JP2008546376A5 - - Google Patents
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- 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
- Authority
- 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
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- 150000007523 nucleic acids Chemical class 0.000 claims 8
- 108020004707 nucleic acids Proteins 0.000 claims 8
- 102100000050 SCN1A Human genes 0.000 claims 5
- 101700001078 SCN1A Proteins 0.000 claims 5
- 206010015037 Epilepsy Diseases 0.000 claims 3
- 229920001850 Nucleic acid sequence Polymers 0.000 claims 2
- 208000007697 Partial Epilepsy Diseases 0.000 claims 2
- 206010061334 Partial seizure Diseases 0.000 claims 2
- 201000007186 focal epilepsy Diseases 0.000 claims 2
- 201000010874 syndrome Diseases 0.000 claims 2
- 238000001712 DNA sequencing Methods 0.000 claims 1
- 102000016913 Voltage-Gated Sodium Channels Human genes 0.000 claims 1
- 108010053752 Voltage-Gated Sodium Channels Proteins 0.000 claims 1
- 125000003275 alpha amino acid group Chemical group 0.000 claims 1
- 238000003745 diagnosis Methods 0.000 claims 1
- 229920001184 polypeptide Polymers 0.000 claims 1
Claims (8)
- 以下のことを含む、患者におけるＳＭＥＩ，ＳＭＥＢ，原因不明の部分性てんかん（ＣＰ）、徴候性全身性てんかん（ＳＧ）、徴候性部分性てんかん（ＳＰ）および未知の病因を有する脳炎後のてんかん（ＰＥ）からなる群から選択されるてんかんの亜症候群を診断する方法：
（１）患者から得られたサンプル中のＳＣＮ１Ａ遺伝子における変化を検出し；そして
（２）前記変化を表３に示される変化のいずれか１つと比較し、さらに、もし前記変化が表３に示される変化のいずれか１つと同一であれば、てんかん亜症候群の診断が、表３で規定される相関に従って行なわれる。 - ＤＮＡ配列決定が行なわれる請求項１に記載の方法。
- 哺乳動物の電位依存性ナトリウムチャネルの変化したＳＣＮ１Ａサブユニットをコードする単離された核酸分子であって、前記変化はＳＭＥＩまたはＳＭＥＩに関係する症候群の表現型を生じさせ、前記核酸分子は表３に規定されるような変化を含む単離された核酸分子。
- 前記核酸分子は配列番号１〜配列番号３３のいずれか１つに規定される配列を有する請求項３に記載の単離された核酸分子。
- 配列番号１〜配列番号４１のいずれか１つに規定されるヌクレオチド配列を含む単離された核酸分子。
- 配列番号１〜配列番号４１のいずれか１つに規定されるヌクレオチド配列からなる単離された核酸分子。
- 請求項３〜６のいずれか一項に記載の核酸分子を含む細胞。
- 配列番号４２〜配列番号７４のいずれかに１つに規定されるアミノ酸配列からなる単離されたポリペプチド。
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 (ja) | 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 (ja) |
| EP (1) | EP1904630A4 (ja) |
| JP (1) | JP2008546376A (ja) |
| CA (1) | CA2612180A1 (ja) |
| NZ (1) | NZ564892A (ja) |
| WO (1) | WO2006133508A1 (ja) |
Families Citing this family (39)
| Publication number | Priority date | Publication date | Assignee | Title |
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| AU2002318972B8 (en) * | 2001-07-18 | 2007-08-09 | Bionomics Limited | 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 |
| WO2011020155A1 (en) | 2009-08-20 | 2011-02-24 | Biosceptre International Limited | Anti p2x7 receptor antibodies and fragments thereof |
| 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 |
| RU2588654C2 (ru) * | 2010-06-23 | 2016-07-10 | Курна, Инк. | Лечение заболеваний, связанных с альфа-субъединицей потенциалзависимого натриевого канала (scna), путем ингибирования природного антисмыслового транскрипта гена 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 |
| AU2015326472B2 (en) * | 2014-09-29 | 2020-05-28 | Zogenix International Limited | Control system for control of distribution of medication |
| MX2018005361A (es) * | 2015-10-30 | 2018-06-07 | Ptc Therapeutics Inc | Metodos para tratar epilepsia. |
| AU2016370653A1 (en) | 2015-12-14 | 2018-06-21 | Cold Spring Harbor Laboratory | Antisense oligomers for treatment of Autosomal Dominant Mental Retardation-5 and Dravet Syndrome |
| WO2017112701A1 (en) | 2015-12-22 | 2017-06-29 | Zogenix International Limited | Metabolism resistant fenfluramine analogs and methods of using the same |
| JP6893213B2 (ja) | 2015-12-22 | 2021-06-23 | ゾゲニクス インターナショナル リミテッド | フェンフルラミン組成物およびその調製法 |
| RU2746000C2 (ru) | 2016-08-24 | 2021-04-05 | Зодженикс Интернэшнл Лимитед | Состав для ингибирования образования агонистов 5-ht2b и способы его применения |
