Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy

被引:164
作者
Tan, NCK
Heron, SE
Scheffer, IE
Pelekanos, JT
McMahon, JM
Vears, DF
Mulley, JC
Berkovic, SF
机构
[1] Univ Melbourne, Epilepsy Res Ctr, Austin Hlth, Heidelberg, Vic 3081, Australia
[2] Univ Melbourne, Dept Med, Parkville, Vic 3052, Australia
[3] Univ Adelaide, Womens & Childrens Hosp, Dept Med Genet, Adelaide, SA 5005, Australia
[4] Univ Adelaide, Dept Mol Biosci, Adelaide, SA 5005, Australia
关键词
D O I
10.1212/01.WNL.0000137051.33486.C7
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
Alteration of ATP-binding cassette subfamily B member 1 transporter (ABCB1) can plausibly cause drug-resistant epilepsy as it influences brain penetration of drugs. The CC genotype at the ABCB1 C3435T polymorphism was reported to be associated with multidrug resistance. A replication study in 401 drug-resistant and 208 drug-responsive subjects with epilepsy showed no significant association between the CC genotype and drug-resistant epilepsy. The authors suggest the initial association may have arisen by chance.
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收藏
页码:1090 / 1092
页数:3
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