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METHOD FOR DETECTING INTRACTABLE EPILEPSY ACCOMPANYING SEVERE INTELLECTUAL DISABILITY AND MOTOR DEVELOPMENT RETARDATION

Foreign code F150008286
Posted date 2015年4月3日
Country 世界知的所有権機関(WIPO)
International application number 2014JP065217
International publication number WO 2014199944
Date of international filing 平成26年6月9日(2014.6.9)
Date of international publication 平成26年12月18日(2014.12.18)
Priority data
  • 特願2013-123660 (2013.6.12) JP
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.
Outline of related art and contending technology BACKGROUND ART
Epileptic encephalopathy is, tend to deteriorate or caused by epilepsy of sexual activity, severe progressive cognitive impairment and behavioral disorders and neurological disease (non-patent document 1). (OS, MIM 308350 and 612164) is otawara syndrome, most with the least severe epileptic encephalopathy and appears early, mainly found in neonatal cramping and ankylosing spondylitis, refractory convulsive seizures, suppression burst pattern of electroencephalography (EEG) and (non-patent document 2).
3 Far ARX (MIM 300382), STXBP1 (MIM 602926), OS and KCNQ2 patients (MIM 602235) one cause of the gene in the de novo mutations have been reported (non-patent document 3-6). However, severe intellectual impairment including OS and motor development and refractory epilepsy is critical operations, have been reported so far the mutation in the gene responsible for the cause of many cases left could not be accounted for.
  • Applicant
  • ※All designated countries except for US in the data before July 2012
  • PUBLIC UNIVERSITY CORPORATION YOKOHAMA CITY UNIVERSITY
  • Inventor
  • MATSUMOTO, Naomichi
  • SAITSU, Hirotomo
IPC(International Patent Classification)
Specified countries National States: AE AG AL AM AO AT AU AZ BA BB BG BH BN BR BW BY BZ CA CH CL CN CO CR CU CZ DE DK DM DO DZ EC EE EG ES FI GB GD GE GH GM GT HN HR HU ID IL IN IR IS JP KE KG KN KP KR KZ LA LC LK LR LS LT LU LY MA MD ME MG MK MN MW MX MY MZ NA NG NI NO NZ OM PA PE PG PH PL PT QA RO RS RU RW SA SC SD SE SG SK SL SM ST SV SY TH TJ TM TN TR TT TZ UA UG US UZ VC VN ZA ZM ZW
ARIPO: BW GH GM KE LR LS MW MZ NA RW SD SL SZ TZ UG ZM ZW
EAPO: AM AZ BY KG KZ RU TJ TM
EPO: AL AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LT LU LV MC MK MT NL NO PL PT RO RS SE SI SK SM TR
OAPI: BF BJ CF CG CI CM GA GN GQ GW KM ML MR NE SN TD TG
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