CA2520271C - Methods for the diagnosis and treatment of epilepsy - Google Patents

Methods for the diagnosis and treatment of epilepsy Download PDF

Info

Publication number
CA2520271C
CA2520271C CA2520271A CA2520271A CA2520271C CA 2520271 C CA2520271 C CA 2520271C CA 2520271 A CA2520271 A CA 2520271A CA 2520271 A CA2520271 A CA 2520271A CA 2520271 C CA2520271 C CA 2520271C
Authority
CA
Canada
Prior art keywords
fwdarw
smei
scn1a
nucleic acid
subject
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
Application number
CA2520271A
Other languages
English (en)
French (fr)
Other versions
CA2520271A1 (en
Inventor
Steven Petrou
Samuel Frank Berkovic
Ingrid Eileen Scheffer
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
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 CA2520271A1 publication Critical patent/CA2520271A1/en
Application granted granted Critical
Publication of CA2520271C publication Critical patent/CA2520271C/en
Anticipated expiration legal-status Critical
Expired - Lifetime legal-status Critical Current

Links

Classifications

    • 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
    • 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
    • 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)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • General Health & Medical Sciences (AREA)
  • Engineering & Computer Science (AREA)
  • Biochemistry (AREA)
  • Biophysics (AREA)
  • Immunology (AREA)
  • Wood Science & Technology (AREA)
  • Molecular Biology (AREA)
  • Analytical Chemistry (AREA)
  • Medicinal Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Microbiology (AREA)
  • Pathology (AREA)
  • Cell Biology (AREA)
  • General Engineering & Computer Science (AREA)
  • Toxicology (AREA)
  • Biotechnology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Physics & Mathematics (AREA)
  • Neurology (AREA)
  • Pain & Pain Management (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Neurosurgery (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Veterinary Medicine (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Animal Behavior & Ethology (AREA)
  • Biomedical Technology (AREA)
  • General Chemical & Material Sciences (AREA)
  • Public Health (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Medicines That Contain Protein Lipid Enzymes And Other Medicines (AREA)
  • Medicines Containing Antibodies Or Antigens For Use As Internal Diagnostic Agents (AREA)
  • Peptides Or Proteins (AREA)
CA2520271A 2003-03-27 2004-03-10 Methods for the diagnosis and treatment of epilepsy Expired - Lifetime CA2520271C (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
AU2003901425A AU2003901425A0 (en) 2003-03-27 2003-03-27 A diagnostic method for epilepsy
AU2003901425 2003-03-27
PCT/AU2004/000295 WO2004085674A1 (en) 2003-03-27 2004-03-10 Methods for the diagnosis and treatment of epilepsy

Publications (2)

Publication Number Publication Date
CA2520271A1 CA2520271A1 (en) 2004-10-07
CA2520271C true CA2520271C (en) 2014-09-23

Family

ID=31500468

Family Applications (1)

Application Number Title Priority Date Filing Date
CA2520271A Expired - Lifetime CA2520271C (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
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
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
AU2003901425A0 (en) 2003-03-27 2003-04-10 Bionomics Limited A diagnostic method for epilepsy
JP2008546376A (ja) * 2005-06-16 2008-12-25 バイオノミックス リミテッド Scn1a遺伝子における変異を検出することによっててんかんを診断および処置するための方法
WO2008030638A2 (en) * 2006-05-16 2008-03-13 Mayo Foundation For Medical Education And Research Use of dmso and botulinum toxin therapy for urinary incontinence and related disorders
WO2011093393A1 (ja) 2010-01-29 2011-08-04 国立大学法人岡山大学 Dravet症候群の発症可能性の判定方法およびその利用
KR101914309B1 (ko) 2010-06-23 2018-11-02 큐알엔에이, 인크. 전압 작동 나트륨 통로, 알파 소단위(scna)에 대한 자연 안티센스 전사체의 저해에 의한 전압 작동 나트륨 통로, 알파 소단위(scna) 관련된 질환의 치료
HK1251965A1 (zh) * 2015-10-30 2019-05-10 Ptc医疗公司 用於治疗癫痫的方法
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
NZ522888A (en) 2000-06-20 2005-01-28 Bionomics Ltd Mutations in the gamma aminobutyric acid type A receptor subunit ( GABA A ) associated with epilepsy
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
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
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
EP1474176A4 (en) * 2001-11-26 2005-06-15 Bristol Myers Squibb Co HUMAN G PROTEIN-COUPLED RECEPTOR, HGPRBMY31, VARIANTS AND METHODS OF USING THE SAME
AU2003901425A0 (en) * 2003-03-27 2003-04-10 Bionomics Limited A diagnostic method for epilepsy
JP2008546376A (ja) * 2005-06-16 2008-12-25 バイオノミックス リミテッド Scn1a遺伝子における変異を検出することによっててんかんを診断および処置するための方法

Also Published As

Publication number Publication date
ES2478624T3 (es) 2014-07-22
US8288096B2 (en) 2012-10-16
US20040229257A1 (en) 2004-11-18
JP2006524490A (ja) 2006-11-02
AU2003901425A0 (en) 2003-04-10
NZ542202A (en) 2009-07-31
EP1606418A4 (en) 2006-11-22
CA2520271A1 (en) 2004-10-07
WO2004085674A1 (en) 2004-10-07
DK1606418T3 (da) 2014-07-14
EP1606418B1 (en) 2014-05-07
US7723027B2 (en) 2010-05-25
US20100203548A1 (en) 2010-08-12
EP1606418A1 (en) 2005-12-21

Similar Documents

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
US20040214195A1 (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
US8129142B2 (en) Mutations in ion channels
AU2004200978B2 (en) A diagnostic method for epilepsy
EP1385945A1 (en) Novel mutation
WO2005024024A1 (en) Mutations in the nedd4 gene family in epilepsy and other cns disorders
AU2006257716B2 (en) Methods of treatment, and diagnosis of epilepsy by detecting mutations in the SCN1A gene
AU2007202499B2 (en) Mutations in ion channels
AU2004263548B2 (en) Mutations in ion channels
WO2004053128A1 (en) Mutations in gaba-b receptor 1 associated with epilepsy
AU2002252833A1 (en) Novel mutation

Legal Events

Date Code Title Description
EEER Examination request
MKEX Expiry

Effective date: 20240311