Mutant sodium channel Nav1.7 and methods related thereto

摘要

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 Nav1.7 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.

主权项

1. An expression vector comprising an isolated nucleic acid that encodes an amino acid comprising the sequence set forth in any of SEQ ID NOs: 79, 80, 81, 82, 83, 84, or 85 operably linked to an expression control sequence, wherein the isolated nucleic acid is heterologous to the expression vector.