Aurlien Dag, Leren Trond P, Taubøll Erik, Gjerstad Leif
Neurological Department, Stavanger University Hospital, P.O. Box 8100, 4068 Stavanger, Norway.
Seizure. 2009 Mar;18(2):158-60. doi: 10.1016/j.seizure.2008.07.008. Epub 2008 Aug 27.
Many idiopathic epilepsies have been shown to be caused by ion channel dysfunction. Channelopathies also cause the long QT syndrome (LQTS) which is associated with syncopes and sudden cardiac death. It has been postulated that the same channelopathy may be associated with both epilepsy and LQTS. We report a patient with idiopathic epilepsy who died in sudden unexpected death in epilepsy (SUDEP) at the age of 25. A post mortem DNA sequencing of the LQTS-associated genes revealed a novel missense mutation in the SCN5A gene coding for the cardiac sodium channel, voltage gated, type V, alpha subunit. The possibility that the mutation may explain both the epilepsy and the sudden death is discussed. However, the patient was treated with lamotrigine which may interfere with cardiac ion channels and may also have played a part in inducing a terminal cardiac arrhythmia.
许多特发性癫痫已被证明是由离子通道功能障碍引起的。通道病还会导致长QT综合征（LQTS），这与晕厥和心源性猝死有关。据推测，同一种通道病可能与癫痫和LQTS都有关。我们报告了一名25岁死于癫痫性意外猝死（SUDEP）的特发性癫痫患者。对LQTS相关基因进行尸检DNA测序发现，编码心脏电压门控V型α亚基钠通道的SCN5A基因存在一个新的错义突变。本文讨论了该突变可能同时解释癫痫和猝死的可能性。然而，该患者接受了拉莫三嗪治疗，这可能会干扰心脏离子通道，也可能在诱发终末期心律失常中起了一定作用。
