公开(公告)号：US20140315737A1

公开(公告)日：2014-10-23

申请号：US14256309

申请日：2014-04-18

Applicant: UCB PHARMA, S.A.

Inventor： CARLOS CARA TERRIBAS ,  JUAN RAMON GONZALEZ RUIZ ,  ANTONIO MARTINEZ MARTINEZ ,  ESTIBALIZ OLANO MARTIN ,  LAUREANO SIMON BUELA

IPC: C12Q1/68

CPC classification number: C12Q1/6883 ,  C12Q2600/106 ,  C12Q2600/156

Abstract: The present invention relates to a group of epilepsy biomarkers comprising (i) SNP rs2740574; (ii) SNP rs1799735; (iii) SNP rs1695; (iv) SNP rs6280; and the locus of the human glutathione S-transferase theta-1 (GSTT1) gene. The invention particularly relates to this group of biomarkers as marker for protection against drug-resistant epilepsy. The group of biomarkers may additionally comprise at least one clinical marker selected from the group comprising (i) a focal seizure with secondary generalization; (ii) age at confirmed diagnosis of epilepsy; (iii) atrophy of hippocampus or medial temporal sclerosis; and (iv) the presence of a brain tumor. The present invention further relates to a method for detecting protection against drug-resistant epilepsy in a subject, a method for monitoring epilepsy therapy, a method of identifying an individual as eligible for an aggressive epilepsy therapy, a composition for detecting protection against drug-resistant epilepsy in a subject, a corresponding kit and a microarray for the analysis of protection against drug-resistant epilepsy.

Abstract translation: 本发明涉及一组癫痫生物标志物，其包含（i）SNP rs2740574; （ii）SNP rs1799735; （iii）SNP rs1695; （iv）SNP rs6280; 和人谷胱甘肽S-转移酶θ-1（GSTT1）基因的位点。 本发明特别涉及这组生物标志物作为防止耐药性癫痫的标记物。 该组生物标志物可以另外包含至少一种选自以下的临床标志物：（i）具有次级泛化的局灶性发作; （ii）确诊癫痫的年龄; （iii）海马萎缩或内侧颞硬化; 和（iv）脑肿瘤的存在。 本发明还涉及用于检测受试者耐药性癫痫的保护方法，用于监测癫痫治疗的方法，鉴定个体是否符合侵略性癫痫治疗的方法，用于检测耐药性的组合物 受试者中的癫痫，相应的试剂盒和用于分析耐药性癫痫的保护的微阵列。