Alba González , Dag Aurlien , Kristina H. Haugaa , Erik Taubøll
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引用次数: 12
摘要
先天性长QT综合征(cLQTS)是一种遗传性心脏疾病，与心源性猝死有关。我们描述了一个挪威家族，KCNQ1基因突变导致cLQTS 1型(LQT1)和癫痫。指标患者为Jervell and Lange-Nielsen-syndrome (JLNS)伴耳聋和心律失常反复发作。母亲和弟弟患有罗曼诺-沃德综合征(RWS)，并伴有反复发作的心律失常。父亲患有局灶性癫痫和遗传上证实的LQT1，而妹妹同时患有局灶性癫痫和RWS。我们的发现与KCNQ1基因突变可导致癫痫的观点一致。
Epilepsy in patients with long QT syndrome type 1: A Norwegian family
The congenital long QT syndrome (cLQTS) is an inherited cardiac disorder and is associated with sudden cardiac death. We describe a Norwegian family with mutations within the KCNQ1 gene causing cLQTS type 1 (LQT1) and epilepsy. The index patient had Jervell and Lange-Nielsen-syndrome (JLNS) with deafness and recurrent episodes of cardiac arrhythmia. The mother and the brother have Romano-Ward syndrome (RWS) with recurrent arrhythmias. Whereas the father has focal epilepsy and genetically verified LQT1, the sister has both focal epilepsy and RWS.
Our findings are consistent with the notion that mutations in the KCNQ1 gene can cause epilepsy.
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