DE60139398D1 - Mutation, welche mit epilepsie assoziiert ist - Google Patents
Mutation, welche mit epilepsie assoziiert istInfo
- Publication number
- DE60139398D1 DE60139398D1 DE60139398T DE60139398T DE60139398D1 DE 60139398 D1 DE60139398 D1 DE 60139398D1 DE 60139398 T DE60139398 T DE 60139398T DE 60139398 T DE60139398 T DE 60139398T DE 60139398 D1 DE60139398 D1 DE 60139398D1
- Authority
- DE
- Germany
- Prior art keywords
- gaba
- receptor
- mutant
- subunits
- acid type
- 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.)
- Expired - Lifetime
Links
- 230000035772 mutation Effects 0.000 title abstract 3
- 206010015037 epilepsy Diseases 0.000 title 1
- OQEBBZSWEGYTPG-UHFFFAOYSA-N 3-aminobutanoic acid Chemical compound CC(N)CC(O)=O OQEBBZSWEGYTPG-UHFFFAOYSA-N 0.000 abstract 4
- 108020004414 DNA Proteins 0.000 abstract 2
- 229960003692 gamma aminobutyric acid Drugs 0.000 abstract 2
- BTCSSZJGUNDROE-UHFFFAOYSA-N gamma-aminobutyric acid Chemical compound NCCCC(O)=O BTCSSZJGUNDROE-UHFFFAOYSA-N 0.000 abstract 2
- 102000005962 receptors Human genes 0.000 abstract 2
- 108020003175 receptors Proteins 0.000 abstract 2
- 102000053602 DNA Human genes 0.000 abstract 1
- 102000004300 GABA-A Receptors Human genes 0.000 abstract 1
- 108090000839 GABA-A Receptors Proteins 0.000 abstract 1
- 239000012634 fragment Substances 0.000 abstract 1
- 230000001225 therapeutic effect Effects 0.000 abstract 1
Classifications
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
- G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
- G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
- G01N33/6896—Neurological disorders, e.g. Alzheimer's disease
-
- 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
- A61P25/06—Antimigraine agents
-
- 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
- A61P25/00—Drugs for disorders of the nervous system
- A61P25/18—Antipsychotics, i.e. neuroleptics; Drugs for mania or schizophrenia
-
- 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
- A61P25/20—Hypnotics; Sedatives
-
- 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
- A61P25/22—Anxiolytics
-
- 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
- A61P25/24—Antidepressants
-
- 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
- A61P25/28—Drugs for disorders of the nervous system for treating neurodegenerative disorders of the central nervous system, e.g. nootropic agents, cognition enhancers, drugs for treating Alzheimer's disease or other forms of dementia
-
- A—HUMAN NECESSITIES
- A61—MEDICAL OR VETERINARY SCIENCE; HYGIENE
- A61P—SPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
- A61P3/00—Drugs for disorders of the metabolism
- A61P3/04—Anorexiants; Antiobesity agents
-
- 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
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K14/00—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
- C07K14/435—Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
- C07K14/705—Receptors; Cell surface antigens; Cell surface determinants
- C07K14/70571—Receptors; Cell surface antigens; Cell surface determinants for neuromediators, e.g. serotonin receptor, dopamine receptor
-
- C—CHEMISTRY; METALLURGY
- C07—ORGANIC CHEMISTRY
- C07K—PEPTIDES
- C07K16/00—Immunoglobulins [IGs], e.g. monoclonal or polyclonal antibodies
- C07K16/18—Immunoglobulins [IGs], e.g. monoclonal or polyclonal antibodies against material from animals or humans
- C07K16/28—Immunoglobulins [IGs], e.g. monoclonal or polyclonal antibodies against material from animals or humans against receptors, cell surface antigens or cell surface determinants
- C07K16/286—Immunoglobulins [IGs], e.g. monoclonal or polyclonal antibodies against material from animals or humans against receptors, cell surface antigens or cell surface determinants against neuromediator receptors, e.g. serotonin receptor, dopamine receptor
-
- 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
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2217/00—Genetically modified animals
-
- A—HUMAN NECESSITIES
- A01—AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
- A01K—ANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
- A01K2217/00—Genetically modified animals
- A01K2217/05—Animals comprising random inserted nucleic acids (transgenic)
-
- 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
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N2800/00—Detection or diagnosis of diseases
- G01N2800/28—Neurological disorders
- G01N2800/2857—Seizure disorders; Epilepsy
Landscapes
- Health & Medical Sciences (AREA)
- Chemical & Material Sciences (AREA)
- Life Sciences & Earth Sciences (AREA)
- Engineering & Computer Science (AREA)
- Organic Chemistry (AREA)
- Biomedical Technology (AREA)
- General Health & Medical Sciences (AREA)
- Medicinal Chemistry (AREA)
- Neurology (AREA)
