Brain somatic mutations associated to epilepsy and uses thereof

摘要

The present invention relates to a cerebral somatic genetic variation causing cerebral apoplexy and its use in relation to intractable cerebral apoplexy due to cerebral cortical development abnormality. More specifically, the present invention relates to a mTOR protein (mTOR) in which the mutation of the base sequence occurs, or the mTOR protein in which the mutation of the amino acid sequence occurs due to the mutation of the base sequence. In addition, the present invention relates to a diagnostic technique of intractable cerebral apoplexy due to cerebral cortical development malformation using the gene or protein. In addition, the present invention relates to a technique for inducing intractable cerebral infarction by cerebral cortical development malformation using a gene or protein.