CA2307316C - Kcnq2 and kcnq3-potassium channel genes which are mutated in benign familial neonatal convulsions (bfnc) and other epilepsies - Google Patents

Kcnq2 and kcnq3-potassium channel genes which are mutated in benign familial neonatal convulsions (bfnc) and other epilepsies Download PDF

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Publication number
CA2307316C
CA2307316C CA2307316A CA2307316A CA2307316C CA 2307316 C CA2307316 C CA 2307316C CA 2307316 A CA2307316 A CA 2307316A CA 2307316 A CA2307316 A CA 2307316A CA 2307316 C CA2307316 C CA 2307316C
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Canada
Prior art keywords
seq
mutation
kcnq2
nucleotide
nucleotides
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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
CA2307316A
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English (en)
French (fr)
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CA2307316A1 (en
Inventor
Nanda A. Singh
Mark F. Leppert
Carole Charlier
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University of Utah Research Foundation Inc
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University of Utah Research Foundation Inc
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Priority to CA2712809A priority Critical patent/CA2712809C/en
Publication of CA2307316A1 publication Critical patent/CA2307316A1/en
Application granted granted Critical
Publication of CA2307316C publication Critical patent/CA2307316C/en
Anticipated expiration legal-status Critical
Expired - Lifetime legal-status Critical Current

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    • 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
    • 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
    • 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
    • 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

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)
  • Immunology (AREA)
  • Wood Science & Technology (AREA)
  • Analytical Chemistry (AREA)
  • Molecular Biology (AREA)
  • Biophysics (AREA)
  • Medicinal Chemistry (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Pathology (AREA)
  • Toxicology (AREA)
  • General Engineering & Computer Science (AREA)
  • Gastroenterology & Hepatology (AREA)
  • Microbiology (AREA)
  • Biotechnology (AREA)
  • Cell Biology (AREA)
  • Physics & Mathematics (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
  • Public Health (AREA)
  • Veterinary Medicine (AREA)
  • General Chemical & Material Sciences (AREA)
  • Animal Behavior & Ethology (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Neurology (AREA)
  • Biomedical Technology (AREA)
  • Pain & Pain Management (AREA)
  • Neurosurgery (AREA)
  • Measuring Or Testing Involving Enzymes Or Micro-Organisms (AREA)
  • Micro-Organisms Or Cultivation Processes Thereof (AREA)
  • Peptides Or Proteins (AREA)
  • Investigating Or Analysing Biological Materials (AREA)
CA2307316A 1997-10-24 1998-10-23 Kcnq2 and kcnq3-potassium channel genes which are mutated in benign familial neonatal convulsions (bfnc) and other epilepsies Expired - Lifetime CA2307316C (en)

Priority Applications (1)

Application Number Priority Date Filing Date Title
CA2712809A CA2712809C (en) 1997-10-24 1998-10-23 Kcnq2 and kcnq3-potassium channel genes which are mutated in benign familial neonatal convulsions (bfnc) and other epilepsies

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
US6314797P 1997-10-24 1997-10-24
US60/063,147 1997-10-24
PCT/US1998/022375 WO1999021875A1 (en) 1997-10-24 1998-10-23 Kcnq2 and kcnq3-potassium channel genes which are mutated in benign familial neonatal convulsions (bfnc) and other epilepsies

Related Child Applications (1)

Application Number Title Priority Date Filing Date
CA2712809A Division CA2712809C (en) 1997-10-24 1998-10-23 Kcnq2 and kcnq3-potassium channel genes which are mutated in benign familial neonatal convulsions (bfnc) and other epilepsies

Publications (2)

Publication Number Publication Date
CA2307316A1 CA2307316A1 (en) 1999-05-06
CA2307316C true CA2307316C (en) 2010-12-21

Family

ID=22047238

Family Applications (1)

Application Number Title Priority Date Filing Date
CA2307316A Expired - Lifetime CA2307316C (en) 1997-10-24 1998-10-23 Kcnq2 and kcnq3-potassium channel genes which are mutated in benign familial neonatal convulsions (bfnc) and other epilepsies

Country Status (5)

Country Link
US (3) US6413719B1 (enExample)
EP (1) EP1037900A4 (enExample)
JP (3) JP4520634B2 (enExample)
CA (1) CA2307316C (enExample)
WO (1) WO1999021875A1 (enExample)

