DE1252330T1 - Loci der idiopathischen epilepsie, mutationen derselben und verfahren zu deren verwendung zur feststellung, prognose und behandlung von epilepsie - Google Patents
Loci der idiopathischen epilepsie, mutationen derselben und verfahren zu deren verwendung zur feststellung, prognose und behandlung von epilepsieInfo
- Publication number
- DE1252330T1 DE1252330T1 DE1252330T DE00981103T DE1252330T1 DE 1252330 T1 DE1252330 T1 DE 1252330T1 DE 1252330 T DE1252330 T DE 1252330T DE 00981103 T DE00981103 T DE 00981103T DE 1252330 T1 DE1252330 T1 DE 1252330T1
- Authority
- DE
- Germany
- Prior art keywords
- epilepsy
- prognosing
- loci
- mutations
- detecting
- 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
Classifications
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
- C12Q1/6883—Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P25/00—Drugs for disorders of the nervous system
- A61P25/08—Antiepileptics; Anticonvulsants
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P43/00—Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
Applications Claiming Priority (2)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
US16762399P | 1999-11-26 | 1999-11-26 | |
PCT/CA2000/001404 WO2001038564A2 (en) | 1999-11-26 | 2000-11-24 | Loci for idiopathic generalized epilepsy, mutations thereof and method using same to assess, diagnose, prognose or treat epilepsy |
Publications (1)
Publication Number | Publication Date |
---|---|
DE1252330T1 true DE1252330T1 (de) | 2003-11-27 |
Family
ID=22608112
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
DE1252330T Pending DE1252330T1 (de) | 1999-11-26 | 2000-11-24 | Loci der idiopathischen epilepsie, mutationen derselben und verfahren zu deren verwendung zur feststellung, prognose und behandlung von epilepsie |
Country Status (7)
Country | Link |
---|---|
US (5) | US7485449B2 (de) |
EP (2) | EP2112234A3 (de) |
JP (2) | JP4048053B2 (de) |
AU (5) | AU1846501A (de) |
CA (1) | CA2394229C (de) |
DE (1) | DE1252330T1 (de) |
WO (1) | WO2001038564A2 (de) |
Families Citing this family (42)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
AU2007202499B2 (en) * | 1998-12-10 | 2010-11-18 | Bionomics Limited | Mutations in ion channels |
CA2394229C (en) | 1999-11-26 | 2010-04-13 | Mcgill University | Loci for idiopathic generalized epilepsy, mutations thereof and method using same to assess, diagnose, prognose or treat epilepsy |
US20020076780A1 (en) * | 2000-08-16 | 2002-06-20 | Turner C. Alexander | Novel human ion channel proteins and polynucleotides encoding the same |
AUPR220300A0 (en) * | 2000-12-20 | 2001-01-25 | Bionomics Limited | New epilepsy gene |
AU2002216826B2 (en) * | 2000-12-20 | 2007-07-12 | Bionomics Limited | Sodium-channel alpha1-subunit and their polypeptides and their treatment of generalised epilepsy with febrile seizures plus |
AUPR492201A0 (en) * | 2001-05-10 | 2001-06-07 | Bionomics Limited | Novel mutation |
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 |
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 |
US20060088827A1 (en) * | 2002-01-17 | 2006-04-27 | Rainer Hipfel | Diagnostic and therapeutic use of a voltage-gated ion channel scn2a for neurodegenerative diseases |
US9278088B2 (en) | 2002-02-19 | 2016-03-08 | Xenon Pharmaceuticals Inc. | Methods for identifying analgesic agents |
WO2003072751A2 (en) * | 2002-02-25 | 2003-09-04 | Vanderbilt University | Expression system for human brain-specific voltage-gated sodium channel, type 1 |
AU2003901425A0 (en) | 2003-03-27 | 2003-04-10 | Bionomics Limited | A diagnostic method for epilepsy |
JP2007518422A (ja) * | 2004-01-21 | 2007-07-12 | ユニバーシティ・オブ・ユタ・リサーチ・ファウンデーション | 変異体ナトリウムチャンネルNaν1.7およびそれに関連する方法 |
MY144968A (en) | 2005-04-11 | 2011-11-30 | Xenon Pharmaceuticals Inc | Spiro-oxindole compounds and their uses as therapeutic agents |
US20100088778A1 (en) * | 2005-06-16 | 2010-04-08 | John Charles Mulley | Methods of Treatment, and Diagnosis of Epilepsy by Detecting Mutations in the SCN1A Gene |
US7766942B2 (en) * | 2006-08-31 | 2010-08-03 | Warsaw Orthopedic, Inc. | Polymer rods for spinal applications |
