Genetic Medicine, University Hospitals of Geneva, Geneva, Switzerland.
Epilepsia. 2010 Sep;51(9):1915-8. doi: 10.1111/j.1528-1167.2010.02691.x.
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.
一名患有药物难治性德雷夫特综合征的男孩在入睡后突然猝死。尸检结果表明，死亡原因是癫痫性猝死（SUDEP）。通过多重连接依赖性探针扩增（MLPA）、高分辨率熔解曲线分析（HRMCA）和测序对 SCN1A 基因进行的死后分子分析显示，504 位腺嘌呤发生移码重复。讨论了这种突变的发生率，认为其可能是 SUDEP 的一个潜在原因。
