JP2008546376A5 - - Google Patents

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Publication number
JP2008546376A5
JP2008546376A5 JP2008516076A JP2008516076A JP2008546376A5 JP 2008546376 A5 JP2008546376 A5 JP 2008546376A5 JP 2008516076 A JP2008516076 A JP 2008516076A JP 2008516076 A JP2008516076 A JP 2008516076A JP 2008546376 A5 JP2008546376 A5 JP 2008546376A5
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JP
Japan
Prior art keywords
seq
nucleic acid
acid molecule
change
epilepsy
Prior art date
Legal status (The legal status is an assumption and is not a legal conclusion. Google has not performed a legal analysis and makes no representation as to the accuracy of the status listed.)
Pending
Application number
JP2008516076A
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English (en)
Japanese (ja)
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JP2008546376A (ja
Filing date
Publication date
Application filed filed Critical
Priority claimed from PCT/AU2006/000841 external-priority patent/WO2006133508A1/en
Publication of JP2008546376A publication Critical patent/JP2008546376A/ja
Publication of JP2008546376A5 publication Critical patent/JP2008546376A5/ja
Pending legal-status Critical Current

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JP2008516076A 2005-06-16 2006-06-16 Scn1a遺伝子における変異を検出することによっててんかんを診断および処置するための方法 Pending JP2008546376A (ja)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
AU2005903146A AU2005903146A0 (en) 2005-06-16 Methods for the diagnosis and treatment of epilepsy
PCT/AU2006/000841 WO2006133508A1 (en) 2005-06-16 2006-06-16 Methods of treatment, and diagnosis of epilepsy by detecting mutations in the scn1a gene

Publications (2)

Publication Number Publication Date
JP2008546376A JP2008546376A (ja) 2008-12-25
JP2008546376A5 true JP2008546376A5 (cg-RX-API-DMAC7.html) 2009-07-30

Family

ID=37531886

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2008516076A Pending JP2008546376A (ja) 2005-06-16 2006-06-16 Scn1a遺伝子における変異を検出することによっててんかんを診断および処置するための方法

Country Status (6)

Country Link
US (1) US20100088778A1 (cg-RX-API-DMAC7.html)
EP (1) EP1904630A4 (cg-RX-API-DMAC7.html)
JP (1) JP2008546376A (cg-RX-API-DMAC7.html)
CA (1) CA2612180A1 (cg-RX-API-DMAC7.html)
NZ (1) NZ564892A (cg-RX-API-DMAC7.html)
WO (1) WO2006133508A1 (cg-RX-API-DMAC7.html)

