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KMID : 1034820120080010061
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Molecular & Cellular Toxicology
2012 Volume.8 No. 1 p.61 ~ p.67
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Lack of association of SCN2A and KCNJ10 polymorphisms in Korean children with epilepsy: intractability and relapse of epilepsy
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Yoon Jung-Hwan
Choi Byung-Joon
Park Yong-Gyu
Kang Young-Hwi
Nam Suk-Woo
Lee Jung-Young
Park Won-Sang
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Abstract
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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.
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KEYWORD
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Epilepsy, SCN2A, KCNJ10, Polymorphisms, Korean children
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