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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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  • Lack of association of SCN2A and KCNJ10 polymorphisms in Korean children with epilepsy: intractability and relapse of epilepsy
  • Lack of association of SCN2A and KCNJ10 polymorphisms in Korean children with epilepsy: intractability and relapse of epilepsy
저자명
Yoon. Jung Hwan,Choi. Byung Joon,Park. Yong Gyu,Kang. Young Hwi,Nam. Suk Woo,Lee. Jung Young,Park. Won Sang
간행물명
Molecular & cellular toxicology
권/호정보
2012년|8권 1호|pp.61-67 (7 pages)
발행정보
대한독성유전단백체학회
파일정보
정기간행물|ENG|
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이 논문은 한국과학기술정보연구원과 논문 연계를 통해 무료로 제공되는 원문입니다.
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기타언어초록

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.