CA2612180A1 - Methods of treatment, and diagnosis of epilepsy by detecting mutations in the scn1a gene - Google Patents

Methods of treatment, and diagnosis of epilepsy by detecting mutations in the scn1a gene Download PDF

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Publication number
CA2612180A1
CA2612180A1 CA002612180A CA2612180A CA2612180A1 CA 2612180 A1 CA2612180 A1 CA 2612180A1 CA 002612180 A CA002612180 A CA 002612180A CA 2612180 A CA2612180 A CA 2612180A CA 2612180 A1 CA2612180 A1 CA 2612180A1
Authority
CA
Canada
Prior art keywords
smei
alteration
scn1a
epilepsy
related syndrome
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
CA002612180A
Other languages
English (en)
French (fr)
Inventor
John Charles Mulley
Louise Harkin
Samuel Frank Berkovic
Ingrid Eileen Scheffer
Steven Petrou
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 AU2005903146A external-priority patent/AU2005903146A0/en
Application filed by Individual filed Critical Individual
Publication of CA2612180A1 publication Critical patent/CA2612180A1/en
Abandoned legal-status Critical Current

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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N33/00—Investigating or analysing materials by specific methods not covered by groups G01N1/00 - G01N31/00
    • G01N33/48—Biological material, e.g. blood, urine; Haemocytometers
    • G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
    • G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
    • G01N33/6872—Intracellular protein regulatory factors and their receptors, e.g. including ion channels
    • 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
    • C12Q2600/136—Screening for pharmacological compounds
    • 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
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2500/00—Screening for compounds of potential therapeutic value
    • G01N2500/04—Screening involving studying the effect of compounds C directly on molecule A (e.g. C are potential ligands for a receptor A, or potential substrates for an enzyme A)
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/28—Neurological disorders
    • G01N2800/2857—Seizure disorders; Epilepsy

Landscapes

  • Health & Medical Sciences (AREA)
  • Life Sciences & Earth Sciences (AREA)
  • Chemical & Material Sciences (AREA)
  • Organic Chemistry (AREA)
  • Engineering & Computer Science (AREA)
  • Proteomics, Peptides & Aminoacids (AREA)
  • Molecular Biology (AREA)
  • Immunology (AREA)
  • General Health & Medical Sciences (AREA)
  • Genetics & Genomics (AREA)
  • Zoology (AREA)
  • Biochemistry (AREA)
  • Analytical Chemistry (AREA)
  • Cell Biology (AREA)
  • Medicinal Chemistry (AREA)
  • Biomedical Technology (AREA)
  • Microbiology (AREA)
  • Biophysics (AREA)
  • Urology & Nephrology (AREA)
  • Hematology (AREA)
  • Wood Science & Technology (AREA)
  • Biotechnology (AREA)
  • Physics & Mathematics (AREA)
  • Pathology (AREA)
  • Bioinformatics & Cheminformatics (AREA)
  • Food Science & Technology (AREA)
  • Gastroenterology & Hepatology (AREA)
  • General Physics & Mathematics (AREA)
  • General Engineering & Computer Science (AREA)
  • Toxicology (AREA)
  • Animal Behavior & Ethology (AREA)
  • Neurosurgery (AREA)
  • General Chemical & Material Sciences (AREA)
  • Pain & Pain Management (AREA)
  • Pharmacology & Pharmacy (AREA)
  • Neurology (AREA)
  • Chemical Kinetics & Catalysis (AREA)
  • Veterinary Medicine (AREA)
  • Public Health (AREA)
  • Nuclear Medicine, Radiotherapy & Molecular Imaging (AREA)
CA002612180A 2005-06-16 2006-06-16 Methods of treatment, and diagnosis of epilepsy by detecting mutations in the scn1a gene Abandoned CA2612180A1 (en)

Applications Claiming Priority (3)

Application Number Priority Date Filing Date Title
AU2005903146A AU2005903146A0 (en) 2005-06-16 Methods for the diagnosis and treatment of epilepsy
AU2005903146 2005-06-16
PCT/AU2006/000841 WO2006133508A1 (en) 2005-06-16 2006-06-16 Methods of treatment, and diagnosis of epilepsy by detecting mutations in the scn1a gene

Publications (1)

Publication Number Publication Date
CA2612180A1 true CA2612180A1 (en) 2006-12-21

Family

ID=37531886

Family Applications (1)

Application Number Title Priority Date Filing Date
CA002612180A Abandoned CA2612180A1 (en) 2005-06-16 2006-06-16 Methods of treatment, and diagnosis of epilepsy by detecting mutations in the scn1a gene

Country Status (6)

Country Link
US (1) US20100088778A1 (enExample)
EP (1) EP1904630A4 (enExample)
JP (1) JP2008546376A (enExample)
CA (1) CA2612180A1 (enExample)
NZ (1) NZ564892A (enExample)
WO (1) WO2006133508A1 (enExample)

