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

外国特許コード F150008286
掲載日 2015年4月3日
出願国 世界知的所有権機関(WIPO)
国際出願番号 2014JP065217
国際公開番号 WO 2014199944
国際出願日 平成26年6月9日(2014.6.9)
国際公開日 平成26年12月18日(2014.12.18)
優先権データ
  • 特願2013-123660 (2013.6.12) JP
発明の名称 (英語) METHOD FOR DETECTING INTRACTABLE EPILEPSY ACCOMPANYING SEVERE INTELLECTUAL DISABILITY AND MOTOR DEVELOPMENT RETARDATION
発明の概要(英語) 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.
従来技術、競合技術の概要(英語) 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.
  • 出願人(英語)
  • ※2012年7月以前掲載分については米国以外のすべての指定国
  • PUBLIC UNIVERSITY CORPORATION YOKOHAMA CITY UNIVERSITY
  • 発明者(英語)
  • MATSUMOTO, Naomichi
  • SAITSU, Hirotomo
国際特許分類(IPC)
指定国 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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