JP2006524490A5 - - Google Patents
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- Publication number
- JP2006524490A5 JP2006524490A5 JP2006503959A JP2006503959A JP2006524490A5 JP 2006524490 A5 JP2006524490 A5 JP 2006524490A5 JP 2006503959 A JP2006503959 A JP 2006503959A JP 2006503959 A JP2006503959 A JP 2006503959A JP 2006524490 A5 JP2006524490 A5 JP 2006524490A5
- Authority
- JP
- Japan
- Prior art keywords
- smei
- seq
- change
- scn1a
- polypeptide
- 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
Links
- 101000631760 Homo sapiens Sodium channel protein type 1 subunit alpha Proteins 0.000 claims 58
- 102100028910 Sodium channel protein type 1 subunit alpha Human genes 0.000 claims 50
- 238000000034 method Methods 0.000 claims 40
- 201000007547 Dravet syndrome Diseases 0.000 claims 33
- 229920001184 polypeptide Polymers 0.000 claims 19
- 108090000765 processed proteins & peptides Proteins 0.000 claims 19
- 102000004196 processed proteins & peptides Human genes 0.000 claims 19
- 238000003556 assay Methods 0.000 claims 16
- 108020004707 nucleic acids Proteins 0.000 claims 16
- 102000039446 nucleic acids Human genes 0.000 claims 16
- 150000007523 nucleic acids Chemical class 0.000 claims 16
- 206010015037 epilepsy Diseases 0.000 claims 10
- 108010052164 Sodium Channels Proteins 0.000 claims 8
- 102000018674 Sodium Channels Human genes 0.000 claims 8
- 238000003745 diagnosis Methods 0.000 claims 6
- 239000000523 sample Substances 0.000 claims 6
- 108020004414 DNA Proteins 0.000 claims 5
- 239000000556 agonist Substances 0.000 claims 5
- 150000001875 compounds Chemical class 0.000 claims 5
- 239000003814 drug Substances 0.000 claims 5
- 238000004519 manufacturing process Methods 0.000 claims 5
- 108091032973 (ribonucleotides)n+m Proteins 0.000 claims 4
- 108010053752 Voltage-Gated Sodium Channels Proteins 0.000 claims 4
- 102000016913 Voltage-Gated Sodium Channels Human genes 0.000 claims 4
- 125000003275 alpha amino acid group Chemical group 0.000 claims 4
- 230000000295 complement effect Effects 0.000 claims 4
- 230000035772 mutation Effects 0.000 claims 4
- 108090000623 proteins and genes Proteins 0.000 claims 4
- 108020004999 messenger RNA Proteins 0.000 claims 3
- 238000012216 screening Methods 0.000 claims 3
- 238000012360 testing method Methods 0.000 claims 3
- 108700028369 Alleles Proteins 0.000 claims 2
- 102000053602 DNA Human genes 0.000 claims 2
- 241001465754 Metazoa Species 0.000 claims 2
- 239000005557 antagonist Substances 0.000 claims 2
- 230000000692 anti-sense effect Effects 0.000 claims 2
- 239000012634 fragment Substances 0.000 claims 2
- 239000002773 nucleotide Substances 0.000 claims 2
- 125000003729 nucleotide group Chemical group 0.000 claims 2
- 239000013610 patient sample Substances 0.000 claims 2
- 102000004169 proteins and genes Human genes 0.000 claims 2
- 230000001105 regulatory effect Effects 0.000 claims 2
- 241000282472 Canis lupus familiaris Species 0.000 claims 1
- 241000283707 Capra Species 0.000 claims 1
- 241000700198 Cavia Species 0.000 claims 1
- 241000282693 Cercopithecidae Species 0.000 claims 1
- 241000699800 Cricetinae Species 0.000 claims 1
- 230000004544 DNA amplification Effects 0.000 claims 1
- 238000001712 DNA sequencing Methods 0.000 claims 1
- 241000282326 Felis catus Species 0.000 claims 1
