Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/3132
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Type: Journal article
Title: Failure to confirm association of a polymorphism in ABCB1 with multidrug-resistant epilepsy
Author: Tan, N.
Heron, S.
Scheffer, I.
Pelekanos, J.
McMahon, J.
Vears, D.
Mulley, J.
Berkovic, S.
Citation: Neurology, 2004; 63(6):1090-1092
Publisher: Lippincott Williams & Wilkins
Issue Date: 2004
ISSN: 0028-3878
1526-632X
Abstract: 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.
Keywords: Hippocampus; Epilepsy, Temporal Lobe; Sclerosis; Anticonvulsants; Reproducibility of Results; Amino Acid Substitution; Drug Resistance, Multiple; Gene Frequency; Genotype; Haplotypes; Mutation, Missense; Polymorphism, Genetic; Polymorphism, Single Nucleotide; Alleles; Exons; Victoria; ATP Binding Cassette Transporter, Subfamily B, Member 1
Description: Copyright © 2004 American Academy of Neurology
RMID: 0020040951
DOI: 10.1212/01.WNL.0000137051.33486.C7
Description (link): http://www.neurology.org/cgi/content/abstract/63/6/1090
Appears in Collections:Molecular and Biomedical Science publications

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