Patent ID: 8916743

Claim:
A model animal of Dravet syndrome, having a mutation on both α-subunit type 1 of voltage-gated sodium ion channel Na V 1.1 (Nav1.1α1) and α-subunit type 1 of voltage-gated calcium ion channel Ca V 2.1 (Cav2.1α1), wherein the mutation on the Nav1.1α1 is selected from the group consisting of A1685D, F902C, deletion of Exon 10, G163E, G177R, K547fsX570, P707fsX714, Q1277X, Q1450R, R1648C, R377L, R712X, R865X, S1574X, T1082fsX1086, T1909I, V1390M, V212A, and W738fsX746, and the mutation on the Cav2.1α1 is selected from the group consisting of A924G, E921D, E996V, G1108S, G266S, K472R, R1126H and R2201Q, wherein in the case that the mutation on the Nav1.1α1 is G177R, the mutation on the Cav2.1α1 is G266S, in the case that the mutation on the Nav1.1α1 is W738fsX746, the mutation on the Cav2.1α1 is K472R, in the case that the mutation on the Nav1.1α1 is V1390M, the mutation on the Cav2.1α1 is A924G, in the case that the mutation on the Nav1.1α1 is selected from the group consisting of A1685D, F902C, deletion of Exon 10, P707fsX714, Q1277X, Q1450R, R377L, R865X, T1082fsX1086 and V212A, the mutation on the Cav2.1α1 is at least one of E921D and E996V, in the case that the mutation on the Nav1.1α1 is T1909I, the mutation of Cav2.1α1 is at least one of E921D, E996V, R1126H and R2201Q, in the case that the mutation on the Nav1.1α1 is selected from the group consisting of G163E, K547fsX570 and S1574X, the mutation on the Cav2.1α1 is at least one of R1126H and R2201Q, and in the case that the mutation on the Nav1.1α1 is selected from the group consisting of R712X and R1648C, the mutation on the Cav2.1α1 is G1108S.