PERFECT LENGTH SEQUENCE OF HUMAN LAFORA TYPE EPILEPSY- CAUSING GENE AND USE OF MUTATION THEREOF

摘要

PROBLEM TO BE SOLVED: To provide a DNA encoding the perfect length sequence of a human Lafora type epilepsy-causing gene, and to provide a method for detecting a human Lafora type epilepsy, based on a new mutation. SOLUTION: This DNA comprising a DNA encoding an amino acid sequence having a specific sequence or a human-originated mutant of the DNA. The method for detecting the Lafora type epilepsy, comprising detecting the DNA having a base sequence which has one or more substitutions selected from a substitution corresponding to the substitution of a thymine base at a specific position for a cytosine base, a substitution corresponding to the substitution of a cytosine base at a specific position different from the former for a thymine base, and a substitution corresponding to the substitution of a cytosine base at a specific position different from the two formers for a guanine base.