Child Neurology, NESMOS Department, Faculty of Medicine and Psychology, "Sapienza University", Rome, Italy.
Epilepsy Res. 2013 Aug;105(3):415-8. doi: 10.1016/j.eplepsyres.2013.02.024. Epub 2013 Mar 25.
Cardiac arrhythmias are associated with abnormal channel function due to mutations in ion channel genes. Epilepsy is a disorder of neuronal function also involving abnormal channel function. It is increasingly demonstrated that the etiologies of long QT syndrome and epilepsy may partly overlap. However, only a few genetic studies have addressed a possible link between cardiac and neural channelopathies. We describe a family showing the association between Brugada syndrome and epilepsy in which a known mutation in the SCN5A gene (p.W1095X, c.3284G>A) was identified. We suggest that this mutation can be responsible for cardiac and brain involvement, probably at different developmental age in the same individual. This observation confirms the possibility that SCN5A mutations may confer susceptibility for recurrent seizure activity, supporting the emerging concept of a genetically determined cardiocerebral channelopathy.
心律失常与离子通道基因突变导致的异常通道功能有关。癫痫是一种神经元功能障碍疾病，也涉及异常通道功能。越来越多的证据表明，长 QT 综合征和癫痫的病因可能部分重叠。然而，只有少数遗传研究探讨了心脏和神经通道病之间的可能联系。我们描述了一个家族，该家族表现为 Brugada 综合征和癫痫之间的关联，在该家族中发现了 SCN5A 基因（p.W1095X，c.3284G>A）的已知突变。我们认为该突变可能导致心脏和大脑受累，可能在同一个体的不同发育年龄。这一观察结果证实了 SCN5A 突变可能导致复发性癫痫活动的易感性，支持了一种遗传性决定的心脑通道病的新兴概念。
