Novel mutation

Details Novel mutation Novel mutation

C - Chemistry, Metallurgy

12

N

C12N 15/12 (2006.01) A01K 67/027 (2006.01) A61K 31/7088 (2006.01) A61K 39/395 (2006.01) A61K 45/00 (2006.01) A61K 48/00 (2006.01) A61P 25/08 (2006.01) C07K 14/705 (2006.01) C07K 16/28 (2006.01) C12P 21/02 (2006.01) C12Q 1/00 (2006.01) C12Q 1/02 (2006.01) C12Q 1/68 (2006.01) G01N 33/53 (2006.01) G01N 33/566 (2006.01) A61K 38/00 (2006.01)

Patent

CA 2446838

An isolated nucleic acid molecule encoding a mutant mammalian beta-1 subunit of a voltage-gated sodium channel wherein a mutation event has occurred and said mutation event disrupts the functioning of an assembled sodium channel so as to produce an epilepsy phenotype, with the proviso that said mutation event is not one which results in a C121W substitution in the encoded polypeptide.

L'invention concerne une molécule d'acide nucléique isolée codant pour une sous-unité bêta-1 mammifère mutante d'un canal sodique potentiel-dépendant dans lequel un évènement de mutation s'est produit. Ledit évènement de mutation interrompt le fonctionnement d'un canal sodique assemblé de manière à obtenir un phénotype épileptique, à condition que ledit évènement de mutation n'ait pas pour conséquence une substitution C121W dans le polypeptide codé.

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