CA2612180A1 - Methods of treatment, and diagnosis of epilepsy by detecting mutations in the scn1a gene - Google Patents
Methods of treatment, and diagnosis of epilepsy by detecting mutations in the scn1a gene Download PDFInfo
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- CA2612180A1 CA2612180A1 CA002612180A CA2612180A CA2612180A1 CA 2612180 A1 CA2612180 A1 CA 2612180A1 CA 002612180 A CA002612180 A CA 002612180A CA 2612180 A CA2612180 A CA 2612180A CA 2612180 A1 CA2612180 A1 CA 2612180A1
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- smei
- alteration
- scn1a
- epilepsy
- related syndrome
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| 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 |
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| NZ (1) | NZ564892A (cg-RX-API-DMAC7.html) |
| WO (1) | WO2006133508A1 (cg-RX-API-DMAC7.html) |
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| 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 |
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| 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 |
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| 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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Also Published As
| Publication number | Publication date |
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| JP2008546376A (ja) | 2008-12-25 |
| EP1904630A1 (en) | 2008-04-02 |
| WO2006133508A1 (en) | 2006-12-21 |
| US20100088778A1 (en) | 2010-04-08 |
| NZ564892A (en) | 2011-10-28 |
| EP1904630A4 (en) | 2009-10-21 |
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