Please use this identifier to cite or link to this item: https://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
DOI: 10.1212/01.WNL.0000137051.33486.C7
Description (link): http://www.neurology.org/cgi/content/abstract/63/6/1090
Appears in Collections:Aurora harvest 6
Molecular and Biomedical Science publications

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