Families Citing this family (43)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US20050074764A1 (en) * 2001-07-18 2005-04-07 Mulley John Charles Mutations in ion channels
AU2003904154A0 (en) 2003-08-07 2003-08-21 Bionomics Limited Mutations in ion channels
AU2003901425A0 (en) * 2003-03-27 2003-04-10 Bionomics Limited A diagnostic method for epilepsy
JP5540343B2 (ja) * 2007-11-06 2014-07-02 国立大学法人 岡山大学 小児てんかん患者における急性脳炎または急性脳症の罹患リスク判定データの取得方法およびその利用
JP5608863B2 (ja) * 2007-12-28 2014-10-15 公立大学法人横浜市立大学 新生児期〜乳児期発症の難治性てんかんの検出方法
ES2904911T3 (es) * 2009-08-20 2022-04-06 Biosceptre Aust Pty Ltd Anticuerpos anti-receptor P2X7 y fragmentos de los mismos
JP5846372B2 (ja) * 2010-01-29 2016-01-20 国立大学法人 岡山大学 Dravet症候群の発症可能性の判定方法およびその利用
JP2011188837A (ja) * 2010-03-16 2011-09-29 Hirosaki Univ リーシークエンスdnaチップおよび最適抗てんかん薬決定方法
PT2585596T (pt) * 2010-06-23 2021-03-23 Curna Inc Tratamento de doenças relacionadas com a subunidade alfa de canais de sódio dependentes de voltagem (scna) por inibição da transcrição antissentido natural para scna
TWI734935B (zh) * 2011-06-24 2021-08-01 美商可娜公司 上調電壓門控鈉離子通道第I型α次單元(SCN1A)之表現及/或功能之反義寡核苷酸及其用途
US9549909B2 (en) 2013-05-03 2017-01-24 The Katholieke Universiteit Leuven Method for the treatment of dravet syndrome
AU2015326472B2 (en) * 2014-09-29 2020-05-28 Zogenix International Limited Control system for control of distribution of medication
TW201729807A (zh) 2015-10-30 2017-09-01 Ptc治療公司 用於治療癲癇的方法
KR102604132B1 (ko) * 2015-12-14 2023-11-17 콜드스프링하버러보러토리 상염색체 우성 정신 지체 5 및 드라베 증후군의 치료를 위한 안티센스 올리고머
US20170174614A1 (en) 2015-12-22 2017-06-22 Zogenix International Limited Metabolism resistant fenfluramine analogs and methods of using the same
FI3800177T3 (fi) 2015-12-22 2025-04-29 Zogenix International Ltd Fenfluramiinikoostumukset ja menetelmät niiden valmistamiseksi
EP4201427A1 (en) 2016-08-24 2023-06-28 Zogenix International Limited Formulation for inhibiting formation of 5-ht 2b agonists and methods of using same
US20210188839A1 (en) * 2016-11-28 2021-06-24 Praxis Precision Medicines, Inc. Compounds and their methods of use
US11629146B2 (en) 2016-11-28 2023-04-18 Praxis Precision Medicines, Inc. Substituted [1,2,4]triazolo[4,3-a]pyrazines as modulators of sodium channel activity
WO2018098491A1 (en) 2016-11-28 2018-05-31 Praxis Precision Medicines, Inc. Compounds and their methods of use
CN106719436A (zh) * 2016-12-20 2017-05-31 郑州伊美诺生物技术有限公司 一种制备单克隆抗体的小鼠模型建立方法
WO2018148745A1 (en) 2017-02-13 2018-08-16 Praxis Precision Medicines , Inc. Compounds and their methods of use
WO2018187480A1 (en) 2017-04-04 2018-10-11 Praxis Precision Medicines, Inc. Compounds and their methods of use
US20200085838A1 (en) * 2017-05-16 2020-03-19 Praxis Precision Medicines, Inc. Methods of treating epilepsy and neurodevelopmental disorders
WO2019035951A1 (en) 2017-08-15 2019-02-21 Praxis Precision Medicines, Inc. COMPOUNDS AND THEIR METHODS OF USE
CN111278991B (zh) 2017-08-25 2022-04-01 斯托克制药公司 用于治疗病况和疾病的反义寡聚体
US10682317B2 (en) 2017-09-26 2020-06-16 Zogenix International Limited Ketogenic diet compatible fenfluramine formulation
CA3085576A1 (en) 2017-12-13 2019-06-20 The Research Foundation For The State University Of New York Peptides and other agents for treating pain and increasing pain sensitivity
US11571397B2 (en) 2018-05-11 2023-02-07 Zogenix International Limited Compositions and methods for treating seizure-induced sudden death
EP3806834A4 (en) * 2018-05-25 2022-07-27 The Florey Institute of Neuroscience and Mental Health DYNAMIC CLAMPS AND METHODS OF USE THEREOF
CA3101369A1 (en) * 2018-05-29 2019-12-05 Evogen, Inc. Biomarkers and methods for evaluation and treatment of epileptic vs non-epileptic seizures / no seizures / psychogenic non-epileptic seizures
IL309843A (en) 2018-05-30 2024-02-01 Praxis Prec Medicines Inc ion channel modulators
US11939582B2 (en) 2018-08-20 2024-03-26 Rogcon, Inc. Antisense oligonucleotides targeting SCN2A for the treatment of SCN1A encephalopathies
EA202092908A1 (ru) 2018-09-28 2021-05-14 Праксис Пресижн Медсинз, Инк. Модуляторы ионных каналов
CA3117868A1 (en) 2018-11-19 2020-05-28 Zogenix International Limited Methods of treating rett syndrome using fenfluramine
WO2020176776A1 (en) * 2019-02-27 2020-09-03 Stoke Therapeutics, Inc. Antisense oligomers for treatment of conditions and diseases
US11773099B2 (en) 2019-05-28 2023-10-03 Praxis Precision Medicines, Inc. Compounds and their methods of use
US11505554B2 (en) 2019-05-31 2022-11-22 Praxis Precision Medicines, Inc. Substituted pyridines as ion channel modulators
US11279700B2 (en) 2019-05-31 2022-03-22 Praxis Precision Medicines, Inc. Ion channel modulators
US11767325B2 (en) 2019-11-26 2023-09-26 Praxis Precision Medicines, Inc. Substituted [1,2,4]triazolo[4,3-a]pyrazines as ion channel modulators
CN115867657A (zh) 2020-05-11 2023-03-28 斯托克制药公司 用于治疗疾患和疾病的opa1反义寡聚物
US11612574B2 (en) 2020-07-17 2023-03-28 Zogenix International Limited Method of treating patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)
CN116024222B (zh) * 2022-11-30 2023-12-22 湖南家辉生物技术有限公司 一种导致婴儿严重肌阵挛性癫痫的nac1基因突变体及其应用

