专利快速检索-快速检索全球专利，免费商用专利数据库-IPRDB

1. 发明申请

US20110104665A1 MUTANT SODIUM CHANNEL NAV 1.7 AND METHODS RELATED THERETO 审中-公开
标题翻译：突变体钠通道NAV 1.7及其相关方法
公开(公告)号：US20110104665A1
公开(公告)日：2011-05-05
申请号：US12536245
申请日：2009-08-05
申请人： Mark F. Leppert , Nanda A. Singh
发明人： Mark F. Leppert , Nanda A. Singh
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C07K14/705 , C12Q2600/156 , C12Q2600/172 , Y10T436/143333
摘要： Described are mutant Nav1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Nav1 sodium channel alpha-subunit, methods for determining a Nav1.7 haplotype, methods for determining a subject's predisposition to a neurologic disorder associated with a sodium channel mutation, and methods of identifying a compound that modulates mutant Nav1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Nav1.7 sodium channels are also described herein.
摘要翻译：描述了突变型Nav1.7钠通道α-亚基和编码这种突变体的核酸序列。还描述了用于表征编码Nav1钠通道α-亚基的核酸序列的方法，用于确定Nav1.7单元型的方法，用于确定受试者对与钠通道突变相关的神经障碍的倾向的方法，以及鉴定一种调节突变型Nav1.7钠通道的化合物。本文还描述了与突变型Nav1.7钠通道相关的其它材料，组合物，制品，装置和方法。

2. 发明授权

US07214483B2 KCNQ2 and KCNQ3—potassium channel genes which are mutated in benign familial neonatal convulsions (BFNC) and other epilepsies 有权
标题翻译：在良性家族性新生儿惊厥（BFNC）和其他癫痫中突变的KCNQ2和KCNQ3-钾通道基因
公开(公告)号：US07214483B2
公开(公告)日：2007-05-08
申请号：US10096578
申请日：2002-03-14
申请人： Nanda A. Singh , Mark F. Leppert , Carole Charlier
发明人： Nanda A. Singh , Mark F. Leppert , Carole Charlier
IPC分类号： C12Q1/68 , C12P19/34 , C07H21/02 , C07H21/04 , C12P21/06
CPC分类号： C12Q1/6883 , A01K2217/05 , C07K14/705 , C12Q2600/156
摘要： Generalized idiopathic epilepsies (IGE) cause 40% of all seizures and commonly have a genetic basis. One type of IGE is Benign Familial Neonatal Convulsions (BFNC), a dominantly inherited disorder of newborns. A submicroscopic deletion of chromosome 20q13.3 which co-segregates with seizures in a BFNC family has been identified. Characterization of cDNAs spanning the deleted region identified a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KCNQ1-like class of potassium channels. Nine other BFNC probands were shown to have KCNQ2 mutations including three missense mutations, three frameshifts, two nonsense mutations, and one splice site mutation. A second gene, KCNQ3, was found in a separate BFNC family in which the mutation had been localized to chromosome 8. A missense mutation was found in this gene in perfect cosegregation with the BFNC phenotype in this latter family. This demonstrates that defects in potassium channels can cause epilepsy. Furthermore, some members of one of the BFNC families with a mutation in KCNQ2 also exhibited rolandic epilepsy and one individual with juvenile myoclonic epilepsy has a mutation in an alternative exon of KCNQ3.
摘要翻译：广泛性特发性癫痫（IGE）引起全部癫痫发作的40％，通常具有遗传依据。一种类型的IGE是良性的家族性新生儿惊厥（BFNC），这是新生儿的主要遗传性疾病。已经鉴定出与BFNC家族中的癫痫发作共分离的染色体20q13.3的亚显微缺失。跨越缺失区的cDNA的鉴定鉴定出新型的电压门控钾通道KCNQ2，其属于新的KCNQ1样类钾通道。其他九个BFNC先证者显示有KCNQ2突变，包括三个错义突变，三个突变，两个无义突变和一个剪接位点突变。第二个基因KCNQ3被发现在一个单独的BFNC家族中，其突变已经定位于染色体8上。在该基因中发现了与该后一种家族中BFNC表型完全共同作用的错义突变。这表明钾通道缺陷可引起癫痫。此外，KCNQ2突变的一个BFNC家族中的一些成员也表现为脊髓性癫痫，一个患有青少年肌阵挛性癫痫的个体在KCNQ3的替代外显子中具有突变。

