GENE MUTATION RELATED TO CONVULSIVE DISORDER AND METHOD FOR DIAGNOSING CONVULSIVE DISORDER

摘要

PROBLEM TO BE SOLVED: To provide a new gene mutation related to an unfavorable convulsive disorder existing in potassium channel J family (KCNJ) gene, and to provide a convulsive disorder diagnosis method using the gene mutation.

SOLUTION: KCNJ14 mutation related to severe myoclonic epilepcy in infancy, KCNJ10 mutation related to severe myoclonic epilepcy in infancy, KCNJ13 mutation related to benign familial neonatal convulsions, KCNJ13 mutation related to febrile seizure plus, and KCNJ16 mutation related to night frontal lobe epilepsy.

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