GENE MUTATION ASSOCIATED WITH FEBRILE SEIZURE PLUS AND METHOD FOR DIAGNOSING FEBRILE SEIZURE PLUS

摘要

PROBLEM TO BE SOLVED: To provide new gene mutations associated with FS+ (febrile seizure plus) and to provide a method for diagnosing the FS+ utilizing the gene mutations.

SOLUTION: A polynucleotide has the mutation in which the 1499th g is substituted with in a specific base sequence of a gene associated with the FS+ and a polynucleotide has the mutation in which the 1079th c is substituted with a in another specific base sequence. Polypeptides have amino acid mutations produced by the nucleotide mutations. The method for diagnosing the FS+ is characterized by detecting the mutations.

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