Polymorphism of multidrug-resistance gene in childhood refractory epilepsy
10.3969/j.issn.1000-3606.2009.11.004
- VernacularTitle:儿童难治性癫(癎)MDR1基因多态性研究
- Author:
Xuan GAO
;
Shuizhen ZHOU
;
Qian GUO
;
Daokai SUN
- Publication Type:Journal Article
- Keywords:
children;
refractory epilepsy;
muhidrug-resistance gene;
single nucleotide polymophisms
- From:
Journal of Clinical Pediatrics
2009;(11):1014-1018
- CountryChina
- Language:Chinese
-
Abstract:
Objective To discuss the diagnosis of refractory epilepsy (RE) in children, and to study the association of the single nucleotide polymorphisms (SNPs) of muhidrug-resistance gene (MDR1) C3435T with pharmaco- resistant epilepsy. Methods Four hundred children with epilepsy were retrospectively or prospectively identified from multiple sources in our hospital in Shanghai and were followed-up for the occurrence of refractory epilepsy. The clinical features of RE regarding age at onset, gender, seizure type, electroencephalogram, neuroimaging, development of central nervous system, etiology and prognosis etcetera were investigated. DNA samples were obtained from 132 patients with epilepsy (70 RE and 62 responsive epilepsy) and 62 health children by DNA extraction kit. Genotype of the C3435T polymorphism was determined by DNA sequence analysis after traditional polymerase chain reaction. The frequency of genotypes and alleles among the three groups was compared by Chi-square test. Results Eighty-three (20.8%) out of total 400 patients were RE. Among them 65 (78.3%) patients failed at least 2 drugs in six months. Forty-two (50.6%) were administered at least 3 drugs on the last follow-up. Medical treatment showed remarkable effective in 6 (7.2%) RE patients, effective in 40 RE patients (48.2%). No effectiveness was seen in another 37 (44.6%) RE patients, however 25 out of 37 presented symptomatic alleviation. Significant difference in genotype (CC, CT, Tr) frequency was neither found between RE and responsive epilepsy patients nor between RE patients and healthy controls. No association between the C3435T polymorphism in the human MDR1 gene and refractory epilepsy was found by logistic analysis. Conclusions Refractory epilepsy could be diagnosed in 6 months after being treated with anti-epilepsy drugs (AEDs) in children with average attack once per month at least and failed more than 2 AEDs. Multiple AEDs were necessary for treatment. No association between the C3435T polymorphism in the human MDR1 gene and refractory epilepsy was found by logistic analysis in this study.
