首页> 外国专利> THE METHOD OF DETECTING THE CACNA1H MUTANT GENE OF CHILDHOOD ABSENCE EPILEPSY-THE MAIN FUNCTION GENE, AND THE CACNA1H MUTANT GENE

THE METHOD OF DETECTING THE CACNA1H MUTANT GENE OF CHILDHOOD ABSENCE EPILEPSY-THE MAIN FUNCTION GENE, AND THE CACNA1H MUTANT GENE

机译:检测儿童缺席性癫痫的CACNA1H突变基因-主要功能基因的方法和CACNA1H突变基因

摘要

The present invention relates to a method of detecting the CACNA1H mutant gene of childhood absence epilepsy-the main function gene, the said method is directly sequencing or restriction analysis. The present invention relates to CACNA1H mutant gene. The present invention further relates to the use of the said detection and mutant gene. The present invention connects the CACNA1H gene with medicine for treating childhood absence epilepsy, proving new target site for medicine for treating the same. The present invention establishes the foundation for developing new medicines for treating childhood absence epilepsy and other type of idiopathic system epilepsy as well as other system diseases associated with CACNA1H gene.
机译:一种检测儿童失神癫痫的CACNA1H突变基因的主要功能基因的方法,该方法为直接测序或限制性酶切分析。本发明涉及CACNA1H突变基因。本发明进一步涉及所述检测和突变基因的用途。本发明将CACNA1H基因与治疗儿童失神癫痫的药物连接起来,为治疗该疾病的药物提供了新的靶位。本发明为开发治疗儿童失神癫痫和其他类型的特发性系统癫痫以及与CACNA1H基因相关的其他系统疾病的新药物奠定了基础。

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