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NEUROLOGY 2004;63:1090-1092
© 2004 American Academy of Neurology
Brief Communications

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

N. C.K. Tan, MRCP(UK), S. E. Heron, BSc(Hons), I. E. Scheffer, FRACP, J. T. Pelekanos, FRACP, J. M. McMahon, BSc(Hons), D. F. Vears, BBSc/BSc(Hons), J. C. Mulley, PhD and S. F. Berkovic, MD

From the Epilepsy Research Centre and Department of Medicine (Neurology) (Drs. Tan, Scheffer, Pelekanos, and Berkovic, and J.M. McMahon and D.F. Vears), University of Melbourne; and Department of Genetic Medicine (S.E. Heron and Dr. Mulley), Women’s and Children’s Hospital and Department of Molecular Biosciences, University of Adelaide, Australia.

Address correspondence and reprint requests to Professor Samuel F. Berkovic, Epilepsy Research Centre, University of Melbourne, 1st Floor Neurosciences Building, Austin Health, Banksia Street, Heidelberg West VIC 3081, Australia; e-mail: s.berkovic{at}unimelb.edu.au

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.

Received February 17, 2003. Accepted in final form April 14, 2004.

Additional material related to this article can be found on the Neurology Web site. Go to www.neurology.org and scroll down the Table of Contents for the September 28 issue to find the title link for this article.

See also pages 955 and 1087

Dr. Scheffer and Dr. Berkovic have equity in Bionomics Ltd. Dr. Mulley has acted as a consultant to Bionomics Ltd. and received honoraria in excess of $10,000. Dr. Berkovic has received honoraria from Bionomics Ltd.


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