Myoclonus Epilepsy and Ataxia due to Potassium channel mutation (MEAK) is a rare epilepsy caused by changes in the structure and function of potassium channels due to mutations in the potassium voltage-gated channel subfamily C member 1 (KCNC1) gene. MEAK is one of the progressive myoclonus epilepsy (PME), and there are few studies on MEAK pathogenesis and targeted drugs. Here, we used peripheral blood from MEAK patients with KCNC1 (c.959G > A) gene mutation to establish induced pluripotent stem cells (iPSC). The iPSC of KCNC1 mutation established by us is a powerful tool for related research.

中文翻译：

---

衍生自患有KCNC1突变的癫痫患者外周血单核细胞的诱导性多能干细胞GZHMCi001-A和GZHMCi001-B。

钾通道突变（MEAK）引起的肌阵挛性癫痫和共济失调是一种罕见的癫痫病，是由钾电压门控通道亚家族C成员1（KCNC1）基因突变引起的钾通道结构和功能变化引起的。MEAK是进行性肌阵挛性癫痫（PME）之一，关于MEAK发病机制和靶向药物的研究很少。在这里，我们使用了具有KCNC1（c.959G> A）基因突变的MEAK患者的外周血来建立诱导性多能干细胞（iPSC）。我们建立的KCNC1突变iPSC是进行相关研究的有力工具。