Lack of association of SCN2A and KCNJ10 polymorphisms in Korean children with epilepsy: intractability and relapse of epilepsy

Molecular & Cellular Toxicology

Suk Woo Nam¹  Yong Gyu Park¹  Jung Hwan Yoon¹  Jung Young Lee¹  Won Sang Park¹  Young Hwi Kang¹  Byung Joon Choi¹ 

[1] TheCatholic University of Korea$$

关键词: Korean children;   

DOI  :  10.1007/s13273-012-0008-6

学科分类：分子生物学，细胞生物学和基因

来源: Korean Society of Toxicogenomics and Toxicoproteomics

【 摘 要 】

Epilepsy is characterized by recurrence of unprovoked seizures and can be defined as a channelopathy. Recently, it has been reported that susceptibility to epilepsy and responsiveness to antiepileptic drugs was closely associated with polymorphisms in SCN2A and KCNJ10. In order to investigate whether the association was also present in Korean children with epilepsy, the frequencies of the polymorphisms were examined in 162 pediatric epilepsy patients and 391 healthy children. The genotype and allele frequencies of SCN2A R19K and IVS7-A32G showed no significant differences in the genotype and allele frequencies between epilepsy patients and healthy controls (P>0.05). For KCNJ10 R271C, only the C/C genotype was observed in both normal healthy individuals and epilepsy patients. When we classified the patients into relapse and intractable groups, we found that the genotype and allelic frequencies of SCN2A IVS7-A32G and SCN2A R19K were not associated with the recurrence of epilepsy. Therefore, we concluded that the polymorphisms of SCN2A and KCNJ10 genes may not contribute to the development or intractability and relapse of epilepsy in Korean children.

【 授权许可】

Unknown