| 简介 |
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. |
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