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METHOD FOR DETECTING INTRACTABLE EPILEPSY DEVELOPED IN NEONATAL PERIOD AND INFANCY

Foreign code F110006000
File No. S2008-0088
Posted date Dec 27, 2011
Country WIPO
International application number 2008JP073164
International publication number WO 2009084472
Date of international filing Dec 19, 2008
Date of international publication Jul 9, 2009
Priority data
  • P2007-340147 (Dec 28, 2007) JP
Title METHOD FOR DETECTING INTRACTABLE EPILEPSY DEVELOPED IN NEONATAL PERIOD AND INFANCY
Abstract 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.
Outline of related art and contending technology 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.
Scope of claims (In Japanese)請求の範囲 [1]
 生体から分離した試料に対して行なう方法であって、STXBP1遺伝子が欠失しているか否か及び/又は異常型STXBP1をコードする遺伝子が存在するか否かを指標とする、新生児期~乳児期発症の難治性てんかんの検出方法。

[2]
 正常型STXBP1は配列表の配列番号2又は4に示されるアミノ酸配列から成る請求項1記載の方法。

[3]
 前記試料がゲノムDNAである請求項1又は2記載の方法。

[4]
 前記異常型STXBP1をコードする遺伝子は、ミスセンス変異を有するSTXBP1遺伝子である請求項1ないし3のいずれか1項に記載の方法。

[5]
 前記ミスセンス変異は少なくとも以下のいずれか一つである請求項4記載の方法。
(1) 野生型STXBP1中のaa84のバリンがアスパラギン酸になる変異、
(2) 野生型STXBP1中のaa180のシステインがチロシンになる変異、
(3) 野生型STXBP1中のaa443のメチオニンがアルギニンになる変異、
(4) 野生型STXBP1中のaa544のグリシンがアスパラギン酸になる変異。

  • 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 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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