Families Citing this family (21)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
ES2281129T3 (es) 1997-08-12 2007-09-16 Bristol-Myers Squibb Company Canales de potasio kcnq y procedimientos para su modulacion.
US6413719B1 (en) * 1997-10-24 2002-07-02 University Of Utah Research Foundation KCNQ2 and KCNQ3-potassium channel genes which are mutated in benign familial neonatal convulsions (BFNC) and other epilepsies
DK1147134T3 (da) * 1999-01-26 2007-02-05 Neurosearch As Hidtil ukendte kaliumkanaler og gener, der koder for disse kaliumkanaler
US6794161B1 (en) 1999-01-26 2004-09-21 Neurosearch A/S Potassium channels and genes encoding these potassium channels
AU4911000A (en) * 1999-06-11 2001-01-02 Neurosearch A/S Novel potassium channels and genes encoding these potassium channels
US6649371B1 (en) 1999-06-11 2003-11-18 Neurosearch A/S Potassium channel KCNQ5 and sequences encoding the same
GB9915414D0 (en) * 1999-07-01 1999-09-01 Glaxo Group Ltd Medical use
US6472165B1 (en) 1999-08-03 2002-10-29 Arzneimittelwerk Dresden Gmbh Modulatory binding site in potassium channels for screening and finding new active ingredients
EP1200086A4 (en) * 1999-08-04 2009-05-27 Icagen Inc THERAPEUTIC OR PROPHYLACTIC METHODS OF PAIN AND ANXIETY
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
US6617131B2 (en) 2000-03-21 2003-09-09 Aventis Pharma Deutschland Gmbh Nucleic acid molecule encoding the potassium channel protein, KCNQ5
DE10013732A1 (de) * 2000-03-21 2001-09-27 Aventis Pharma Gmbh Das Kaliumkanalprotein KCNQ5, ein neuer Angriffspunkt bei Erkrankungen des zentralen Nervensystems und des Herz-Kreislauf-Systems
US6348486B1 (en) * 2000-10-17 2002-02-19 American Home Products Corporation Methods for modulating bladder function
US7537928B2 (en) * 2003-08-22 2009-05-26 Masonic Medical Research Laboratory Mutations in ion channel proteins associated with sudden cardiac death
WO2005035784A1 (en) * 2003-10-13 2005-04-21 Bionomics Limited A diagnostic method for neonatal or infantile epilepsy syndromes
WO2006096648A2 (en) * 2005-03-07 2006-09-14 University Of Utah Research Foundation Mouse model
KR102361394B1 (ko) * 2017-12-28 2022-02-14 재단법인 대구경북과학기술원 뇌전증과 관련된 miRNA 및 그의 용도
KR102248910B1 (ko) * 2017-12-28 2021-05-06 재단법인대구경북과학기술원 뇌전증과 관련된 miRNA 및 그의 용도
CN111499758B (zh) * 2019-01-31 2023-01-31 中国科学院脑科学与智能技术卓越创新中心 筛选人钾离子通道调节剂的方法
IL328371A (en) * 2019-09-17 2026-07-01 Knopp Biosciences Llc Usage methods for KV7 channel operators
WO2021178769A1 (en) * 2020-03-06 2021-09-10 Ionis Pharmaceuticals, Inc. Compounds and methods for modulating kcnq2

Family Cites Families (9)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
US5833975A (en) 1989-03-08 1998-11-10 Virogenetics Corporation Canarypox virus expressing cytokine and/or tumor-associated antigen DNA sequence
US4675285A (en) * 1984-09-19 1987-06-23 Genetics Institute, Inc. Method for identification and isolation of DNA encoding a desired protein
JPH09502614A (ja) 1993-09-14 1997-03-18 メルク エンド カンパニー インコーポレーテッド 新規ヒト蛋白質チロシンホスファターゼをコードするcDNA
JP3619282B2 (ja) 1994-04-01 2005-02-09 中外製薬株式会社 IgGFc部結合タンパク質をコードする遺伝子
ES2325820T3 (es) * 1995-12-22 2009-09-18 University Of Utah Research Foundation Gen del sindrome qt largo que codifica kvlqt1 y su asociacion con mink.
JPH09191882A (ja) * 1996-01-16 1997-07-29 Japan Tobacco Inc ヒト新規k+チャネル蛋白質をコードするdnaおよびその断片
ES2281129T3 (es) * 1997-08-12 2007-09-16 Bristol-Myers Squibb Company Canales de potasio kcnq y procedimientos para su modulacion.
US6413719B1 (en) 1997-10-24 2002-07-02 University Of Utah Research Foundation KCNQ2 and KCNQ3-potassium channel genes which are mutated in benign familial neonatal convulsions (BFNC) and other epilepsies
GB9726339D0 (en) * 1997-12-13 1998-02-11 Zeneca Ltd Human-derived tissue-specific potassium channel

Also Published As

Publication number Publication date
US20070254297A1 (en) 2007-11-01
JP2001521041A (ja) 2001-11-06
WO1999021875A1 (en) 1999-05-06
WO1999021875A9 (en) 1999-08-12
EP1037900A1 (en) 2000-09-27
JP5328603B2 (ja) 2013-10-30
CA2307316A1 (en) 1999-05-06
US20030165874A1 (en) 2003-09-04
US6413719B1 (en) 2002-07-02
US7214483B2 (en) 2007-05-08
JP4520634B2 (ja) 2010-08-11
JP2010075182A (ja) 2010-04-08
US9523127B2 (en) 2016-12-20
EP1037900A4 (en) 2006-08-30
JP2013226146A (ja) 2013-11-07
JP5911823B2 (ja) 2016-04-27

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