Patent ID: 7951931
Filing Date: 2011-05-31
Classification: A61P,C12Q

Abstract:
1. A purified nucleic acid molecule variant of the human SCN3A sodium channel, wherein said nucleic acid molecule comprises a nucleic acid sequence selected from the group consisting of: (a) the nucleic acid sequence of SEQ ID NO: 410, which encodes a variant of an alpha subunit of SCN3A and comprises a deletion mutation which deletes an asparagine at position 43 of the corresponding wild-type human SCN3A sequence as set forth in SEQ ID NO: 67; (b) a nucleic acid encoding an alpha subunit of SCN3A, wherein the encoded protein comprises an amino acid sequence that differs from SEQ ID NO:67 only by deletion of the asparagine at position 43 thereof; (c) the nucleic acid sequence of SEQ ID NO: 411, which encodes a variant of an alpha subunit of SCN3A and comprises a guanine to adenine mutation that translates into an isoleucine instead of a valine at position 1035 (Va11035lle) of the corresponding wild-type human SCN3A sequence as set forth in SEQ ID NO: 67; (d) a nucleic acid encoding an alpha subunit of SCN3A, wherein the encoded protein comprises an amino acid sequence that differs from SEQ ID NO:67 only in that an isoleucine is substituted for valine at position 1035 thereof; (e) a full length complement of any one of (a)-(d); (f) a nucleic acid sequence encoding a variant SCN3A alpha subunit, which hybridizes under high stringency conditions to the nucleic acid sequence of (e), wherein said high stringency conditions comprise a hybridization at 65° C. in 5×SSC, 5×Denhardt's solution, 1% SDS, and 100 μg/mL denatured salmon sperm DNA, wherein said nucleic acid sequence comprises a nucleic acid sequence selected from at least one of: (g) a full length complement of (f).