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AU2003901425A0 (en) * 2003-03-27 2003-04-10 Bionomics Limited A diagnostic method for epilepsy
JP5540343B2 (ja) * 2007-11-06 2014-07-02 国立大学法人 岡山大学 小児てんかん患者における急性脳炎または急性脳症の罹患リスク判定データの取得方法およびその利用
JP5608863B2 (ja) * 2007-12-28 2014-10-15 公立大学法人横浜市立大学 新生児期〜乳児期発症の難治性てんかんの検出方法
EP3395832B1 (en) 2009-08-20 2021-11-24 Biosceptre (Aust) Pty Ltd Anti p2x7 receptor antibodies and fragments thereof
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
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
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
TWI734935B (zh) * 2011-06-24 2021-08-01 美商可娜公司 上調電壓門控鈉離子通道第I型α次單元(SCN1A)之表現及/或功能之反義寡核苷酸及其用途
US9549909B2 (en) 2013-05-03 2017-01-24 The Katholieke Universiteit Leuven Method for the treatment of dravet syndrome
BR112017006219A8 (pt) * 2014-09-29 2023-02-14 Zogenix International Ltd Sistema de controle para controle de distribuição de medicamentos
TW201729807A (zh) * 2015-10-30 2017-09-01 Ptc治療公司 用於治療癲癇的方法
CN116059236A (zh) 2015-12-14 2023-05-05 冷泉港实验室 用于治疗常染色体显性精神发育迟滞5型和Dravet综合征的反义寡聚体
US10689324B2 (en) 2015-12-22 2020-06-23 Zogenix International Limited Metabolism resistant fenfluramine analogs and methods of using the same
DK3800177T3 (da) 2015-12-22 2025-03-31 Zogenix International Ltd Fenfluramin-sammensætninger og fremgangsmåder til fremstilling af samme
RU2021106383A (ru) 2016-08-24 2021-04-05 Зодженикс Интернэшнл Лимитед Состав для ингибирования образования агонистов 5-ht2b и способы его применения
WO2018098491A1 (en) 2016-11-28 2018-05-31 Praxis Precision Medicines, Inc. Compounds and their methods of use
WO2018098500A1 (en) * 2016-11-28 2018-05-31 Praxis Precision Medicines, Inc. Compounds and their methods of use
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CN106719436A (zh) * 2016-12-20 2017-05-31 郑州伊美诺生物技术有限公司 一种制备单克隆抗体的小鼠模型建立方法
US11492345B2 (en) 2017-02-13 2022-11-08 Praxis Precision Medicines, Inc. Compounds and their methods of use
WO2018187480A1 (en) 2017-04-04 2018-10-11 Praxis Precision Medicines, Inc. Compounds and their methods of use
WO2018213491A1 (en) * 2017-05-16 2018-11-22 Praxis Precision Medicines, Inc. Methods of treating epilepsy and neurodevelopmental disorders
US11278535B2 (en) 2017-08-15 2022-03-22 Praxis Precision Medicines, Inc. Compounds and their methods of use
KR20260009385A (ko) 2017-08-25 2026-01-19 스톡 테라퓨틱스, 인크. 병태 및 질환 치료용 안티센스 올리고머
US10682317B2 (en) 2017-09-26 2020-06-16 Zogenix International Limited Ketogenic diet compatible fenfluramine formulation
CN111712252A (zh) 2017-12-13 2020-09-25 纽约州立大学研究基金会 用于治疗疼痛和提高疼痛敏感性的肽和其它药剂
CA3097335A1 (en) 2018-05-11 2019-11-14 Zogenix International Limited Compositions and methods for treating seizure-induced sudden death
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EP4465051A3 (en) * 2018-05-29 2025-01-22 Cognizance Biomarkers, Inc. Biomarkers and methods for evaluation and treatment of epileptic vs non-epileptic seizures / no seizures / psychogenic non-epileptic seizures
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CA3110211A1 (en) 2018-08-20 2020-02-27 Rogcon, Inc. Antisense oligonucleotides targeting scn2a for the treatment of scn1a encephalopathies
EA202092908A1 (ru) 2018-09-28 2021-05-14 Праксис Пресижн Медсинз, Инк. Модуляторы ионных каналов
WO2020105005A1 (en) 2018-11-19 2020-05-28 Zogenix International Limited Methods of treating rett syndrome using fenfluramine
KR20210134003A (ko) * 2019-02-27 2021-11-08 스톡 테라퓨틱스, 인크. 병태 및 질환의 치료를 위한 안티센스 올리고머
US11773099B2 (en) 2019-05-28 2023-10-03 Praxis Precision Medicines, Inc. Compounds and their methods of use
US11505554B2 (en) 2019-05-31 2022-11-22 Praxis Precision Medicines, Inc. Substituted pyridines as ion channel modulators
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Also Published As

Publication number Publication date
EP1904630A4 (en) 2009-10-21
NZ564892A (en) 2011-10-28
WO2006133508A1 (en) 2006-12-21
US20100088778A1 (en) 2010-04-08
JP2008546376A (ja) 2008-12-25
EP1904630A1 (en) 2008-04-02

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Effective date: 20150610