- Bioinformatics & Cheminformatics (AREA)
- Proteomics, Peptides & Aminoacids (AREA)
- Immunology (AREA)
- Neurosurgery (AREA)
- Molecular Biology (AREA)
- Animal Behavior & Ethology (AREA)
- Veterinary Medicine (AREA)
- Public Health (AREA)
- General Chemical & Material Sciences (AREA)
- Chemical Kinetics & Catalysis (AREA)
- Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
- Pharmacology & Pharmacy (AREA)
- Genetics & Genomics (AREA)
- Biochemistry (AREA)
- Zoology (AREA)
- Analytical Chemistry (AREA)
- Biophysics (AREA)
- Hematology (AREA)
- Pathology (AREA)
- Biotechnology (AREA)
- Cell Biology (AREA)
- Microbiology (AREA)
- Wood Science & Technology (AREA)
- Urology & Nephrology (AREA)
- Physics & Mathematics (AREA)
- Pain & Pain Management (AREA)
- Psychiatry (AREA)
- Food Science & Technology (AREA)
- General Engineering & Computer Science (AREA)
- General Physics & Mathematics (AREA)
- Gastroenterology & Hepatology (AREA)
Applications Claiming Priority (4)
Application Number | Priority Date | Filing Date | Title |
---|---|---|---|
AUPQ8260A AUPQ826000A0 (en) | 2000-06-20 | 2000-06-20 | New epilepsy gene |
AUPR0098A AUPR009800A0 (en) | 2000-09-13 | 2000-09-13 | New epilepsy gene |
AUPR4953A AUPR495301A0 (en) | 2001-05-11 | 2001-05-11 | Novel mutation |
PCT/AU2001/000729 WO2001098486A1 (en) | 2000-06-20 | 2001-06-20 | Mutation associated with epilepsy |
Publications (1)
Publication Number | Publication Date |
---|---|
DE60139398D1 true DE60139398D1 (de) | 2009-09-10 |
Family
ID=27158225
Family Applications (1)
Application Number | Title | Priority Date | Filing Date |
---|---|---|---|
DE60139398T Expired - Lifetime DE60139398D1 (de) | 2000-06-20 | 2001-06-20 | Mutation, welche mit epilepsie assoziiert ist |
Country Status (8)
Country | Link |
---|---|
US (2) | US7157569B2 (de) |
EP (3) | EP1767637A1 (de) |
JP (1) | JP2004500126A (de) |
AT (1) | ATE437948T1 (de) |
CA (1) | CA2411756A1 (de) |
DE (1) | DE60139398D1 (de) |
NZ (1) | NZ522888A (de) |
WO (1) | WO2001098486A1 (de) |
Families Citing this family (10)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
WO2002079380A2 (en) * | 2001-03-29 | 2002-10-10 | Deltagen, Inc. | Disruptions in gaba receptor rh02 subunit, methods adn uses thereof |
WO2003008574A1 (en) | 2001-07-18 | 2003-01-30 | 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 |
WO2006060736A2 (en) * | 2004-12-03 | 2006-06-08 | The Children's Hospital Of Philadelphia | A composition and use thereof in enhancing a therapeutic effect of an antiepileptic drug |
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 |
US9750747B2 (en) | 2011-08-26 | 2017-09-05 | Bail-Portela & Ca, S.A. | Treatments involving eslicarbazepine acetate or eslicarbazepine |
GB201409234D0 (en) † | 2014-05-23 | 2014-07-09 | Isis Innovation | Method |
AU2016332847B2 (en) * | 2015-10-01 | 2023-08-10 | Goleini Inc. | Targeted expression of chloride channels and methods of use thereof |
WO2018026810A1 (en) * | 2016-08-03 | 2018-02-08 | Vanderbilt University | Treatment methods using celastrol |
Family Cites Families (1)
Publication number | Priority date | Publication date | Assignee | Title |
---|---|---|---|---|
US5654172A (en) | 1995-06-02 | 1997-08-05 | Human Genome Sciences, Inc. | Gabaa receptor epsilon subunit |
-
2001
- 2001-06-20 WO PCT/AU2001/000729 patent/WO2001098486A1/en active IP Right Grant
- 2001-06-20 EP EP06077154A patent/EP1767637A1/de not_active Withdrawn
- 2001-06-20 NZ NZ522888A patent/NZ522888A/en not_active IP Right Cessation
- 2001-06-20 AT AT01942903T patent/ATE437948T1/de not_active IP Right Cessation
- 2001-06-20 US US10/312,184 patent/US7157569B2/en not_active Expired - Lifetime
- 2001-06-20 DE DE60139398T patent/DE60139398D1/de not_active Expired - Lifetime
- 2001-06-20 JP JP2002504634A patent/JP2004500126A/ja not_active Abandoned
- 2001-06-20 CA CA002411756A patent/CA2411756A1/en not_active Abandoned
- 2001-06-20 EP EP06077155A patent/EP1767638A3/de not_active Withdrawn
- 2001-06-20 EP EP01942903A patent/EP1292676B1/de not_active Expired - Lifetime
-
2005
- 2005-11-01 US US11/264,558 patent/US20060088913A1/en not_active Abandoned
Also Published As
Publication number | Publication date |
---|---|
US7157569B2 (en) | 2007-01-02 |
US20040038236A1 (en) | 2004-02-26 |
NZ522888A (en) | 2005-01-28 |
CA2411756A1 (en) | 2001-12-27 |
EP1292676B1 (de) | 2009-07-29 |
EP1292676A4 (de) | 2004-11-24 |
EP1767638A2 (de) | 2007-03-28 |
JP2004500126A (ja) | 2004-01-08 |
EP1767638A3 (de) | 2007-04-11 |
WO2001098486A1 (en) | 2001-12-27 |
EP1767637A1 (de) | 2007-03-28 |
EP1292676A1 (de) | 2003-03-19 |
ATE437948T1 (de) | 2009-08-15 |
US20060088913A1 (en) | 2006-04-27 |
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Legal Events
Date | Code | Title | Description |
---|---|---|---|
8364 | No opposition during term of opposition |