CA2411756A1 - Mutation associated with epilepsy - Google Patents

Mutation associated with epilepsy Download PDF

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Publication number
CA2411756A1
CA2411756A1 CA002411756A CA2411756A CA2411756A1 CA 2411756 A1 CA2411756 A1 CA 2411756A1 CA 002411756 A CA002411756 A CA 002411756A CA 2411756 A CA2411756 A CA 2411756A CA 2411756 A1 CA2411756 A1 CA 2411756A1
Authority
CA
Canada
Prior art keywords
isolated mammalian
subunit
receptor
dna molecule
mutation
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.)
Abandoned
Application number
CA002411756A
Other languages
English (en)
French (fr)
Inventor
Robyn Heather Wallace
John Charles Mulley
Samuel Frank Berkovic
Louise Anne Harkin
Leanne Michelle Dibbens
Current Assignee (The listed assignees may be inaccurate. Google has not performed a legal analysis and makes no representation or warranty as to the accuracy of the list.)
Bionomics Ltd
Original Assignee
Individual
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 Individual filed Critical Individual
Publication of CA2411756A1 publication Critical patent/CA2411756A1/en
Abandoned legal-status Critical Current

Links

Classifications

    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6893Chemical 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
    • G01N33/6896Neurological disorders, e.g. Alzheimer's disease
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • A61P25/06Antimigraine agents
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • A61P25/08Antiepileptics; Anticonvulsants
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • A61P25/18Antipsychotics, i.e. neuroleptics; Drugs for mania or schizophrenia
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • A61P25/20Hypnotics; Sedatives
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • A61P25/22Anxiolytics
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • A61P25/24Antidepressants
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • A61P25/28Drugs 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
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00Drugs for disorders of the metabolism
    • A61P3/04Anorexiants; Antiobesity agents
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P43/00Drugs for specific purposes, not provided for in groups A61P1/00-A61P41/00
    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K14/00Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof
    • C07K14/435Peptides having more than 20 amino acids; Gastrins; Somatostatins; Melanotropins; Derivatives thereof from animals; from humans
    • C07K14/705Receptors; Cell surface antigens; Cell surface determinants
    • C07K14/70571Receptors; Cell surface antigens; Cell surface determinants for neuromediators, e.g. serotonin receptor, dopamine receptor
    • CCHEMISTRY; METALLURGY
    • C07ORGANIC CHEMISTRY
    • C07KPEPTIDES
    • C07K16/00Immunoglobulins [IGs], e.g. monoclonal or polyclonal antibodies
    • C07K16/18Immunoglobulins [IGs], e.g. monoclonal or polyclonal antibodies against material from animals or humans
    • C07K16/28Immunoglobulins [IGs], e.g. monoclonal or polyclonal antibodies against material from animals or humans against receptors, cell surface antigens or cell surface determinants
    • C07K16/286Immunoglobulins [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
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q1/00Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions
    • C12Q1/68Measuring or testing processes involving enzymes, nucleic acids or microorganisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
    • C12Q1/6876Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes
    • C12Q1/6883Nucleic acid products used in the analysis of nucleic acids, e.g. primers or probes for diseases caused by alterations of genetic material
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00Genetically modified animals
    • AHUMAN NECESSITIES
    • A01AGRICULTURE; FORESTRY; ANIMAL HUSBANDRY; HUNTING; TRAPPING; FISHING
    • A01KANIMAL HUSBANDRY; AVICULTURE; APICULTURE; PISCICULTURE; FISHING; REARING OR BREEDING ANIMALS, NOT OTHERWISE PROVIDED FOR; NEW BREEDS OF ANIMALS
    • A01K2217/00Genetically modified animals
    • A01K2217/05Animals comprising random inserted nucleic acids (transgenic)
    • CCHEMISTRY; METALLURGY
    • C12BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
    • C12QMEASURING 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
    • C12Q2600/00Oligonucleotides characterized by their use
    • C12Q2600/156Polymorphic or mutational markers
    • GPHYSICS
    • G01MEASURING; TESTING
    • G01NINVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00Detection or diagnosis of diseases
    • G01N2800/28Neurological disorders
    • G01N2800/2857Seizure 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)
  • Chemical Kinetics & Catalysis (AREA)
  • Animal Behavior & Ethology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Genetics & Genomics (AREA)
  • Biochemistry (AREA)
  • Zoology (AREA)
  • Analytical Chemistry (AREA)
  • Biophysics (AREA)
  • Hematology (AREA)
  • Biotechnology (AREA)
  • Urology & Nephrology (AREA)
  • Microbiology (AREA)
  • Physics & Mathematics (AREA)
  • Wood Science & Technology (AREA)
  • Cell Biology (AREA)
  • Pathology (AREA)
  • Pain & Pain Management (AREA)
  • Psychiatry (AREA)
  • General Physics & Mathematics (AREA)
  • General Engineering & Computer Science (AREA)
  • Toxicology (AREA)
  • Gastroenterology & Hepatology (AREA)
CA002411756A 2000-06-20 2001-06-20 Mutation associated with epilepsy Abandoned CA2411756A1 (en)

