP). Postmortem molecular analysis of the SCN1A gene by multiplex ligation-dependent probe amplification (MLPA), high-resolution melting curve analysis (HRMCA), and sequencing revealed a frameshift duplication of adenosine at position 504. The incidence of this mutation is discussed as a potential cause of SUDEP.

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收藏

页码：1915 / 1918

页数：4

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