Cellular mechanisms underlying absence epilepsy

失神癫痫是特发性全身性癫痫最常见的形式。它每天可导致数百次癫痫发作，主要影响4至8岁的儿童。其原因在大多数情况下是未知的。在这项研究中，我们将使用一个大鼠模型缺失癫痫来研究这种疾病的细胞基础。初步研究表明，一种特殊的蛋白质- HCN1 -在患有癫痫的大鼠的皮层中减少。这种蛋白质编码神经细胞膜上的一个孔，它的作用就像一个开关。我们有初步证据表明，在患有缺乏性癫痫的大鼠中，这种开关不能正常工作。我们希望研究这如何影响癫痫大鼠的神经细胞活动。此外，由于缺乏性癫痫是一种遗传性疾病，我们希望找到这种疾病的遗传基础。这将为我们在这个大鼠模型中找到疾病的原因提供线索。这项研究将揭示HCN1蛋白在缺失性癫痫中的潜在重要作用，这可能为开发治疗缺失性癫痫的药物提供一个潜在的新治疗靶点。

Absence epilepsy is the commonest form of idiopathic generalized epilepsy. It can lead to hundreds of seizures per day, and mainly affects children between the ages of four and eight. Its cause is in most cases unknown. In this study we will use a rat model of absence epilepsy to investigate the cellular basis of this disease. Preliminary work indicates that a particular protein - HCN1 - is reduced in the cortex of rats with absence epilepsy. This protein codes for a pore in the membrane of nerve cells, which acts like a switch. We have preliminary evidence that in rats with absence epilepsy this switch does not work properly. We wish to investigate how this influences the activity of nerve cells in rats with absence epilepsy. Furthermore, as absence epilepsy is an inherited disease, we wish to track down the genetic basis of this disease. This will give us clues as to the cause of the disease in this rat model. This research will shed light on the potentially important role of the HCN1 protein in absence epilepsy, which may represent an potentially new therapeutic target for the development of drugs for the treatment of absence epilepsy.