González Alba, Aurlien Dag, Haugaa Kristina H, Taubøll Erik
Department of Neurology, Oslo University Hospital - Rikshospitalet, PO Box 4950, Nydalen, 0424 Oslo, Norway.
Faculty of Medicine, University of Oslo, PO Box 1072, Blindern, 0316 Oslo, Oslo, Norway.
Epilepsy Behav Case Rep. 2018 Oct 9;10:118-121. doi: 10.1016/j.ebcr.2018.09.006. eCollection 2018.
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 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 gene can cause epilepsy.
先天性长QT综合征（cLQTS）是一种遗传性心脏疾病，与心源性猝死相关。我们描述了一个挪威家庭，其基因内存在导致1型先天性长QT综合征（LQT1）和癫痫的突变。索引患者患有伴有耳聋和反复心律失常发作的杰韦尔和朗格-尼尔森综合征（JLNS）。母亲和兄弟患有伴有反复心律失常的 Romano-Ward综合征（RWS）。父亲患有局灶性癫痫且基因检测证实为LQT1，而妹妹同时患有局灶性癫痫和RWS。我们的研究结果与该基因中的突变可导致癫痫这一观点一致。
