Patent Document ID: 9629346
Application ID: 14541252
Patent Flag: 1

Claim One:
1. A transgenic non-human mammalian animal model of intractable epilepsy, wherein the animal model was made to express a mutant human mTOR protein as a result of the introduction of a mutant human mTOR gene into the developing brain of an embryo during the period of cerebral cortex formation, wherein the mutant mTOR protein includes the amino acid sequence of SEQ ID NO. 2 with 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 of the amino acid sequence, wherein the expression of the mutant human mTOR gene resulted in malformation of the cerebral cortex, altered migration, number and size of cortical neurons and spontaneous seizures.