title: Association between two functional SNPs of SCN1A gene and efficacy of carbamazepine monotherapy for focal seizures in Chinese Han epileptic patients.
abstract: OBJECTIVE
  To investigate whether single nucleotide polymorphisms (SNPs) of rs2298771 and rs3812718 of the sodium channel α-subunit type 1 (SCN1A) gene affect the efficacy of carbamazepine (CBZ) treatment for seizures in Chinese Han epileptic patients.
  
  
  METHODS
  SNP rs2298771 and rs3812718 of the SCN1A gene from 628 patients were genotyped. CBZ monotherapy was administered to the subjects with new-onset partial seizures. The efficacy was defined as the decrease in the number of seizures. Four semi-quantitative levels were used to assess the efficacy: seizure-free (SF), >75% seizure decrease (SD), 50%-75% SD, and <50% SD in the number of seizures compared with patients' initial conditions.
  
  
  RESULTS
  After the 12 month treatment with CBZ monotherapy, the rate of SF patients with G allele of the SNP rs2298771 was significantly lower than that in patients with the AA genotype (P=0.003). The heterozygote and homozygote of the G allele at SNP rs2298771 predicted the low SF rate (OR=2.101, 95% CI 1.289-3.425). Marginal significance was observed between the dichotomous efficacy of SF and non-SF in 3 partial seizure types (P=0.028).
  
  
  CONCLUSIONS
  rs2298771 is significantly associated with the efficacy of CBZ monotherapy in Chinese Han epileptic patients.
authors.affiliation: Department of Pharmacy, Xiangya Hospital, Central South University, Changsha 410008; School of Pharmaceutical Sciences, Central South University, Changsha 410013, China.
authors.forename: Ping
authors.initials: P
authors.lastname: Wang
authors.forename: Qiuhong
authors.initials: Q
authors.lastname: Zhou
authors.forename: Yanghao
authors.initials: Y
authors.lastname: Sheng
authors.forename: Beisha
authors.initials: B
authors.lastname: Tang
authors.forename: Zhaoqian
authors.initials: Z
authors.lastname: Liu
authors.forename: Boting
authors.initials: B
authors.lastname: Zhou
mesh_terms: D000483:Alleles; D044466:Asian People; D002220:Carbamazepine / Q000627:therapeutic use*; D004827:Epilepsy; D005838:Genotype; D006801:Humans; D062550:NAV1.1 Voltage-Gated Sodium Channel / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012640:Seizures / Q000188:drug therapy* / Q000235:genetics*
chemical_list: D062550:NAV1.1 Voltage-Gated Sodium Channel; C568242:SCN1A protein, human; D002220:Carbamazepine