Sodium-channel alpha1-subunit and their polypeptides and...

Details Sodium-channel alpha1-subunit and their polypeptides and... Sodium-channel alpha1-subunit and their polypeptides and...

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A01K 67/027 (2006.01) A61K 31/7105 (2006.01) A61K 38/17 (2006.01) A61K 39/395 (2006.01) A61K 48/00 (2006.01) A61P 25/08 (2006.01) C07K 14/705 (2006.01) C07K 16/28 (2006.01) C12Q 1/68 (2006.01) A61K 38/00 (2006.01)

Patent

CA 2431891

The mutations D188V, V1353L, I1656M in the neuronal gene sodium-channel alpha1- subunit, SCN1A, are disclosed. The methods of using their associated polypeptides for treating sodium channel dysfunction disorders including generalised epilepsy are also disclosed.

L'invention concerne les mutations D188V, V1353L, I1656M de la sous-unit~ alpha1 du canal sodique du g­ne neuronal, SCN1A. L'invention concerne ~galement des proc~d~s d'utilisation de polypeptides associ~s, dans le traitement de dysfonctionnements des canaux sodiques, et notamment de l'~pilepsie g~n~ralis~e.

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