CL2007002950A1 (es) | 2006-10-12 | 2008-02-01 | Xenon Pharmaceuticals Inc | Uso de compuestos derivados de espiro-oxindol en el tratamiento de hipercolesterolemia, hiperplasia benigna de prostata, pruritis, cancer |
WO2009006793A1 (en) * | 2007-07-06 | 2009-01-15 | The Chinese University Of Hong Kong | Polymorphisms of scn2a associated with resistance to antiepileptic drugs and use thereof |
RU2011119626A (ru) | 2008-10-17 | 2012-11-27 | Ксенон Фармасьютикалз Инк. | Спирооксиндольные соединения и их применение в качестве терапевтичеких средств |
WO2010045197A1 (en) | 2008-10-17 | 2010-04-22 | Xenon Pharmaceuticals, Inc. | Spiro-oxindole compounds and their use as therapeutic agents |
WO2010078307A1 (en) | 2008-12-29 | 2010-07-08 | Xenon Pharmaceuticals Inc. | Spiro-oxindole-derivatives as sodium channel blockers |
AR077252A1 (es) | 2009-06-29 | 2011-08-10 | Xenon Pharmaceuticals Inc | Enantiomeros de compuestos de espirooxindol y sus usos como agentes terapeuticos |
CA2773983A1 (en) | 2009-09-11 | 2011-03-17 | University Of Utah Research Foundation | Mutant sodium channel nav1.7 and methods related thereto |
RU2015103694A (ru) | 2009-10-14 | 2015-06-27 | Ксенон Фармасьютикалз Инк. | Способы синтеза спиро-оксиндольных соединений |
CN102946859B (zh) | 2010-02-26 | 2016-03-02 | 泽农医药公司 | 用于局部给药的螺-羟吲哚化合物的药物组合物及其作为治疗剂的用途 |
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 |
US8919356B2 (en) | 2010-12-14 | 2014-12-30 | Whirlpool Corporation | Ozone generation module |
EP2686340A2 (de) | 2011-03-16 | 2014-01-22 | Amgen Inc. | Hochwirksame und selektive inhibitoren von nav1.3 nav1.7 |
MX365525B (es) * | 2011-09-06 | 2019-06-06 | Curna Inc | Compuestos que regulan la expresión de subunidades alfa de canales de sodio regulados por voltaje en enfermedades relacionadas con epilepsia mioclónica severa de la infancia. |
EP2809656A2 (de) | 2011-12-28 | 2014-12-10 | Allergan, Inc. | Benzimidazolderivate als selektive blocker eines dauerhaften natriumstroms |
EP2797896A1 (de) | 2011-12-28 | 2014-11-05 | Allergan, Inc. | Benzimidazolderivate als selektive blocker eines dauerhaften natriumstroms |
WO2014110628A1 (en) * | 2013-01-18 | 2014-07-24 | Itek Ventures Pty Ltd | Gene and mutations thereof associated with seizure disorders |
EP2770325A1 (de) | 2013-02-26 | 2014-08-27 | Institut du Cerveau et de la Moelle Epiniere-ICM | Mutationen von DEPDC5 zur Diagnose von epileptischen Funktionsstörungen, Erkrankungen oder Leiden |
US9636418B2 (en) | 2013-03-12 | 2017-05-02 | Amgen Inc. | Potent and selective inhibitors of NAV1.7 |
US10344060B2 (en) | 2013-03-12 | 2019-07-09 | Amgen Inc. | Potent and selective inhibitors of Nav1.7 |
TW201636017A (zh) | 2015-02-05 | 2016-10-16 | 梯瓦製藥國際有限責任公司 | 以螺吲哚酮化合物之局部調配物治療帶狀疱疹後遺神經痛之方法 |
US10813357B1 (en) | 2015-05-26 | 2020-10-27 | Gojo Industries, Inc. | Compositions and methods with efficacy against spores and other organisms |
TW202315946A (zh) | 2017-04-03 | 2023-04-16 | 美商編碼製藥公司 | 組織選擇性轉基因表現 |
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 |
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 |
US20230272387A1 (en) * | 2020-07-22 | 2023-08-31 | The Florey Institute Of Neuroscience And Mental Health | Compositions and methods for treating disorders associated with loss-of-function mutations in scn2a |
Family Cites Families (17)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US4683195A (en) | 1986-01-30 | 1987-07-28 | Cetus Corporation | Process for amplifying, detecting, and/or-cloning nucleic acid sequences |
US4683202A (en) | 1985-03-28 | 1987-07-28 | Cetus Corporation | Process for amplifying nucleic acid sequences |
US4965188A (en) | 1986-08-22 | 1990-10-23 | Cetus Corporation | Process for amplifying, detecting, and/or cloning nucleic acid sequences using a thermostable enzyme |
US4800159A (en) | 1986-02-07 | 1989-01-24 | Cetus Corporation | Process for amplifying, detecting, and/or cloning nucleic acid sequences |
US4981784A (en) | 1987-12-02 | 1991-01-01 | The Salk Institute For Biological Studies | Retinoic acid receptor method |
US5223409A (en) | 1988-09-02 | 1993-06-29 | Protein Engineering Corp. | Directed evolution of novel binding proteins |
