首页> 外国专利> METHOD FOR DETECTING INTRACTABLE EPILEPSY ACCOMPANYING SEVERE INTELLECTUAL DISABILITY AND MOTOR DEVELOPMENT RETARDATION

METHOD FOR DETECTING INTRACTABLE EPILEPSY ACCOMPANYING SEVERE INTELLECTUAL DISABILITY AND MOTOR DEVELOPMENT RETARDATION

机译:伴有严重智力障碍和运动发育迟缓的难治性癫痫的检测方法

摘要

In the present invention, intractable epilepsy accompanying severe intellectual disability and motor development retardation is detected by using a sample removed from a living organism to examine whether a mutation in gene GNAO1 is present in the living organism. Intractable epilepsy is detected in cases when a harmful mutation in at least one allele of gene GNAO1 is detected. In epilepsy cases where GNAO1 mutations are present, there are cases affiliated with involuntary movement, a symptom rare in ordinary epileptic encephalopathy, and thus the likelihood of involuntary movement can also be predicted using gene GNAO1 mutation as an index.
机译:在本发明中,通过使用从活生物体中取出的样品检查活生物体中是否存在基因GNAO1的突变,来检测伴随严重智力障碍和运动发育迟缓的顽固性癫痫。如果在至少一个基因GNAO1等位基因中检测到有害突变,则会检测到顽固性癫痫。在存在GNAO1突变的癫痫病例中,存在与非自主运动有关的病例,这是普通癫痫性脑病中罕见的症状,因此也可以使用基因GNAO1突变作为指标来预测非自主运动的可能性。

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