Brain somatic mutations associated to epilepsy and uses thereof

摘要

The present invention relates to brain somatic mutation which causes epilepsy regarding incurable epilepsy by the malformation of cortical development, and a use thereof. More specifically, the present invention relates to a mammalian target of rapamycin (mTOR) gene where mutation in a base sequence is occurred or mTOR protein where mutation in an amino acid sequence is occurred by the base sequence mutation. Also, the present invention relates to a diagnosis technology of incurable epilepsy by the malformation of cortical development using the gene or the protein. Additionally, the present invention relates to an inducing technology of incurable epilepsy by the malformation of cortical development using the gene or the protein.