20 号环状染色体：一种儿科钾通道病，对依佐加滨治疗有反应。
Ring chromosome 20: a pediatric potassium channelopathy responsive to treatment with ezogabine.
机构信息
Section of Neurology, Department of Pediatrics, St. Christopher's Hospital for Children, Drexel University College of Medicine, Philadelphia, Pennsylvania.
出版信息
Pediatr Neurol. 2013 Nov;49(5):368-9. doi: 10.1016/j.pediatrneurol.2013.06.005. Epub 2013 Aug 2.
BACKGROUND
Ring chromosome 20 is a genetic disorder characterized by intractable epilepsy, behavioral problems, and cognitive deficit. The potassium channel-coding gene KCNQ2 is localized at the locus q13.3 on the chromosome 20, the most common site where the ring occurs. Ezogabine is the first potassium channel opener marketed in the United States.
PATIENTS
We describe an 8-year-old girl with mosaic ring chromosome 20 and refractory epilepsy who had a remarkable improvement in seizure control with ezogabine.
CONCLUSIONS
This is the first report using the new antiepileptic drug ezogabine to treat pediatric epilepsy. We hypothesize that ring chromosome 20 patients have epilepsy related to abnormalities in the potassium channels, making it susceptible for treatment with potassium channel openers.
背景
环状染色体 20 是一种遗传性疾病，其特征为顽固性癫痫、行为问题和认知缺陷。钾通道编码基因 KCNQ2 位于染色体 20 的 q13.3 基因座上，该部位是环状发生的最常见部位。依佐加滨是美国上市的首个钾通道开放剂。
患者
我们描述了一例 8 岁女孩患有镶嵌性环状染色体 20 和难治性癫痫，依佐加滨治疗使癫痫发作得到显著控制。
结论
这是首例使用新型抗癫痫药物依佐加滨治疗儿科癫痫的报道。我们假设环状染色体 20 患者的癫痫与钾通道异常有关，使钾通道开放剂治疗变得敏感。
Zotero 插件