Patent ID: 7655460

Claim:
A purified human alpha subunit of an SCN1A sodium channel nucleic acid selected from the group consisting of: (a) a nucleic acid comprising a sequence encoding an alpha subunit of SCN1A selected from the group consisting of: (i) an alpha subunit of SCN1A as set forth in SEQ ID NO:3, comprising a mutation corresponding to amino acid position 188 which replaces an aspartic acid residue by a valine residue; (ii) an alpha subunit of SCN1A as set forth in SEQ ID NO:3, comprising a mutation corresponding to amino acid position 1238 which replaces a glutamic acid residue by an aspartic acid residue; (iii) an alpha subunit of SCN1A as set forth in SEQ ID NO:3, comprising a mutation corresponding to amino acid position 1773 which replaces a serine residue by a tyrosine residue; and (iv) an alpha subunit of SCN1A being at least 95% identical to the SCN1A alpha subunits in (i)-(iii) and comprising one of the mutations at amino acid position 188, 1238 or 1773; (b) an SCN1A nucleic acid fragment selected from the group consisting of: (v) an amplified segment consisting of the nucleic acid sequence from nucleotide 739 to 867 of SEQ ID NO: 1, (vi) an amplified segment comprising the nucleic acid sequence from nucleotide 739 to 867 of SEQ ID NO: 1 having a mutation at nucleotide 828, (vii) an amplified segment consisting of the nucleic acid sequence from nucleotide 3970 to 4143 of SEQ ID NO: 1, (viii) an amplified segment comprising the nucleic acid sequence from nucleotide 3970 to 4143 of SEQ ID NO: 1 having a mutation at position 3978, (ix) an amplified segment consisting of the nucleic acid sequence from nucleotide 5521 to 5747 of SEQ ID NO: 1, and (x) an amplified segment comprising the nucleic acid sequence from nucleotide 5521 to 5747 of SEQ ID NO: 1 having a mutation at position 5582; and (c) a full-length complement of (a) or (b).