Applications Claiming Priority (7)

Application Number Priority Date Filing Date Title
AUPQ8260A AUPQ826000A0 (en) 2000-06-20 2000-06-20 New epilepsy gene
AUPQ8260 2000-06-20
AUPR0098A AUPR009800A0 (en) 2000-09-13 2000-09-13 New epilepsy gene
AUPR0098 2000-09-13
AUPR4953A AUPR495301A0 (en) 2001-05-11 2001-05-11 Novel mutation
AUPR4953 2001-05-11
PCT/AU2001/000729 WO2001098486A1 (en) 2000-06-20 2001-06-20 Mutation associated with epilepsy

Publications (1)

Publication Number Publication Date
CA2411756A1 true CA2411756A1 (en) 2001-12-27

Family

ID=27158225

Family Applications (1)

Application Number Title Priority Date Filing Date
CA002411756A Abandoned CA2411756A1 (en) 2000-06-20 2001-06-20 Mutation associated with epilepsy

Country Status (8)

Country Link
US (2) US7157569B2 (enExample)
EP (3) EP1767638A3 (enExample)
JP (1) JP2004500126A (enExample)
AT (1) ATE437948T1 (enExample)
CA (1) CA2411756A1 (enExample)
DE (1) DE60139398D1 (enExample)
NZ (1) NZ522888A (enExample)
WO (1) WO2001098486A1 (enExample)

Families Citing this family (11)

* Cited by examiner, † Cited by third party
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
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
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
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
RU2639120C2 (ru) * 2011-08-26 2017-12-19 Биал-Портела Энд Ка, С.А. Лечение с использованием ацетата эсликарбазепина или эсликарбазепина
GB201409234D0 (en) * 2014-05-23 2014-07-09 Isis Innovation Method
EP3355938B1 (en) * 2015-10-01 2024-02-07 Goleini Inc. Targeted expression of chloride channels and methods of use thereof
US20200000752A1 (en) * 2016-08-03 2020-01-02 Vanderbilt University Method for Treating Epilepsy
US11470828B2 (en) * 2019-01-17 2022-10-18 Regeneran Pharmaceuticals, Inc. Rodent model of mood disorders

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
EP1292676A4 (en) 2004-11-24
US7157569B2 (en) 2007-01-02
DE60139398D1 (de) 2009-09-10
JP2004500126A (ja) 2004-01-08
EP1767638A3 (en) 2007-04-11
EP1292676B1 (en) 2009-07-29
EP1292676A1 (en) 2003-03-19
EP1767637A1 (en) 2007-03-28
US20040038236A1 (en) 2004-02-26
NZ522888A (en) 2005-01-28
US20060088913A1 (en) 2006-04-27
ATE437948T1 (de) 2009-08-15
WO2001098486A1 (en) 2001-12-27

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Legal Events

Date Code Title Description
EEER Examination request
FZDE Discontinued