NZ542202A - Methods for the diagnosis and treatment of epilepsy - Google Patents
Methods for the diagnosis and treatment of epilepsyInfo
- Publication number
- NZ542202A NZ542202A NZ542202A NZ54220204A NZ542202A NZ 542202 A NZ542202 A NZ 542202A NZ 542202 A NZ542202 A NZ 542202A NZ 54220204 A NZ54220204 A NZ 54220204A NZ 542202 A NZ542202 A NZ 542202A
- Authority
- NZ
- New Zealand
- Prior art keywords
- smei
- missense
- scnla
- gene
- patient
- Prior art date
Links
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- 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
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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
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| PCT/AU2004/000295 WO2004085674A1 (en) | 2003-03-27 | 2004-03-10 | Methods for the diagnosis and treatment of epilepsy |
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| 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 |
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| 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 |
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2003
- 2003-03-27 AU AU2003901425A patent/AU2003901425A0/en not_active Abandoned
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2004
- 2004-03-10 CA CA2520271A patent/CA2520271C/en not_active Expired - Lifetime
- 2004-03-10 NZ NZ542202A patent/NZ542202A/en not_active IP Right Cessation
- 2004-03-10 WO PCT/AU2004/000295 patent/WO2004085674A1/en not_active Ceased
- 2004-03-10 EP EP04718885.9A patent/EP1606418B1/en not_active Expired - Lifetime
- 2004-03-10 DK DK04718885.9T patent/DK1606418T3/da active
- 2004-03-10 ES ES04718885.9T patent/ES2478624T3/es not_active Expired - Lifetime
- 2004-03-10 JP JP2006503959A patent/JP2006524490A/ja active Pending
- 2004-03-23 US US10/806,899 patent/US7723027B2/en not_active Expired - Lifetime
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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 |
| 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 |
| CA2520271C (en) | 2014-09-23 |
| US20100203548A1 (en) | 2010-08-12 |
| EP1606418A1 (en) | 2005-12-21 |
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