Influence of the SCN1A IVS5N + 5 G>A Polymorphism on Therapy with Carbamazepine for Epilepsy

摘要: Carbamazepine (CBZ) blocks neuronal sodium channels in a voltage- and frequency-dependent manner, delaying the recovery of from inactivated state, reducing number action potentials within burst, decreasing burst duration. The -subunit fi rst channel (SCN1A) is major gene different epilepsies. A synonymous polymorphism (SCN1A IVS5N + 5 G>A or rs3812718) common exon this gene. Mutations -unit are associated with CBZ-resistant epilepsy higher maintenance dose CBZ. We have investigated association single nucleotide (SNP) epilepsy, effi cacy dose-dependence CBZ therapy 147 adult Macedonian patients 137 non epileptic controls. No signifi cant differences allelic frequencies genotype distribution were found between controls (p = 0.94278), CBZ-responsive unresponsive 0.55449). An allele was detected. statistical difference plasma levels receiving same dose, indicating that variant exerts its effect at level receptor responsiveness. predictive value pretreatment testing showed minor insignifi genotypes, primarily due to small patients.