Mutations in neuronal gene sodium-channel alpha1-subunit and...

Details Mutations in neuronal gene sodium-channel alpha1-subunit and... Mutations in neuronal gene sodium-channel alpha1-subunit and...

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A01K 67/027 (2006.01) A61K 31/7105 (2006.01) A61K 31/711 (2006.01) A61K 38/17 (2006.01) A61K 39/395 (2006.01) C07K 14/705 (2006.01) C07K 16/28 (2006.01) C12Q 1/00 (2006.01) C12Q 1/68 (2006.01) G01N 33/50 (2006.01) G01N 33/53 (2006.01) G01N 33/68 (2006.01)

Patent

CA 2714357

The mutations D188V, V1353L, I1656M in the neuronal gene sodium-channel alphal-subunit, SCN1A, are disclosed. The methods of using their associated polypeptides for treating sodium channel dysfunction disorders including generalised epilepsy are also disclosed.

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