Patent ID: 7214483
Filing Date: 2007-05-08
Classification: A01K,A61P,C07K,C12Q

Abstract:
1. A method for diagnosing the presence of a mutation in human KCNQ2 which causes BFNC or rolandic epilepsy wherein said method is performed by means which identify the presence of said mutation, and wherein said mutation is the presence of a G at nucleotide number 978 of SEQ ID NO:1, an A at nucleotide number 1043 of SEQ ID NO:1, a T at nucleotide number 1094 of SEQ ID NO:1, an A at nucleotide number 1125 of SEQ ID NO:1, a T at nucleotide 1469 of SEQ ID NO:1, an insertion of two nucleotides between nucleotides 975 and 976 of SEQ ID NO:1, an insertion of 5 nucleotides after nucleotide 2736 of SEQ ID NO:1, a deletion of 13 nucleotides consisting of nucleotides 1691–1703 of SEQ ID NO:1, an A rather than a G at the 3′ end of the intron which interrupts codon 544 of SEQ ID NO:2, a mutation resulting in a stop codon at or before codon 319 of SEQ ID NO:2, a mutation resulting in a stop codon at or before codon 524 of SEQ ID NO:2, a mutation resulting in a stop codon at or before codon 323 of SEQ ID NO:2, or a mutation resulting in a stop codon at or before codon 448 of SEQ ID NO:2.