Patent ID: 8129142
Filing Date: 2012-03-06
Classification: A61P,C07K,C12Q

Abstract:
1. An isolated nucleic acid molecule encoding a mutant or variant sodium channel, voltage gated, type 1, alpha subunit (SCN1A) polypeptide, wherein the nucleic acid comprises a sequence selected from the group consisting of: A) SEQ ID NO:2, which carries a c. 1152G→A mutation, B) SEQ ID NO:3, which carries a c. 1183G→C mutation, C) SEQ ID NO:4, which carries a c. 1207T→C mutation, D) SEQ ID NO:5, which carries a c. 1237T→A mutation, and E) SEQ ID NO:6, which carries a c. 1265T→A mutation, the nucleotide positions being numbered according to SEQ ID NO:96.