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1. (WO2014199944) METHOD FOR DETECTING INTRACTABLE EPILEPSY ACCOMPANYING SEVERE INTELLECTUAL DISABILITY AND MOTOR DEVELOPMENT RETARDATION

Pub. No.:    WO/2014/199944    International Application No.:    PCT/JP2014/065217
Publication Date: Fri Dec 19 00:59:59 CET 2014 International Filing Date: Tue Jun 10 01:59:59 CEST 2014
IPC: C12Q 1/68
G01N 33/15
G01N 33/50
C12N 15/09
Applicants: PUBLIC UNIVERSITY CORPORATION YOKOHAMA CITY UNIVERSITY
公立大学法人横浜市立大学
Inventors: MATSUMOTO, Naomichi
松本 直通
SAITSU, Hirotomo
才津 浩智
Title: METHOD FOR DETECTING INTRACTABLE EPILEPSY ACCOMPANYING SEVERE INTELLECTUAL DISABILITY AND MOTOR DEVELOPMENT RETARDATION
Abstract:
In the present invention, intractable epilepsy accompanying severe intellectual disability and motor development retardation is detected by using a sample removed from a living organism to examine whether a mutation in gene GNAO1 is present in the living organism. Intractable epilepsy is detected in cases when a harmful mutation in at least one allele of gene GNAO1 is detected. In epilepsy cases where GNAO1 mutations are present, there are cases affiliated with involuntary movement, a symptom rare in ordinary epileptic encephalopathy, and thus the likelihood of involuntary movement can also be predicted using gene GNAO1 mutation as an index.