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 (enExample) | 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 (enExample) |
| EP (1) | EP1606418B1 (enExample) |
| JP (1) | JP2006524490A (enExample) |
| AU (1) | AU2003901425A0 (enExample) |
| CA (1) | CA2520271C (enExample) |
| DK (1) | DK1606418T3 (enExample) |
| ES (1) | ES2478624T3 (enExample) |
| NZ (1) | NZ542202A (enExample) |
| WO (1) | WO2004085674A1 (enExample) |
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 |
| NZ530258A (en) | 2001-07-18 | 2006-01-27 | Bionomics Ltd | Mutations in SCN1A SCN2A SCN3A SCN8A sodium ion channels and their use in diagnosing epilepsy |
| 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 |
| AU2003901425A0 (en) | 2003-03-27 | 2003-04-10 | Bionomics Limited | A diagnostic method for epilepsy |
| JP2008546376A (ja) * | 2005-06-16 | 2008-12-25 | バイオノミックス リミテッド | 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 |
| WO2008030638A2 (en) * | 2006-05-16 | 2008-03-13 | Mayo Foundation For Medical Education And Research | Use of dmso and botulinum toxin therapy for urinary incontinence and related disorders |
| WO2011093393A1 (ja) | 2010-01-29 | 2011-08-04 | 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 |
| KR101914309B1 (ko) | 2010-06-23 | 2018-11-02 | 큐알엔에이, 인크. | 전압 작동 나트륨 통로, 알파 소단위(scna)에 대한 자연 안티센스 전사체의 저해에 의한 전압 작동 나트륨 통로, 알파 소단위(scna) 관련된 질환의 치료 |
| HK1251965A1 (zh) * | 2015-10-30 | 2019-05-10 | Ptc医疗公司 | 用於治疗癫痫的方法 |
| 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 |
| 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 |
| 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 |
| NZ522888A (en) | 2000-06-20 | 2005-01-28 | Bionomics Ltd | Mutations in the gamma aminobutyric acid type A receptor subunit ( GABA A ) associated with epilepsy |
| 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 |
| NZ530258A (en) * | 2001-07-18 | 2006-01-27 | Bionomics Ltd | Mutations in SCN1A SCN2A SCN3A SCN8A sodium ion channels and their use in diagnosing epilepsy |
| US7282336B2 (en) | 2001-07-18 | 2007-10-16 | Bionomics Limited | Method of diagnosing epilepsy |
| 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 |
| 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 |
| JP2008546376A (ja) * | 2005-06-16 | 2008-12-25 | バイオノミックス リミテッド | 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 |
-
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 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 DK DK04718885.9T patent/DK1606418T3/da active
- 2004-03-10 ES ES04718885.9T patent/ES2478624T3/es 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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