NZ542202A - Methods for the diagnosis and treatment of epilepsy - Google Patents

Methods for the diagnosis and treatment of epilepsy

Info

Publication number
NZ542202A
NZ542202A NZ542202A NZ54220204A NZ542202A NZ 542202 A NZ542202 A NZ 542202A NZ 542202 A NZ542202 A NZ 542202A NZ 54220204 A NZ54220204 A NZ 54220204A NZ 542202 A NZ542202 A NZ 542202A
Authority
NZ
New Zealand
Prior art keywords
smei
missense
scnla
gene
patient
Prior art date
Application number
NZ542202A
Other languages
English (en)
Inventor
Steven Petrou
Samuel Frank Berkovic
Ingrid Ellen Scheffer
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
Application filed by Bionomics Ltd filed Critical Bionomics Ltd
Publication of NZ542202A publication Critical patent/NZ542202A/en

Links

Classifications

    • 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
    • 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
    • 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
    • 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

Landscapes

  • Health & Medical Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Organic Chemistry (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Engineering & Computer Science (AREA)
  • General Health & Medical Sciences (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Immunology (AREA)
  • Molecular Biology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Cell Biology (AREA)
  • Biotechnology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Pathology (AREA)
  • Toxicology (AREA)
  • General Engineering & Computer Science (AREA)
  • Physics & Mathematics (AREA)
  • Microbiology (AREA)
  • Neurology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Neurosurgery (AREA)
  • Veterinary Medicine (AREA)
  • Biomedical Technology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Pain & Pain Management (AREA)
  • General Chemical & Material Sciences (AREA)
  • Public Health (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Pharmaceuticals Containing Other Organic And Inorganic Compounds (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
NZ542202A 2003-03-27 2004-03-10 Methods for the diagnosis and treatment of epilepsy NZ542202A (en)

Applications Claiming Priority (2)

Application Number Priority Date Filing Date Title
AU2003901425A AU2003901425A0 (en) 2003-03-27 2003-03-27 A diagnostic method for epilepsy
PCT/AU2004/000295 WO2004085674A1 (en) 2003-03-27 2004-03-10 Methods for the diagnosis and treatment of epilepsy

Publications (1)

Publication Number Publication Date
NZ542202A true NZ542202A (en) 2009-07-31

Family

ID=31500468

Family Applications (1)

Application Number Title Priority Date Filing Date
NZ542202A NZ542202A (en) 2003-03-27 2004-03-10 Methods for the diagnosis and treatment of epilepsy

Country Status (9)

Country Link
US (2) US7723027B2 (enExample)
EP (1) EP1606418B1 (enExample)
JP (1) JP2006524490A (enExample)
AU (1) AU2003901425A0 (enExample)
CA (1) CA2520271C (enExample)
DK (1) DK1606418T3 (enExample)
ES (1) ES2478624T3 (enExample)
NZ (1) NZ542202A (enExample)
WO (1) WO2004085674A1 (enExample)

Families Citing this family (12)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
AUPR220300A0 (en) 2000-12-20 2001-01-25 Bionomics Limited New epilepsy gene
AU2003904154A0 (en) * 2003-08-07 2003-08-21 Bionomics Limited Mutations in ion channels
US7709225B2 (en) * 2001-07-18 2010-05-04 Bionomics Limited Nucleic acids encoding mutations in sodium channels related to epilepsy
EP1407013B1 (en) 2001-07-18 2007-09-12 Bionomics Limited Mutations in ion channels
AU2003901425A0 (en) 2003-03-27 2003-04-10 Bionomics Limited A diagnostic method for epilepsy
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
US20090304747A1 (en) * 2006-05-16 2009-12-10 Mayo Foundation For Medical Education And Research Use of dmso and botulinum toxin therapy for urinary incontinence and related disorders
US20130036482A1 (en) 2010-01-29 2013-02-07 National University Corporation Okayama University Method for assessment of potential for development of dravet syndrome and use thereof
CN109112126B (zh) 2010-06-23 2024-06-14 库尔纳公司 通过抑制电压门控钠通道α亚基(SCNA)的天然反义转录物而治疗SCNA相关疾病
TW201729807A (zh) * 2015-10-30 2017-09-01 Ｐｔｃ治療公司 用於治療癲癇的方法
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
CN113197585B (zh) * 2021-04-01 2022-02-18 燕山大学 一种神经肌肉信息交互模型构建及参数辨识优化方法

Family Cites Families (22)

* 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
AU1846501A (en) * 1999-11-26 2001-06-04 Bionomics Limited Loci for idiopathic generalized epilepsy, mutations thereof and method using same to assess, diagnose, prognose or treat epilepsy
US6331573B1 (en) * 2000-02-29 2001-12-18 Chevron U.S.A. Inc. Increased liquid sensitivity during fischer-tropsch synthesis by olefin incorporation
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
US7709225B2 (en) * 2001-07-18 2010-05-04 Bionomics Limited Nucleic acids encoding mutations in sodium channels related to epilepsy
EP1407013B1 (en) * 2001-07-18 2007-09-12 Bionomics Limited Mutations in ion channels
AU2003904154A0 (en) 2003-08-07 2003-08-21 Bionomics Limited Mutations in ion channels
US7282336B2 (en) * 2001-07-18 2007-10-16 Bionomics Limited Method of diagnosing epilepsy
AU2002351175A1 (en) * 2001-11-26 2003-06-10 Bristol-Myers Squibb Company 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
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

Also Published As

Publication number Publication date
EP1606418B1 (en) 2014-05-07
WO2004085674A1 (en) 2004-10-07
CA2520271C (en) 2014-09-23
US20100203548A1 (en) 2010-08-12
AU2003901425A0 (en) 2003-04-10
US8288096B2 (en) 2012-10-16
CA2520271A1 (en) 2004-10-07
DK1606418T3 (da) 2014-07-14
US7723027B2 (en) 2010-05-25
ES2478624T3 (es) 2014-07-22
JP2006524490A (ja) 2006-11-02
EP1606418A4 (en) 2006-11-22
EP1606418A1 (en) 2005-12-21
US20040229257A1 (en) 2004-11-18

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Publication Publication Date Title
US8288096B2 (en) Diagnostic method for epilepsy
US20100088778A1 (en) Methods of Treatment, and Diagnosis of Epilepsy by Detecting Mutations in the SCN1A Gene
US7989182B2 (en) Nucleic acid encoding SCN1A variant
US20040096886A1 (en) Loci for idiopathic generalized epilepsy, mutations thereof and method using same to assess, diagnose, prognose or treat epilepsy
EP1767638A2 (en) Mutation associated with epilepsy
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