Development of novel rat models for epilepsy and their molecular pathologic analysis

采用表型驱动的ENU突变方法，在电压门控钾通道基因Kcna 1中发现了一个S309T错义突变，该突变是人类发作性共济失调1型（EA1）的致病基因。我们还确定了一个错义突变的基因与氧化应激作为癫痫大鼠模型。通过基因驱动的ENU突变，我们已经产生了Lgi1突变体（L385 R）大鼠作为人类常染色体显性遗传侧颞叶癫痫（ADLTE）的大鼠模型。这些癫痫大鼠可从日本国家生物资源项目免费获得。

By phenotype-driven ENU mutagenesis approach, we identified a S309T missense mutation in voltage-gated potassium channel, Kcna1 gene, which was the causative gene of human Episodic ataxia type1 (EA1). We have also identified a missense mutation in the gene associated with the oxidant stress as an epileptic rat model. By gene-driven ENU mutagenesis, we have generated Lgi1mutant (L385R) rats as a rat model for the human autosomal dominant lateral temporal lobe epilepsy (ADLTE). These epileptic rats are freely available from the National Bio-Resource Project for the rat in Japan.