GENETIC MUTATION ASSOCIATED WITH BENIGN FAMILIAL NEONATAL CONVULSION AND METHOD FOR DIAGNOSING BENIGN FAMILIAL NEONATAL CONVULSION

摘要

PROBLEM TO BE SOLVED: To obtain a new genetic mutation associated with a benign familial neonatal convulsion (BFCN) existing in a KCNQ2 gene and to provide a method for diagnosing BFCN using the genetic mutation.;SOLUTION: The polynucleotide contains at least one of nucleotide mutations of (a) ttc at 910-912 positions are deleted and (b) c at 967 position is replaced with t in a specific animal-derived DNA sequence. The polypeptide has an amino acid mutation caused by the nucleotide mutation. The method for diagnosing a benign familial neonatal convulsion comprises detecting the mutation.;COPYRIGHT: (C)2005,JPO&NCIPI