CA2534812A1 - Mutations in ion channels - Google Patents

Mutations in ion channels Download PDF

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Publication number
CA2534812A1
CA2534812A1 CA002534812A CA2534812A CA2534812A1 CA 2534812 A1 CA2534812 A1 CA 2534812A1 CA 002534812 A CA002534812 A CA 002534812A CA 2534812 A CA2534812 A CA 2534812A CA 2534812 A1 CA2534812 A1 CA 2534812A1
Authority
CA
Canada
Prior art keywords
ion channel
disease
nucleic acid
polypeptide
epilepsy
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
CA002534812A
Other languages
English (en)
French (fr)
Inventor
John Charles Mulley
Louise Anne Harkin
Leanne Michelle Dibbens
Hilary Anne Phillips
Sarah Elizabeth Heron
Samuel Frank Berkovic
Ingrid Eileen Scheffer
Anne Davy
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
Application filed by Individual filed Critical Individual
Publication of CA2534812A1 publication Critical patent/CA2534812A1/en
Abandoned legal-status Critical Current

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    • 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
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P19/00Drugs for skeletal disorders
    • A61P19/04Drugs for skeletal disorders for non-specific disorders of the connective tissue
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P21/00Drugs for disorders of the muscular or neuromuscular system
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P21/00Drugs for disorders of the muscular or neuromuscular system
    • A61P21/04Drugs for disorders of the muscular or neuromuscular system for myasthenia gravis
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • A61P25/04Centrally acting analgesics, e.g. opioids
    • 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
    • A61P25/14Drugs for disorders of the nervous system for treating abnormal movements, e.g. chorea, dyskinesia
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P25/00Drugs for disorders of the nervous system
    • A61P25/14Drugs for disorders of the nervous system for treating abnormal movements, e.g. chorea, dyskinesia
    • A61P25/16Anti-Parkinson drugs
    • 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
    • A61P25/22Anxiolytics
    • 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
    • A61P27/00Drugs for disorders of the senses
    • A61P27/02Ophthalmic agents
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P29/00Non-central analgesic, antipyretic or antiinflammatory agents, e.g. antirheumatic agents; Non-steroidal antiinflammatory drugs [NSAID]
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00Drugs for disorders of the metabolism
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P3/00Drugs for disorders of the metabolism
    • A61P3/08Drugs for disorders of the metabolism for glucose homeostasis
    • AHUMAN NECESSITIES
    • A61MEDICAL OR VETERINARY SCIENCE; HYGIENE
    • A61PSPECIFIC THERAPEUTIC ACTIVITY OF CHEMICAL COMPOUNDS OR MEDICINAL PREPARATIONS
    • A61P9/00Drugs for disorders of the cardiovascular system
    • A61P9/06Antiarrhythmics
    • 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
    • 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
    • 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

Landscapes

  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Medicinal Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Veterinary Medicine (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Animal Behavior & Ethology (AREA)
  • Public Health (AREA)
  • General Chemical & Material Sciences (AREA)
  • Neurology (AREA)
  • Biomedical Technology (AREA)
  • Neurosurgery (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • Biophysics (AREA)
  • Biochemistry (AREA)
  • Pain & Pain Management (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Toxicology (AREA)
  • Cell Biology (AREA)
  • Diabetes (AREA)
  • Psychiatry (AREA)
  • Physical Education & Sports Medicine (AREA)
  • Orthopedic Medicine & Surgery (AREA)
  • Pathology (AREA)
  • General Engineering & Computer Science (AREA)
  • Obesity (AREA)
  • Microbiology (AREA)
  • Biotechnology (AREA)
CA002534812A 2003-08-07 2004-08-06 Mutations in ion channels Abandoned CA2534812A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
AU2003904154 2003-08-07
AU2003904154A AU2003904154A0 (en) 2003-08-07 2003-08-07 Mutations in ion channels
PCT/AU2004/001051 WO2005014863A1 (en) 2003-08-07 2004-08-06 Mutations in ion channels

Publications (1)

Publication Number Publication Date
CA2534812A1 true CA2534812A1 (en) 2005-02-17

Family

ID=32476443

Family Applications (1)

Application Number Title Priority Date Filing Date
CA002534812A Abandoned CA2534812A1 (en) 2003-08-07 2004-08-06 Mutations in ion channels

Country Status (7)

Country Link
US (1) US8129142B2 (https=)
EP (1) EP1664324A4 (https=)
JP (1) JP2007501601A (https=)
AU (1) AU2003904154A0 (https=)
CA (1) CA2534812A1 (https=)
NZ (1) NZ545185A (https=)
WO (1) WO2005014863A1 (https=)

Families Citing this family (8)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
EP1904630A4 (en) * 2005-06-16 2009-10-21 Bionomics Ltd METHODS OF TREATING AND DIAGNOSING EPILEPSY BY DETECTING MUTATIONS OF THE SCN1A GENE
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
JP2010059077A (ja) * 2008-09-02 2010-03-18 Osaka Univ Dysbindin機能調節用組成物
WO2013130808A1 (en) * 2012-02-29 2013-09-06 D.E. Shaw Research, Llc Methods for screening voltage gated proteins
CN110738599B (zh) * 2019-10-14 2023-04-25 北京百度网讯科技有限公司 图像拼接方法、装置、电子设备及存储介质

Family Cites Families (21)

* Cited by examiner, † Cited by third party
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
DE1252330T1 (de) 1999-11-26 2003-11-27 Mcgill University, Montreal Loci der idiopathischen epilepsie, mutationen derselben und verfahren zu deren verwendung zur feststellung, prognose und behandlung von epilepsie
AUPQ749100A0 (en) 2000-05-12 2000-06-08 Bionomics Limited New epilespy gene
ATE437948T1 (de) 2000-06-20 2009-08-15 Bionomics Ltd Mutation, welche mit epilepsie assoziiert ist
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
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
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
US20030157525A1 (en) * 2001-11-26 2003-08-21 Mintier Gabriel A. Novel human G-protein coupled receptor, HGPRBMY31, and variants and methods of use thereof
AU2003901425A0 (en) * 2003-03-27 2003-04-10 Bionomics Limited A diagnostic method for epilepsy
EP1904630A4 (en) 2005-06-16 2009-10-21 Bionomics Ltd METHODS OF TREATING AND DIAGNOSING EPILEPSY BY DETECTING MUTATIONS OF THE SCN1A GENE

Also Published As

Publication number Publication date
JP2007501601A (ja) 2007-02-01
US8129142B2 (en) 2012-03-06
AU2003904154A0 (en) 2003-08-21
WO2005014863A1 (en) 2005-02-17
EP1664324A4 (en) 2007-07-18
US20090081724A1 (en) 2009-03-26
EP1664324A1 (en) 2006-06-07
NZ545185A (en) 2009-04-30

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Legal Events

Date Code Title Description
EEER Examination request
FZDE Discontinued

Effective date: 20131119