- 101000829171 Hypocrea virens (strain Gv29-8 / FGSC 10586) Effector TSP1 Proteins 0.000 claims 1
- 108010054477 Immunoglobulin Fab Fragments Proteins 0.000 claims 1
- 102000001706 Immunoglobulin Fab Fragments Human genes 0.000 claims 1
- 108010021625 Immunoglobulin Fragments Proteins 0.000 claims 1
- 102000008394 Immunoglobulin Fragments Human genes 0.000 claims 1
- 108010067060 Immunoglobulin Variable Region Proteins 0.000 claims 1
- 102000017727 Immunoglobulin Variable Region Human genes 0.000 claims 1
- 241000699670 Mus sp. Species 0.000 claims 1
- 108091034117 Oligonucleotide Proteins 0.000 claims 1
- 241000283973 Oryctolagus cuniculus Species 0.000 claims 1
- 241000282579 Pan Species 0.000 claims 1
- 241001494479 Pecora Species 0.000 claims 1
- 241000700159 Rattus Species 0.000 claims 1
- 102000006382 Ribonucleases Human genes 0.000 claims 1
- 108010083644 Ribonucleases Proteins 0.000 claims 1
- 108010003723 Single-Domain Antibodies Proteins 0.000 claims 1
- 241000282887 Suidae Species 0.000 claims 1
- 230000002411 adverse Effects 0.000 claims 1
- 230000004075 alteration Effects 0.000 claims 1
- 230000003321 amplification Effects 0.000 claims 1
- 238000004458 analytical method Methods 0.000 claims 1
- 238000012258 culturing Methods 0.000 claims 1
- 238000003935 denaturing gradient gel electrophoresis Methods 0.000 claims 1
- 229940079593 drug Drugs 0.000 claims 1
- 239000003937 drug carrier Substances 0.000 claims 1
- 238000007823 electrophoretic assay Methods 0.000 claims 1
- 238000001952 enzyme assay Methods 0.000 claims 1
- 239000013604 expression vector Substances 0.000 claims 1
- 230000002068 genetic effect Effects 0.000 claims 1
- 238000004128 high performance liquid chromatography Methods 0.000 claims 1
- 238000009396 hybridization Methods 0.000 claims 1
- 230000008105 immune reaction Effects 0.000 claims 1
- 238000003018 immunoassay Methods 0.000 claims 1
- 238000003199 nucleic acid amplification method Methods 0.000 claims 1
- 239000008194 pharmaceutical composition Substances 0.000 claims 1
- 238000004904 shortening Methods 0.000 claims 1
- 238000002255 vaccination Methods 0.000 claims 1
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| AU2003901425A AU2003901425A0 (en) | 2003-03-27 | 2003-03-27 | A diagnostic method for epilepsy |
| PCT/AU2004/000295 WO2004085674A1 (en) | 2003-03-27 | 2004-03-10 | Methods for the diagnosis and treatment of epilepsy |
Publications (2)
| Publication Number | Publication Date |
|---|---|
| JP2006524490A JP2006524490A (ja) | 2006-11-02 |
| JP2006524490A5 true JP2006524490A5 (https=) | 2007-03-29 |
Family
ID=31500468
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| JP2006503959A Pending JP2006524490A (ja) | 2003-03-27 | 2004-03-10 | てんかんを診断および処置するための方法 |
Country Status (9)
| Country | Link |
|---|---|
| US (2) | US7723027B2 (https=) |
| EP (1) | EP1606418B1 (https=) |
| JP (1) | JP2006524490A (https=) |
| AU (1) | AU2003901425A0 (https=) |
| CA (1) | CA2520271C (https=) |
| DK (1) | DK1606418T3 (https=) |
| ES (1) | ES2478624T3 (https=) |
| NZ (1) | NZ542202A (https=) |
| WO (1) | WO2004085674A1 (https=) |
Families Citing this family (12)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| 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 |
| JP2005501536A (ja) | 2001-07-18 | 2005-01-20 | バイオノミックス リミテッド | イオンチャネルにおける変異 |