US5482845A (en) | 1993-09-24 | 1996-01-09 | The Trustees Of Columbia University In The City Of New York | Method for construction of normalized cDNA libraries |
US5593862A (en) * | 1994-10-04 | 1997-01-14 | Research Foundation Of State University Of New York | Nucleic acids encoding drosophila tipE cation channel proteins and recombinant expression of the same |
DE69535830D1 (de) | 1994-11-02 | 2008-10-16 | Trophix Pharm Inc | Natrium-ionenkanäle spezifisch für das periphäre nervensystem, dna welche diese kodiert, wirkstoff-suche und methoden zu deren herstellung und verwendung |
GB9513180D0 (en) * | 1995-06-28 | 1995-08-30 | Univ London | Ion channel |
US6030810A (en) * | 1997-02-26 | 2000-02-29 | Delgado; Stephen Gregory | Cloned tetrodotoxin-sensitive sodium channel α-subunit and a splice variant thereof |
CA2307316C (en) * | 1997-10-24 | 2010-12-21 | University Of Utah Research Foundation | Kcnq2 and kcnq3-potassium channel genes which are mutated in benign familial neonatal convulsions (bfnc) and other epilepsies |
US6269350B1 (en) * | 1998-07-24 | 2001-07-31 | Neopost Inc. | Method and apparatus for placing automated service calls for postage meter and base |
CA2394229C (en) | 1999-11-26 | 2010-04-13 | Mcgill University | Loci for idiopathic generalized epilepsy, mutations thereof and method using same to assess, diagnose, prognose or treat epilepsy |
US20020076780A1 (en) | 2000-08-16 | 2002-06-20 | Turner C. Alexander | Novel human ion channel proteins and polynucleotides encoding the same |
US6673549B1 (en) | 2000-10-12 | 2004-01-06 | Incyte Corporation | Genes expressed in C3A liver cell cultures treated with steroids |
AUPR220300A0 (en) * | 2000-12-20 | 2001-01-25 | Bionomics Limited | New epilepsy gene |
-
2000
- 2000-11-24 CA CA2394229A patent/CA2394229C/en not_active Expired - Lifetime
- 2000-11-24 DE DE1252330T patent/DE1252330T1/de active Pending
- 2000-11-24 WO PCT/CA2000/001404 patent/WO2001038564A2/en active Application Filing
- 2000-11-24 EP EP09167501A patent/EP2112234A3/de not_active Ceased
- 2000-11-24 EP EP00981103A patent/EP1252330A2/de not_active Withdrawn
- 2000-11-24 AU AU18465/01A patent/AU1846501A/en not_active Abandoned
- 2000-11-24 JP JP2001539906A patent/JP4048053B2/ja not_active Expired - Lifetime
-
2003
- 2003-09-17 US US10/664,422 patent/US7485449B2/en not_active Expired - Lifetime
- 2003-09-17 US US10/664,603 patent/US7528093B2/en not_active Expired - Lifetime
- 2003-09-17 US US10/664,423 patent/US7655460B2/en not_active Expired - Lifetime
-
2007
- 2007-04-18 JP JP2007109815A patent/JP2007185199A/ja active Pending
- 2007-04-27 AU AU2007201976A patent/AU2007201976B2/en active Active
- 2007-04-27 AU AU2007201991A patent/AU2007201991A1/en not_active Abandoned
-
2009
- 2009-02-02 US US12/364,166 patent/US7951931B2/en not_active Expired - Fee Related
- 2009-12-14 US US12/637,219 patent/US8143005B2/en not_active Expired - Fee Related
-
2011
- 2011-04-19 AU AU2011201761A patent/AU2011201761A1/en not_active Abandoned
-
2014
- 2014-06-24 AU AU2014203437A patent/AU2014203437B2/en not_active Expired
Also Published As
Publication number | Publication date |
---|---|
EP2112234A3 (de) | 2010-06-16 |
WO2001038564A3 (en) | 2001-11-08 |
AU1846501A (en) | 2001-06-04 |
EP2112234A2 (de) | 2009-10-28 |
AU2014203437B2 (en) | 2016-11-17 |
AU2007201991A1 (en) | 2007-06-14 |
JP2007185199A (ja) | 2007-07-26 |
JP4048053B2 (ja) | 2008-02-13 |
CA2394229A1 (en) | 2001-05-31 |
WO2001038564A2 (en) | 2001-05-31 |
US7951931B2 (en) | 2011-05-31 |
JP2004512812A (ja) | 2004-04-30 |
AU2011201761A1 (en) | 2011-05-12 |
US8143005B2 (en) | 2012-03-27 |
US20090148855A1 (en) | 2009-06-11 |
US7528093B2 (en) | 2009-05-05 |
US20040096886A1 (en) | 2004-05-20 |
CA2394229C (en) | 2010-04-13 |
US20040096885A1 (en) | 2004-05-20 |
US20040214195A1 (en) | 2004-10-28 |
US7655460B2 (en) | 2010-02-02 |
US20100092990A1 (en) | 2010-04-15 |
AU2007201976A1 (en) | 2007-06-21 |
EP1252330A2 (de) | 2002-10-30 |
AU2014203437A1 (en) | 2014-08-07 |
AU2007201976B2 (en) | 2011-09-29 |
US7485449B2 (en) | 2009-02-03 |
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