Family Cites Families (16)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US4016043A (en) * 1975-09-04 1977-04-05 Akzona Incorporated Enzymatic immunological method for the determination of antigens and antibodies
US4172124A (en) * 1978-04-28 1979-10-23 The Wistar Institute Method of producing tumor antibodies
US4474893A (en) * 1981-07-01 1984-10-02 The University of Texas System Cancer Center Recombinant monoclonal antibodies
US4971903A (en) * 1988-03-25 1990-11-20 Edward Hyman Pyrophosphate-based method and apparatus for sequencing nucleic acids
US5331573A (en) * 1990-12-14 1994-07-19 Balaji Vitukudi N Method of design of compounds that mimic conformational features of selected peptides
US6331614B1 (en) * 1998-12-23 2001-12-18 Myriad Genetics, Inc. Human CDC14A gene
JP4048053B2 (ja) * 1999-11-26 2008-02-13 マクギル ユニバーシティー 特発性全身てんかんについてのローカス、当該ローカスのミューテーション、及びてんかんの評価、診断、予後、または治療のための当該ローカスの使用方法
US6703439B2 (en) * 2000-02-09 2004-03-09 Mitsui Chemicals, Inc. Polyolefin resin composition and polyolefin film prepared from the same
AUPQ882600A0 (en) * 2000-07-18 2000-08-10 Bionomics Limited Mutations in ion channels
AUPR220300A0 (en) * 2000-12-20 2001-01-25 Bionomics Limited New epilepsy gene
US7709225B2 (en) * 2001-07-18 2010-05-04 Bionomics Limited Nucleic acids encoding mutations in sodium channels related to epilepsy
AU2003904154A0 (en) * 2003-08-07 2003-08-21 Bionomics Limited Mutations in ion channels
US20050074764A1 (en) * 2001-07-18 2005-04-07 Mulley John Charles Mutations in ion channels
US7282336B2 (en) * 2001-07-18 2007-10-16 Bionomics Limited Method of diagnosing epilepsy
US20030157525A1 (en) * 2001-11-26 2003-08-21 Mintier Gabriel A. Novel human G-protein coupled receptor, HGPRBMY31, and variants and methods of use thereof
AU2003901425A0 (en) * 2003-03-27 2003-04-10 Bionomics Limited A diagnostic method for epilepsy

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