| WO2018098500A1 (en) * | 2016-11-28 | 2018-05-31 | Praxis Precision Medicines, Inc. | Compounds and their methods of use |
| US11261188B2 (en) | 2016-11-28 | 2022-03-01 | Praxis Precision Medicines, Inc. | Fused heteroaryl compounds, and methods thereof for treating diseases, disorders, and conditions relating to aberrant function of a sodium channel |
| AU2017364901A1 (en) | 2016-11-28 | 2019-06-13 | 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 |
| US11731966B2 (en) | 2017-04-04 | 2023-08-22 | 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 |
| US11278535B2 (en) | 2017-08-15 | 2022-03-22 | Praxis Precision Medicines, Inc. | Compounds and their methods of use |
| EP4303321A2 (en) | 2017-08-25 | 2024-01-10 | Stoke Therapeutics, Inc. | Antisense oligomers for treatment of conditions and diseases |
| US10682317B2 (en) | 2017-09-26 | 2020-06-16 | Zogenix International Limited | Ketogenic diet compatible fenfluramine formulation |
| US11535649B2 (en) | 2017-12-13 | 2022-12-27 | 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 |
| US20210215665A1 (en) * | 2018-05-25 | 2021-07-15 | Rogcon U.R., Inc. | Dynamic clamps and methods of use thereof |
| EP3801596A4 (en) * | 2018-05-29 | 2023-01-04 | Evogen, Inc. | BIOMARKERS AND METHODS OF ASSESSING AND METHODS OF TREATING EPILEPTIC SEIZURES VERSUS NON-EPILEPTIC SEIZURES/NON-EPILEPTIC SEIZURES/PSYCHOGENIC NON-EPILEPTIC SEIZURES |
| US11866439B2 (en) | 2018-05-30 | 2024-01-09 | Praxis Precision 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 |
| JP2022522205A (ja) * | 2019-02-27 | 2022-04-14 | ストーク セラピューティクス，インク． | 病態及び疾患の治療用アンチセンスオリゴマー |
| US11773099B2 (en) | 2019-05-28 | 2023-10-03 | Praxis Precision Medicines, Inc. | Compounds and their methods of use |
| US11279700B2 (en) | 2019-05-31 | 2022-03-22 | Praxis Precision Medicines, Inc. | Ion channel modulators |
| US11505554B2 (en) | 2019-05-31 | 2022-11-22 | Praxis Precision Medicines, Inc. | Substituted pyridines as 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 |
| 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)
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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 |
| AU2002318972B8 (en) * | 2001-07-18 | 2007-08-09 | Bionomics Limited | Mutations in ion channels |
| US6331614B1 (en) * | 1998-12-23 | 2001-12-18 | Myriad Genetics, Inc. | Human CDC14A gene |
| AU1846501A (en) * | 1999-11-26 | 2001-06-04 | Bionomics Limited | Loci for idiopathic generalized epilepsy, mutations thereof and method using same to assess, diagnose, prognose or treat epilepsy |
| 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 |
| US7282336B2 (en) * | 2001-07-18 | 2007-10-16 | Bionomics Limited | Method of diagnosing epilepsy |
| AU2003904154A0 (en) * | 2003-08-07 | 2003-08-21 | Bionomics Limited | Mutations in ion channels |
| US7709225B2 (en) * | 2001-07-18 | 2010-05-04 | Bionomics Limited | Nucleic acids encoding mutations in sodium channels related to epilepsy |
| EP1474176A4 (en) * | 2001-11-26 | 2005-06-15 | Bristol Myers Squibb Co | HUMAN G PROTEIN-COUPLED RECEPTOR, HGPRBMY31, VARIANTS AND METHODS OF USING THE SAME |
| AU2003901425A0 (en) * | 2003-03-27 | 2003-04-10 | Bionomics Limited | A diagnostic method for epilepsy |
-
2006
- 2006-06-16 JP JP2008516076A patent/JP2008546376A/ja active Pending
- 2006-06-16 WO PCT/AU2006/000841 patent/WO2006133508A1/en active Application Filing
- 2006-06-16 EP EP06741247A patent/EP1904630A4/en not_active Ceased
- 2006-06-16 CA CA002612180A patent/CA2612180A1/en not_active Abandoned
- 2006-06-16 US US11/922,377 patent/US20100088778A1/en not_active Abandoned
- 2006-06-16 NZ NZ564892A patent/NZ564892A/en unknown
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