Method for assessment of potential for development of dravet syndrome and use thereof

Abstract

Provided is a method of assessing a potential for development of Dravet syndrome with high accuracy, and use thereof. The method according to the present invention of assessing a potential for development of Dravet syndrome includes, with use of a sample taken from a subject, detecting whether or not a mutation is on α-subunit type 1 of voltage-gated sodium ion channel Na V 1.1, and detecting whether or not a mutation is on α-subunit type 1 of voltage-gated calcium ion channel Ca V 2.1.

1 . A method of obtaining data for assessing potential for development of Dravet syndrome, the method comprising:
 with use of a sample taken from a subject,
 detecting whether or not a mutation exists on α-subunit type 1 of voltage-gated sodium ion channel Na V 1.1; and 
 detecting whether or not a mutation is on α-subunit type 1 of voltage-gated calcium ion channel Ca V 2.1. 
   
     
     
         2 . The method according to  claim 1 , wherein
 the mutation on the α-subunit type 1 of the voltage-gated sodium ion channel Na V 1.1 is at least one of mutations recited in Table 1, and   the mutation on the α-subunit type 1 of the voltage-gated calcium ion channel Ca V 2.1 is at least one of mutations recited in Table 2.   
     
     
         3 . The method according to  claim 1 , further comprising:
 detecting a change in activity of the voltage-gated sodium ion channel Na V 1.1; and   detecting a change in activity of the voltage-gated calcium ion channel Ca V 2.1.   
     
     
         4 . A kit for assessing a potential for development of Dravet syndrome, the kit comprising:
 a polynucleotide being used for determining a mutation on α-subunit type 1 of voltage-gated sodium ion channel Na V 1.1; and   a polynucleotide being used for determining a mutation on α-subunit type 1 of voltage-gated calcium ion channel Ca V 2.1.   
     
     
         5 . 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 and α-subunit type 1 of voltage-gated calcium ion channel Ca V 2.1. 
     
     
         6 . A method of producing a model animal of Dravet syndrome as set forth in  claim 5 , the method comprising:
 introducing a mutation on a α-subunit type 1 of the voltage-gated sodium ion channel Na V 1.1; and   introducing a mutation on a α-subunit type 1 of the voltage-gated calcium ion channel Ca V 2.1.   
     
     
         7 . A cell, having a mutation on both α-subunit type 1 of voltage-gated sodium ion channel Na V 1.1 and α-subunit type 1 of voltage-gated calcium ion channel Ca V 2.1. 
     
     
         8 . A method of producing a cell as set forth in  claim 7 , the method comprising:
 introducing a mutation on a α-subunit type 1 of the voltage-gated sodium ion channel Na V 1.1; and   introducing a mutation on a α-subunit type 1 of the voltage-gated calcium ion channel Ca V 2.1.   
     
     
         9 . A screening method of a drug for treating Dravet syndrome, the method comprising:
 administering a candidate agent to the model animal of Dravet syndrome as set forth in  claim 5 ; and   assessing whether or not the administering of the candidate agent has made Dravet syndrome improve or cure in the model animal of Dravet syndrome.   
     
     
         10 . A screening method of a drug for treating Dravet syndrome, the method comprising:
 administering a candidate agent to the cell as set forth in  claim 7 ; and   assessing whether or not the administering of the candidate agent has made activity of the voltage-gated sodium ion channel Na V 1.1 and/or activity of the voltage-gated calcium ion channel Ca V 2.1 change in the cell.   
     
     
         11 . The method according to  claim 2 , further comprising:
 detecting a change in activity of the voltage-gated sodium ion channel Na V 1.1; and   detecting a change in activity of the voltage-gated calcium ion channel Ca V 2.1.