C - Chemistry – Metallurgy – 12 – Q
Patent
C - Chemistry, Metallurgy
12
Q
C12Q 1/68 (2006.01)
Patent
CA 2514443
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.
La présente invention concerne une méthode de détection du gène mutant CACNA1H de l'absence épileptique infantile, le gène de fonction principale, ladite méthode impliquant le séquençage direct ou l'analyse de restriction. L'invention se rapporte également au gène mutant CACNA1H, à l'utilisation de ladite détection et dudit gène mutant. Cette invention applique le gène CACNA1H à la médecine pour traiter l'absence épileptique infantile, au moyen d'un nouveau site cible pour traiter médicalement cette maladie. Cette invention établit les bases pour mettre au point de nouveaux médicaments permettant de traiter l'absence épileptique infantile et d'autres types d'épilepsie idiopathique ainsi que d'autres maladies associées au gène CACNA1H.
Chen Yucai
Jiang Yuwu
Liu Xiaoyan
Lv Jianjun
Pan Hong
Bereskin & Parr Llp/s.e.n.c.r.l.,s.r.l.
Sinogenomax Company Ltd.
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