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KMID : 1034820140100020223
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Molecular & Cellular Toxicology
2014 Volume.10 No. 2 p.223 ~ p.228
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Genetic association of KCNA5 and KCNJ3 polymorphisms in Korean children with epilepsy
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Choi Byung-Joon
Yoon Jung-Hwan
Choi Won-Seok
Kim Olga
Nam Suk-Woo
Park Won-Sang
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Abstract
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Shaker-like potassium channel and inward rectifying potassium channel are involved in spontaneity of seizure and pharmacoresistant seizure. Kv1.5 (KCNA5) is a Shaker subfamily channel gene. Mutations of Shaker subfamily channels lead to epilepsy. In addition, Kir3.1 inwardly rectifying channel (KCNJ3) is also one of the independent genes associated with seizure susceptibility. We investigated the allele and genotype frequencies of KCNA5 G182R and E211D polymorphisms and KCNJ3 T1505 polymorphism in 160 Korean pediatric epilepsy patients and 369 healthy Korean children. For the KCNA5 gene, the G182R and E211D polymorphisms showed only the C/C genotype in both healthy and epilepsy groups. For the KCNJ3 gene, the frequency of genotype A/A, A/T, and T/T was 142, 16, and 2 in epilepsy and 327, 42, and 0 in healthy individuals, respectively (P<0.05). Polymorphisms of the KCNA5 G182R and E211D and the KCNJ3 T1505 may not be associated with epilepsy in Koreans.
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KEYWORD
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Epilepsy, KCNA5, KCNJ3, Polymorphism, Korean, Seizure
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