Neurology · 2004 · 211 citations · 3 references
MedicineGeneticsPharmacologyEpilepsyPharmacogeneticsPharmacogenomicsDrug ResistanceDrug Transporter GeneticsDrug-resistant EpilepsyEpilepsy GeneticsEtiology Of EpilepsyTransporter PharmacologyAbcb1 Genetic VariationAssociation Study ReplicationAtp-binding Cassette Transporter PolymorphismsAtp-binding Cassette TransportersPharmacogenetics In EpilepsyReplication Study DesignTransporter Gene PolymorphismsTransporter Polymorphism Effects
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.
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Parameters for reliable results in genetic association studies in common disease
Ingrid Dahlman, Iain A. Eaves, Roman Kosoy et al. · Nature Genetics · 2002 · 232 citations