NZ522888A - Mutations in the gamma aminobutyric acid type A receptor subunit ( GABA A ) associated with epilepsy - Google Patents

Mutations in the gamma aminobutyric acid type A receptor subunit ( GABA A ) associated with epilepsy

Info

Publication number
NZ522888A
NZ522888A NZ522888A NZ52288801A NZ522888A NZ 522888 A NZ522888 A NZ 522888A NZ 522888 A NZ522888 A NZ 522888A NZ 52288801 A NZ52288801 A NZ 52288801A NZ 522888 A NZ522888 A NZ 522888A
Authority
NZ
New Zealand
Prior art keywords
leu
ser
val
thr
lie
Prior art date
Application number
NZ522888A
Other languages
English (en)
Inventor
Robyn Heather Wallace
John Charles Mulley
Samuel Frank Berkovic
Louise Anne Harkin
Leanne Michelle Dibbens
Original Assignee
Bionomics Ltd
Priority date (The priority date 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 date listed.)
Filing date
Publication date
Priority claimed from AUPQ8260A external-priority patent/AUPQ826000A0/en
Priority claimed from AUPR0098A external-priority patent/AUPR009800A0/en
Priority claimed from AUPR4953A external-priority patent/AUPR495301A0/en
Application filed by Bionomics Ltd filed Critical Bionomics Ltd
Publication of NZ522888A publication Critical patent/NZ522888A/en

Links

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 [IG], e.g. monoclonal or polyclonal antibodies
    • C07K16/18—Immunoglobulins [IG], e.g. monoclonal or polyclonal antibodies against material from animals or humans
    • C07K16/28—Immunoglobulins [IG], e.g. monoclonal or polyclonal antibodies against material from animals or humans against receptors, cell surface antigens or cell surface determinants
    • C07K16/286—Immunoglobulins [IG], 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)
  • Immunology (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Molecular Biology (AREA)
  • Neurosurgery (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • General Chemical & Material Sciences (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Genetics & Genomics (AREA)
  • Biochemistry (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Zoology (AREA)
  • Hematology (AREA)
  • Cell Biology (AREA)
  • Physics & Mathematics (AREA)
  • Biotechnology (AREA)
  • Microbiology (AREA)
  • Urology & Nephrology (AREA)
  • Wood Science & Technology (AREA)
  • Pathology (AREA)
  • Psychiatry (AREA)
  • Pain & Pain Management (AREA)
  • Toxicology (AREA)
  • Food Science & Technology (AREA)
  • General Engineering & Computer Science (AREA)
  • Gastroenterology & Hepatology (AREA)
NZ522888A 2000-06-20 2001-06-20 Mutations in the gamma aminobutyric acid type A receptor subunit ( GABA A ) associated with epilepsy NZ522888A (en)

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
NZ522888A true NZ522888A (en) 2005-01-28

Family

ID=27158225

Family Applications (1)

Application Number Title Priority Date Filing Date
NZ522888A NZ522888A (en) 2000-06-20 2001-06-20 Mutations in the gamma aminobutyric acid type A receptor subunit ( GABA A ) associated with epilepsy

Country Status (8)

Country Link
US (2) US7157569B2 (https=)
EP (3) EP1292676B1 (https=)
JP (1) JP2004500126A (https=)
AT (1) ATE437948T1 (https=)
CA (1) CA2411756A1 (https=)
DE (1) DE60139398D1 (https=)
NZ (1) NZ522888A (https=)
WO (1) WO2001098486A1 (https=)

Families Citing this family (11)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AU2002258679A1 (en) * 2001-03-29 2002-10-15 Deltagen, Inc. Disruptions in gaba receptor rh02 subunit, methods adn uses thereof
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
US20090156565A1 (en) * 2004-12-03 2009-06-18 The Children's Hospital Of Philadelphia 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
WO2013032351A1 (en) 2011-08-26 2013-03-07 BIAL - PORTELA & Cª, S.A. Treatments involving eslicarbazepine acetate or eslicarbazepine
GB201409234D0 (en) * 2014-05-23 2014-07-09 Isis Innovation Method
JP7097070B2 (ja) * 2015-10-01 2022-07-07 ゴレイニ インコーポレイテッド クロライドチャネルの標的発現及びその使用方法
WO2018026810A1 (en) * 2016-08-03 2018-02-08 Vanderbilt University Treatment methods using celastrol
JP7509786B2 (ja) * 2019-01-17 2024-07-02 リジェネロン・ファーマシューティカルズ・インコーポレイテッド 気分障害の齧歯類モデル

Family Cites Families (1)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5654172A (en) 1995-06-02 1997-08-05 Human Genome Sciences, Inc. Gabaa receptor epsilon subunit

Also Published As

Publication number Publication date
EP1767638A2 (en) 2007-03-28
EP1292676A1 (en) 2003-03-19
US20060088913A1 (en) 2006-04-27
ATE437948T1 (de) 2009-08-15
CA2411756A1 (en) 2001-12-27
WO2001098486A1 (en) 2001-12-27
US20040038236A1 (en) 2004-02-26
EP1767637A1 (en) 2007-03-28
EP1292676A4 (en) 2004-11-24
EP1767638A3 (en) 2007-04-11
JP2004500126A (ja) 2004-01-08
DE60139398D1 (de) 2009-09-10
US7157569B2 (en) 2007-01-02
EP1292676B1 (en) 2009-07-29

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