INFLUENCE OF THE SCN1A IVS5N + 5 G>A
POLYMORPHISM ON THERAPY
WITH CARBAMAZEPINE FOR EPILEPSY
Sterjev Z1,*, Kiteva G2, Cvetkovska E2, Petrov I2, Kuzmanovski I2, Ribarska TJ3,
Nestorovska KA1, Matevska N1,Trajkovik-Jolevska S3, Dimovski AJ1, Suturkova, Lj1
*Corresponding Author: Zoran Sterjev, M. Sei. Pharm Institute of Pharmaceutical Chemistry, Faculty of
Pharmacy, University “St. Cyril and Methodius,” str. Vodnjanska 17, 1000 Skopje, Republic of Macedonia;
Tel./Fax:+38-923-120-229; E-mail: zost@ff.ukim.edu.mk
page: 19
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Abstract
Carbamazepine (CBZ) blocks neuronal sodium
channels in a voltage- and frequency-dependent
manner, delaying the recovery of the channels from
the inactivated state, reducing the number of action
potentials within a burst, and decreasing burst
duration. The -subunit of the fi rst neuronal sodium
channel (SCN1A) is a major gene in different
epilepsies. A synonymous polymorphism (SCN1A
IVS5N + 5 G>A or rs3812718) is common in exon 5
of this gene. Mutations in the -unit of this gene are
associated with CBZ-resistant epilepsy and a higher
maintenance dose of CBZ. We have investigated the
association of this single nucleotide polymorphism
(SNP) and epilepsy, effi cacy and dose-dependence
of CBZ therapy in 147 adult Macedonian patients
and 137 non epileptic controls. No signifi cant differences
in allelic frequencies and genotype distribution
were found between patients and controls (p
= 0.94278), or between CBZ-responsive and unresponsive
patients (p = 0.55449). An association between
the A allele and a higher maintenance dose in
CBZ-responsive patients was detected. No statistical
difference was found between the plasma levels
of CBZ and genotype of patients receiving the same
dose, indicating that the variant exerts its effect at the
level of receptor responsiveness. The predictive value
of pretreatment testing showed a minor insignifi cant
difference between patients with different genotypes,
primarily due to a small number of patients.
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