| AU2003901425A0 (en) | 2003-03-27 | 2003-04-10 | Bionomics Limited | A diagnostic method for epilepsy |
| EP1904630A4 (en) * | 2005-06-16 | 2009-10-21 | Bionomics Ltd | METHODS OF TREATING AND DIAGNOSING EPILEPSY BY DETECTING MUTATIONS OF THE SCN1A GENE |
| US20090304747A1 (en) * | 2006-05-16 | 2009-12-10 | Mayo Foundation For Medical Education And Research | Use of dmso and botulinum toxin therapy for urinary incontinence and related disorders |
| US20130036482A1 (en) | 2010-01-29 | 2013-02-07 | National University Corporation Okayama University | Method for assessment of potential for development of dravet syndrome and use thereof |
| CN109112126B (zh) | 2010-06-23 | 2024-06-14 | 库尔纳公司 | 通过抑制电压门控钠通道α亚基(SCNA)的天然反义转录物而治疗SCNA相关疾病 |
| JP2018531975A (ja) * | 2015-10-30 | 2018-11-01 | ピーティーシー セラピューティクス，インコーポレーテッド | てんかんの治療方法 |
| WO2019224864A1 (ja) * | 2018-05-21 | 2019-11-28 | 国立研究開発法人理化学研究所 | Ｓｃｎ１ａ遺伝子の発現増強法とそれによるドラベ症候群の治療法 |
| CN113197585B (zh) * | 2021-04-01 | 2022-02-18 | 燕山大学 | 一种神经肌肉信息交互模型构建及参数辨识优化方法 |
Family Cites Families (22)
| 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 |
| NZ207394A (en) | 1983-03-08 | 1987-03-06 | Commw Serum Lab Commission | Detecting or determining sequence of amino acids |
| 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 |
| NO175199C (no) | 1991-12-05 | 1994-09-14 | Kvaerner Fjellstrand As | Flerskrogfartöy |
| US5646040A (en) | 1995-06-30 | 1997-07-08 | Millennium Pharmaceutical, Inc. | Mammalian tub gene |
| US6331614B1 (en) * | 1998-12-23 | 2001-12-18 | Myriad Genetics, Inc. | Human CDC14A gene |
| DE1252330T1 (de) * | 1999-11-26 | 2003-11-27 | Mcgill University, Montreal | Loci der idiopathischen epilepsie, mutationen derselben und verfahren zu deren verwendung zur feststellung, prognose und behandlung von epilepsie |
| US6331573B1 (en) * | 2000-02-29 | 2001-12-18 | Chevron U.S.A. Inc. | Increased liquid sensitivity during fischer-tropsch synthesis by olefin incorporation |
| AUPQ749100A0 (en) | 2000-05-12 | 2000-06-08 | Bionomics Limited | New epilespy gene |
| ATE437948T1 (de) | 2000-06-20 | 2009-08-15 | Bionomics Ltd | Mutation, welche mit epilepsie assoziiert ist |
| 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 |
| JP2005501536A (ja) * | 2001-07-18 | 2005-01-20 | バイオノミックス リミテッド | イオンチャネルにおける変異 |
| 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 |
| 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 |
| EP1904630A4 (en) | 2005-06-16 | 2009-10-21 | Bionomics Ltd | METHODS OF TREATING AND DIAGNOSING EPILEPSY BY DETECTING MUTATIONS OF THE SCN1A GENE |
-
2003
- 2003-03-27 AU AU2003901425A patent/AU2003901425A0/en not_active Abandoned
-
2004
- 2004-03-10 CA CA2520271A patent/CA2520271C/en not_active Expired - Lifetime
- 2004-03-10 ES ES04718885.9T patent/ES2478624T3/es not_active Expired - Lifetime
- 2004-03-10 DK DK04718885.9T patent/DK1606418T3/da active
- 2004-03-10 NZ NZ542202A patent/NZ542202A/en not_active IP Right Cessation
- 2004-03-10 WO PCT/AU2004/000295 patent/WO2004085674A1/en not_active Ceased
- 2004-03-10 EP EP04718885.9A patent/EP1606418B1/en not_active Expired - Lifetime
- 2004-03-10 JP JP2006503959A patent/JP2006524490A/ja active Pending
- 2004-03-23 US US10/806,899 patent/US7723027B2/en not_active Expired - Lifetime
-
2010
- 2010-04-26 US US12/767,523 patent/US8288096B2/en not_active Expired - Fee Related
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