NZ564892A - Methods of treatment, and diagnosis of epilepsy by detecting a D674G mutation in the SCN1A gene - Google Patents
Methods of treatment, and diagnosis of epilepsy by detecting a D674G mutation in the SCN1A geneInfo
- Publication number
- NZ564892A NZ564892A NZ564892A NZ56489206A NZ564892A NZ 564892 A NZ564892 A NZ 564892A NZ 564892 A NZ564892 A NZ 564892A NZ 56489206 A NZ56489206 A NZ 56489206A NZ 564892 A NZ564892 A NZ 564892A
- Authority
- NZ
- New Zealand
- Prior art keywords
- scnla
- smei
- alteration
- epilepsy
- gene
- Prior art date
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)
Applications Claiming Priority (2)
| Application Number | Priority Date | Filing Date | Title |
|---|---|---|---|
| AU2005903146A AU2005903146A0 (en) | 2005-06-16 | Methods for the diagnosis and treatment of epilepsy | |
| 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 |
|---|---|
| NZ564892A true NZ564892A (en) | 2011-10-28 |
Family
ID=37531886
Family Applications (1)
| Application Number | Title | Priority Date | Filing Date |
|---|---|---|---|
| NZ564892A NZ564892A (en) | 2005-06-16 | 2006-06-16 | Methods of treatment, and diagnosis of epilepsy by detecting a D674G mutation 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) |
Families Citing this family (45)
| Publication number | Priority date | Publication date | Assignee | Title |
|---|---|---|---|---|
| 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 |
| 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 |
| CA3281817A1 (en) | 2016-11-28 | 2026-03-02 | Praxis Precision Medicines, Inc. | Compounds and their methods of use |
| 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 |
| WO2019227096A1 (en) * | 2018-05-25 | 2019-11-28 | Rogcon U.R., Inc. | Dynamic clamps and methods of use thereof |
| 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 |
| IL309843B2 (en) | 2018-05-30 | 2026-05-01 | Praxis Prec Medicines Inc | History of [4,2,1]triazolo[3,4-a]pyridines and their use as sodium ion channel modulators |
| 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 |
| US11279700B2 (en) | 2019-05-31 | 2022-03-22 | Praxis Precision Medicines, Inc. | Ion channel modulators |
| US11767325B2 (en) | 2019-11-26 | 2023-09-26 | Praxis Precision Medicines, Inc. | Substituted [1,2,4]triazolo[4,3-a]pyrazines as ion channel modulators |
| PE20221280A1 (es) | 2019-11-27 | 2022-09-05 | Praxis Prec Medicines Inc | Formulaciones de moduladores de canales ionicos y metodos de preparacion y uso de moduladores de canales ionicos |
| US12338437B2 (en) | 2020-05-11 | 2025-06-24 | Stoke Therapeutics, Inc. | OPA1 antisense oligomers for treatment of conditions and diseases |
| US11612574B2 (en) | 2020-07-17 | 2023-03-28 | Zogenix International Limited | Method of treating patients infected with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) |
| KR20250005348A (ko) | 2022-04-26 | 2025-01-09 | 프락시스 프리시젼 메디신즈, 인크. | 신경 장애의 치료 |
| CN116024222B (zh) * | 2022-11-30 | 2023-12-22 | 湖南家辉生物技术有限公司 | 一种导致婴儿严重肌阵挛性癫痫的nac1基因突变体及其应用 |
Family Cites Families (16)
| 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 |
| 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 |
| 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 |
| US6703439B2 (en) * | 2000-02-09 | 2004-03-09 | Mitsui Chemicals, Inc. | Polyolefin resin composition and polyolefin film prepared from the same |
| 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 |
| EP1407013B1 (en) * | 2001-07-18 | 2007-09-12 | 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 |
| 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 |
-
2006
- 2006-06-16 US US11/922,377 patent/US20100088778A1/en not_active Abandoned
- 2006-06-16 EP EP06741247A patent/EP1904630A4/en not_active Ceased
- 2006-06-16 JP JP2008516076A patent/JP2008546376A/ja active Pending
- 2006-06-16 CA CA002612180A patent/CA2612180A1/en not_active Abandoned
- 2006-06-16 NZ NZ564892A patent/NZ564892A/en not_active IP Right Cessation
- 2006-06-16 WO PCT/AU2006/000841 patent/WO2006133508A1/en not_active Ceased
Also Published As
| Publication number | Publication date |
|---|---|
| EP1904630A4 (en) | 2009-10-21 |
| WO2006133508A1 (en) | 2006-12-21 |
| US20100088778A1 (en) | 2010-04-08 |
| CA2612180A1 (en) | 2006-12-21 |
| JP2008546376A (ja) | 2008-12-25 |
| EP1904630A1 (en) | 2008-04-02 |
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Legal Events
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