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METHOD FOR DETECTING INTRACTABLE EPILEPSY DEVELOPED IN NEONATAL PERIOD AND INFANCY

外国特許コード F110006000
整理番号 S2008-0088
掲載日 2011年12月27日
出願国 世界知的所有権機関(WIPO)
国際出願番号 2008JP073164
国際公開番号 WO 2009084472
国際出願日 平成20年12月19日(2008.12.19)
国際公開日 平成21年7月9日(2009.7.9)
優先権データ
  • 特願2007-340147 (2007.12.28) JP
発明の名称 (英語) METHOD FOR DETECTING INTRACTABLE EPILEPSY DEVELOPED IN NEONATAL PERIOD AND INFANCY
発明の概要(英語) Disclosed is a novel method for detecting intractable epilepsy developed in the neonatal period and infancy. The method of the invention is performed for a sample separated from the living body and uses whether or not syntaxin-binding protein 1 (STXBP1) gene is deleted and/or whether or not a gene encoding abnormal STXBP1 is present as an index. According to the invention, definitive diagnosis of the disease can be performed and individualization and optimization of therapy including gene therapy is expected. Association of STXBP1 gene with the disease is first reported by the invention.
従来技術、競合技術の概要(英語) BACKGROUND ART
The development of an infant newborn - refractory epilepsy is, early myoclonic encephalopathy (early myoclonic encephalopathy: EME), otawara (early infantile epileptic encephalopathy with suppression burst syndrome: EIEE), is West syndrome (nodding epilepsy). Early myoclonic encephalopathy or otawara many of the earlier onset infant syndrome, severe psychomotor epilepsy seizure development delay and in addition, significant suppression burst on brain wave is characteristically observed. Is a series of brain wave West syndrome hipusuarisumia formed on spasm is well known. Brain dysplasia, chromosomal abnormalities, perinatal hypoxic encephalopathy and the like are known as a cause, the cause of idiopathic not apparent genetic predisposition and the presence (non-patent document 1).
Many of the EME EIEE West syndrome and transition from, these diseases include 3 suggesting the presence of a common genetic background has been. Up to now identified as the gene responsible for the disease, family located on chromosome X from an analysis of the example 2 is one gene ARX (aristaless related homeobox), CDKL5 (cyclin-dependent kinase-like 5) to have been reported (non-patent document 2, 3). In the example sporadic, (non-patent document 4) and is a boy EIEE West syndrome ARX (non-patent document 1, 5) in the mutation, CDKL5 mutation is a girl West syndrome (non-patent document 6) is reported. However, the mutation in the gene was identified to be the cause responsible for many cases could not be accounted for, these genes paying attention only to the onset of an infant newborn - refractory epilepsy a definite diagnosis cannot be performed. Involvement of other genes although, new useful gene responsible for a definitive diagnosis has not been reported.
Kato, M. Epilepsy Res, 2006. 70 Suppl 1: p. S87-95.
Stromme, P., et al. Nat Genet, 2002. 30 (4): p. 441-5.
Weaving, L.S., et al. Am J Hum Genet, 2004. 75 (6): p. 1079-93.
Kato, M., et al. Am J Hum Genet, 2007. 81 (2): p. 361-366.
Guerrini, R., et al. Neurology, 2007. 69 (5): p. 427-433.
Evans, J.C., et al. Eur J Hum Genet, 2005. 13 (10): p. 1113-1120.
  • 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 BR BW BY BZ CA CH 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 IS JP KE KG KM 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 PG PH PL PT RO RS RU SC SD SE SG SK SL SM ST SV SY TJ TM TN TR TT TZ UA UG US UZ VC VN ZA ZM ZW
ARIPO: BW GH GM KE LS MW MZ NA SD SL SZ TZ UG ZM ZW
EAPO: AM AZ BY KG KZ MD RU TJ TM
EPO: AT BE BG CH CY CZ DE DK EE ES FI FR GB GR HR HU IE IS IT LT LU LV MC MT NL NO PL PT RO SE SI SK TR
OAPI: BF BJ CF CG CI CM GA GN GQ GW ML MR NE SN TD TG
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