MUTATION OF SCN2A GENE IN INTRACTABLE CHILDHOOD EPILEPSY ACCOMPANIED BY INVOLUTION OF CRITICAL MENTAL FACULTY

摘要

PROBLEM TO BE SOLVED: To provide a method for detecting disease mutations (e.g. missense mutation, nonsense mutation, frame site mutation and splicing site mutation) of SCN2A in intractable childhood epilepsy accompanied by involution of critical mental faculties.

SOLUTION: The present inventors found a nonsense mutation [monobasic mutation (c.304C→T)] producing R102X in a SCN2A gene of one patient of intractable symptomatic localization-related epilepsy accompanied by secondary generalized convulsive seizure among 77 patients diagnosed as severe myoclonic epilepsy of infancy (SMEI) or atypical SMEI. The present invention relates to SCN2A gene having disease mutation (e.g. missense mutation, nonsense mutation, frame shift mutation and splicing site mutation) and a primer and a probe for amplifying the gene. The invention further provides a method for detecting a mutation using the primer and the probe.

COPYRIGHT: (C)2005,JPO&NCIPI