کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
6015910 | 1186086 | 2013 | 4 صفحه PDF | دانلود رایگان |

- Cardiac arrhythmias and Epilepsy can be associated to mutations in ion channel genes.
- Few genetic study have addressed the link between cardiac and neural channellopathy.
- Here, we describe a Family showing both, Brugada Syndrome and Epilepsy.
- A SCN5A mutation can be responsible for cardiac and brain involvment at different age.
SummaryCardiac 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.
Journal: Epilepsy Research - Volume 105, Issue 3, August 2013, Pages 415-418