JP2008546376A5 - - Google Patents

Download PDF

Info

Publication number
JP2008546376A5
JP2008546376A5 JP2008516076A JP2008516076A JP2008546376A5 JP 2008546376 A5 JP2008546376 A5 JP 2008546376A5 JP 2008516076 A JP2008516076 A JP 2008516076A JP 2008516076 A JP2008516076 A JP 2008516076A JP 2008546376 A5 JP2008546376 A5 JP 2008546376A5
Authority
JP
Japan
Prior art keywords
seq
nucleic acid
acid molecule
change
epilepsy
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.)
Pending
Application number
JP2008516076A
Other languages
English (en)
Japanese (ja)
Other versions
JP2008546376A (ja
Filing date
Publication date
Application filed filed Critical
Priority claimed from PCT/AU2006/000841 external-priority patent/WO2006133508A1/en
Publication of JP2008546376A publication Critical patent/JP2008546376A/ja
Publication of JP2008546376A5 publication Critical patent/JP2008546376A5/ja
Pending legal-status Critical Current

Links

JP2008516076A 2005-06-16 2006-06-16 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 Pending JP2008546376A (ja)

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 (2)

Publication Number Publication Date
JP2008546376A JP2008546376A (ja) 2008-12-25
JP2008546376A5 true JP2008546376A5 (enExample) 2009-07-30

Family

ID=37531886

Family Applications (1)

Application Number Title Priority Date Filing Date
JP2008516076A Pending JP2008546376A (ja) 2005-06-16 2006-06-16 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

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)

* Cited by examiner, † Cited by third party
Publication number Priority date Publication date Assignee Title
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
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
WO2009084472A1 (ja) * 2007-12-28 2009-07-09 Public University Corporation Yokohama City University 新生児期~乳児期発症の難治性てんかんの検出方法
JP5936067B2 (ja) 2009-08-20 2016-06-15 バイオセプター・(オーストラリア)・ピーティーワイ・リミテッド 抗p2x7受容体抗体およびその断片
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
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
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
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
SG11201702494UA (en) 2014-09-29 2017-04-27 Zogenix Internat Ltd Control system for control of distribution of medication
HK1251965A1 (zh) * 2015-10-30 2019-05-10 Ptc医疗公司 用於治疗癫痫的方法
ES2882500T3 (es) 2015-12-14 2021-12-02 Cold Spring Harbor Laboratory Oligómeros antisentido para el tratamiento del síndrome de Dravet
JP2019507111A (ja) 2015-12-22 2019-03-14 ゾゲニクス インターナショナル リミテッド 代謝抵抗性フェンフルラミン類縁体およびその使用法
EP3800177B1 (en) 2015-12-22 2025-01-29 Zogenix International Limited Fenfluramine compositions and methods of preparing the same
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
US20210188839A1 (en) * 2016-11-28 2021-06-24 Praxis Precision Medicines, Inc. Compounds and their methods of use
WO2018098499A1 (en) 2016-11-28 2018-05-31 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
WO2018148745A1 (en) 2017-02-13 2018-08-16 Praxis Precision Medicines , Inc. Compounds and their methods of use
US11731966B2 (en) 2017-04-04 2023-08-22 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
WO2019035951A1 (en) 2017-08-15 2019-02-21 Praxis Precision Medicines, Inc. COMPOUNDS AND THEIR METHODS OF USE
SI3673080T1 (sl) 2017-08-25 2024-03-29 Stoke Therapeutics, Inc. Protismiselni oligomeri za zdravljenje bolezenskih stanj in bolezni
US10682317B2 (en) 2017-09-26 2020-06-16 Zogenix International Limited Ketogenic diet compatible fenfluramine formulation
WO2019118779A2 (en) 2017-12-13 2019-06-20 The Research Foundation For The State University Of New York Peptides and other agents for treating pain and increasing pain sensitivity
WO2019216919A1 (en) 2018-05-11 2019-11-14 Zogenix International Limited Compositions and methods for treating seizure-induced sudden death
US12259378B2 (en) 2018-05-25 2025-03-25 Praxis Precision Medicines, 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
EA202191079A1 (ru) 2018-11-19 2021-09-20 Зодженикс Интернэшнл Лимитед Способы лечения синдрома ретта с применением фенфлурамина
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
AU2020392128A1 (en) 2019-11-27 2022-06-09 Praxis Precision Medicines, Inc. Formulations of ion channel modulators and methods of preparation and use of ion channel modulators
BR112022022889A2 (pt) 2020-05-11 2023-04-04 Stoke Therapeutics Inc Oligômeros antissentido de opa1 para tratamento de condições e doenças
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)
CA3250706A1 (en) 2022-04-26 2023-11-02 Praxis Precision Medicines, Inc. TREATMENT OF NEUROLOGICAL DISORDERS
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)

* 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
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
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
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
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

Similar Documents

Publication Publication Date Title
AU2023226698B2 (en) Oligonucleotide probes and uses thereof
AU2023237051B2 (en) Oligonucleotide probes and uses thereof
JP2008249727A5 (enExample)
JP2009533033A5 (enExample)
JP2008546403A5 (enExample)
CN102127819B (zh) Mhc区域核酸文库的构建方法及用途
JP2009523005A5 (enExample)
RU2009135270A (ru) Способы выявления воспалительного заболевания кишечника
WO2014189768A1 (en) Devices and methods for display of encoded peptides, polypeptides, and proteins on dna
CN102220434B (zh) 用于诊断非综合征耳聋的杂交膜条、pcr引物及试剂盒
Devarajan Genomic and proteomic characterization of acute kidney injury
JP2005537007A5 (enExample)
JP2009518001A5 (enExample)
WO2016042114A1 (en) Cxcl14 as a biomarker of hedgehog pathway activity for the diagnosis, prognosis and treatment of idiopathic pulmonary fibrosis
JP2022514924A5 (enExample)
CN105886605B (zh) Pkd2基因突变检测的扩增引物及检测方法
CN105803054A (zh) 试剂盒及其在检测唇腭裂相关基因中的用途
JP2005507648A5 (enExample)
JP2012507291A5 (enExample)
US20180263556A1 (en) Method of predicting rapid progression of fibrosis and therapy and reagents therefor
JP2004201692A5 (enExample)
WO2011014989A1 (zh) 靶向结核分枝杆菌Ag85B的寡核苷酸适配子及其制备方法和应用
JP2004290197A5 (enExample)
JP2009511026A5 (enExample)
CN102296105A (zh) 一种检测mlh1基因突变的方法及其试剂盒