A method for detecting refractory epilepsy with severe intellectual disability and motor developmental delay

摘要

In the present invention, refractory epilepsy accompanied by severe intellectual disability and motor development delay is detected by examining whether the target living body has a mutation in the GNAO1 gene using a sample separated from the living body. The intractable epilepsy is detected when a deleterious mutation is detected in at least one allele of the GNAO1 gene. Some epilepsy cases with GNAO1 mutations are associated with involuntary movements, a rare symptom of normal epileptic encephalopathy. It is.