Failure to confirm association of a polymorphism in <i>ABCB1</i> with multidrug-resistant epilepsy

Nigel CK Tan, Sarah E. Heron, Ingrid E. Scheffer, J. T. Pelekanos, Jacinta M. McMahon, Danya F. Vears, John C. Mulley, Samuel F. Berkovic

Neurology · 2004 · 211 citations · 3 references

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.

References

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