Mutant sodium channel nav1.7 and methods related thereto

Details Mutant sodium channel nav1.7 and methods related thereto Mutant sodium channel nav1.7 and methods related thereto

C - Chemistry, Metallurgy

07

K

C07K 14/00 (2006.01) C12N 5/10 (2006.01) C12N 15/00 (2006.01) C12N 15/11 (2006.01) C12N 15/63 (2006.01) C12Q 1/68 (2006.01)

Patent

CA 2553745

Described are mutant Nav1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Navl sodium channel alpha-subunit, methods for determining a Nav1.7 haplotype, methods for determining a subject~s predisposition to a neurologic disorder associated with a sodium channel mutation, and methods of identifying a compound that modulates mutant Nav1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Nav1.7 sodium channels are also described herein.

La présente invention concerne des sous-unités alpha de canal sodique Na¿v?1.7 mutantes et des séquences d'acides nucléiques qui codent de tels mutantes. La présente invention concerne également des procédés pour caractériser une séquence d'acides nucléiques qui code une sous-unité alpha de canal sodique Na¿v?1, des procédés pour déterminer un haplotype Na¿v?1.7, des procédés pour déterminer la prédisposition d'un sujet à un trouble neurologique associé à une mutation de canal sodique, ainsi que des procédés pour identifier un composé qui module des canaux sodiques Na¿v?1.7 mutants. En outre, cette invention concerne d'autres matières, compositions, articles, dispositifs et procédés associés à des canaux sodiques Na¿v?1.7 mutants.

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