GENE MUTATION ASSOCIATED WITH SEVERE MYOCLONIC EPILEPSY IN INFANCY AND METHOD FOR DIAGNOSING SEVERE MYOCLONIC EPILEPSY IN INFANCY

摘要

PROBLEM TO BE SOLVED: To provide a new gene mutation associated with SMEI (severe myoclonic epilepsy in infancy) present in a GABRG2 äGABAA(γ-aminobutyric acid A) receptor γ2 unit} gene and to provide a method for diagnosing the SMEI utilizing the gene mutation.

SOLUTION: A polynucleotide has the mutation in which the 118th c is substituted with t in a specific base sequence associated with the SMEI and a short-chain polypeptide is produced by the nucleotide mutation. The method for diagnosing the SMEI is characterized by detecting the mutation.

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