SCN2A基因rs17183814多态位点与癫痫伴热性惊厥附加症的相关性

目的：研究SCN2A基因rs17183814多态位点（R19K）在癫痫伴热性惊厥附加症（epilepsy with febrile seizures plus，EFS＋）患者中的分布并初步探讨R19K与抗癫痫药物反应性的关系。方法：收集广州医学院第二附属医院神经科学研究所35例EFS＋患者为实验组，正常人101例为对照组。收集血样，应用变性高效液相色谱（denaturing high performance liquid chromatography，DHPLC）技术对SCN2A基因的第2编码外显子及与mRNA剪接有关的内含子进行筛查，对发现异常洗脱峰者进行测序并分析结果。结果：实验组的基因型频率和等位基因频率与正常对照组比较，差异无统计学意义（P〉0．05）；实验组中难治性癫痫患者的基因型频率与非难治性癫痫患者相比，差异无统计学意义（P〉0．05）。结论：SCN2A基因rs17183814多态位点与EFS＋无相关性，与抗癫痫药物反应性也无相关性。

Association between the rs17183814 polymorphism in SCN2A gene and epilepsy with febrile seizures plus

Objective：To determine the frequency of polymorphism site rs17183814 of SCN2A gene in patients with epilepsy with febrile seizures plus （ EFS ＋ ） and explore the association of this polymorphism with antiepileptic drug treatment. Methods： After collecting blood samples, we screened the second exon of SCN2A gene with denaturing high performance liquid chromatography （DHPLC） technology and then sequence analysis was performed on those with abnormal elution peaks. Results： For this polymorphism, there was no significant difference in both genotype frequency and allele frequency between the two groups. Also there was no significant difference between uncontrolled epilepsy and well-controlled epilepsy （P 〉 0.05）. Conclusion： There is no association between the locus of rs17183814 in the SCN2A gene and Chinese patients with EFS ＋. Also this polymorphism was not associated with uncontrolled epilepsy.