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

Neurology. 2004 Sep 28;63(6):1090-2. doi: 10.1212/01.wnl.0000137051.33486.c7.

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.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • ATP Binding Cassette Transporter, Subfamily B, Member 1 / genetics
  • ATP Binding Cassette Transporter, Subfamily B, Member 1 / physiology*
  • Alleles
  • Amino Acid Substitution
  • Anticonvulsants / pharmacology*
  • Anticonvulsants / therapeutic use
  • Drug Resistance, Multiple / genetics*
  • Epilepsy, Temporal Lobe / drug therapy
  • Epilepsy, Temporal Lobe / genetics*
  • Exons / genetics
  • Gene Frequency
  • Genotype
  • Haplotypes / genetics
  • Hippocampus / pathology
  • Mutation, Missense
  • Polymorphism, Genetic
  • Polymorphism, Single Nucleotide
  • Reproducibility of Results
  • Sclerosis
  • Victoria / epidemiology

Substances

  • ATP Binding Cassette Transporter, Subfamily B, Member 1
  • Anticonvulsants