Brain somatic mutations associated to epilepsy and uses thereof

摘要

The present invention relates to epilepsy-inducing brain somatic mutations which are associated with intractable epilepsy caused by malformations of cortical development, and uses thereof. More particularly, the present invention relates to an mTOR (Mammalian target of rapamycin) gene having mutations in a nucleotide sequence or an mTOR protein having mutations in an amino acid sequence resulting from the mutations in the nucleotide sequence. Further, the present invention relates to a technique for diagnosing intractable epilepsy caused by malformations of cortical development using the gene or the protein.

主权项

1. An isolated protein consisting of an amino acid sequence which comprises one or more mutations selected from the group consisting of
substitution of tyrosine (Y) for cysteine (C) at position 1483, substitution of arginine (R) for cysteine (C) at position 1483, substitution of lysine (K) for glutamic acid (E) at position 2419, substitution of glycine (G) for glutamic acid (E) at position 2419, substitution of proline (P) for leucine (L) at position 2427, and substitution of glutamine (Q) for leucine (L) at position 2427 in an amino acid sequence of SEQ ID NO. 2.