3. 发明授权

US09523127B2 KCNQ2 and KCNQ3—potassium channel genes which are mutated in benign familial neonatal convulsions (BFNC) and other epilepsies 有权
标题翻译：在良性家族性新生儿惊厥（BFNC）和其他癫痫中突变的KCNQ2和KCNQ3-钾通道基因
公开(公告)号：US09523127B2
公开(公告)日：2016-12-20
申请号：US11702218
申请日：2007-02-05
申请人： Nanda A. Singh , Mark F. Leppert , Carole Charlier
发明人： Nanda A. Singh , Mark F. Leppert , Carole Charlier
IPC分类号： C12Q1/68 , C07K14/705
CPC分类号： C12Q1/6883 , A01K2217/05 , C07K14/705 , C12Q2600/156
摘要： Generalized idiopathic epilepsies (IGE) cause 40% of all seizures and commonly have a genetic basis. One type of IGE is Benign Familial Neonatal Convulsions (BFNC), a dominantly inherited disorder of newborns. A submicroscopic deletion of chromosome 20q13.3 which co-segregates with seizures in a BFNC family has been identified. Characterization of cDNAs spanning the deleted region identified a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KCNQ1-like class of potassium channels. Nine other BFNC probands were shown to have KCNQ2 mutations including three missense mutations, three frameshifts, two nonsense mutations, and one splice site mutation. A second gene, KCNQ3, was found in a separate BFNC family in which the mutation had been localized to chromosome 8. A missense mutation was found in this gene in perfect cosegregation with the BFNC phenotype in this latter family. This demonstrates that defects in potassium channels can cause epilepsy. Furthermore, some members of one of the BFNC families with a mutation in KCNQ2 also exhibited rolandic epilepsy and one individual with juvenile myoclonic epilepsy has a mutation in an alternative exon of KCNQ3.
摘要翻译：广泛性特发性癫痫（IGE）引起全部癫痫发作的40％，通常具有遗传依据。一种类型的IGE是良性的家族性新生儿惊厥（BFNC），这是新生儿的主要遗传性疾病。已经鉴定出与BFNC家族中的癫痫发作共分离的染色体20q13.3的亚显微缺失。跨越缺失区的cDNA的鉴定鉴定出新型的电压门控钾通道KCNQ2，其属于新的KCNQ1样类钾通道。其他九个BFNC先证者显示有KCNQ2突变，包括三个错义突变，三个突变，两个无义突变和一个剪接位点突变。第二个基因KCNQ3被发现在一个单独的BFNC家族中，其突变已经定位于染色体8上。在该基因中发现了与该后一种家族中BFNC表型完全共同作用的错义突变。这表明钾通道缺陷可引起癫痫。此外，KCNQ2突变的一个BFNC家族中的一些成员也表现为脊髓性癫痫，一个患有青少年肌阵挛性癫痫的个体在KCNQ3的替代外显子中具有突变。

4. 发明申请

US20140165219A1 MUTANT SODIUM CHANNEL Nav1.7 AND METHODS RELATED THERETO 有权
标题翻译： MUTANT SODIUM CHANNEL Nav1.7及其相关方法
公开(公告)号：US20140165219A1
公开(公告)日：2014-06-12
申请号：US13967306
申请日：2013-08-14
申请人： Mark F. Leppert , Nanda A. Singh
发明人： Mark F. Leppert , Nanda A. Singh
IPC分类号： C07K14/47 , A01K67/027
CPC分类号： C07K14/47 , A01K67/0275 , C07K14/705 , C12N15/85 , C12Q1/6883 , C12Q2600/106 , C12Q2600/136 , C12Q2600/156 , C12Q2600/172
摘要： Described are mutant Nav1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Nav1.7 sodium channel alpha-subunit, methods for determining a Nav1.7 haplotype, methods for determining a subject's predisposition to a neurologic disorder associated with a sodium channel mutation, and methods of identifying a compound that modulates mutant Nav1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Nav1.7 sodium channels are also described herein.
摘要翻译：描述了突变型Nav1.7钠通道α-亚基和编码这种突变体的核酸序列。还描述了用于表征编码Nav1.7钠通道α-亚基的核酸序列的方法，用于确定Nav1.7单元型的方法，用于确定受试者对与钠通道突变相关的神经障碍的倾向的方法，以及方法鉴定调节突变型Nav1.7钠通道的化合物。本文还描述了与突变型Nav1.7钠通道相关的其它材料，组合物，制品，装置和方法。

5. 发明授权

US09617316B2 Mutant sodium channel Nav1.7 and methods related thereto 有权
公开(公告)号：US09617316B2
公开(公告)日：2017-04-11
申请号：US13967306
申请日：2013-08-14
申请人： Mark F. Leppert , Nanda A. Singh
发明人： Mark F. Leppert , Nanda A. Singh
IPC分类号： C07H21/00 , C07K14/47 , C12N15/85 , C07K14/705 , C12Q1/68 , A01K67/027
CPC分类号： C07K14/47 , A01K67/0275 , C07K14/705 , C12N15/85 , C12Q1/6883 , C12Q2600/106 , C12Q2600/136 , C12Q2600/156 , C12Q2600/172
摘要： Described are mutant Nav1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Nav1.7 sodium channel alpha-subunit, methods for determining a Nav1.7 haplotype, methods for determining a subject's predisposition to a neurologic disorder associated with a sodium channel mutation, and methods of identifying a compound that modulates mutant Nav1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Nav1.7 sodium channels are also described herein.

6. 发明授权

US07670771B2 Mutant sodium channel Nav1.7 nucleic acid methods 失效
标题翻译：突变型钠通道Nav1.7核酸方法
公开(公告)号：US07670771B2
公开(公告)日：2010-03-02
申请号：US10585717
申请日：2005-01-21
申请人： Mark F. Leppert , Nanda A. Singh
发明人： Mark F. Leppert , Nanda A. Singh
IPC分类号： C12Q1/68
CPC分类号： C12Q1/6883 , C07K14/705 , C12Q2600/156 , C12Q2600/172 , Y10T436/143333
摘要： Described are mutant Nav1.7 sodium channel alpha-subunits and nucleic acid sequences encoding such mutants. Further described are methods for characterizing a nucleic acid sequence that encodes a Nav1 sodium channel alpha-subunit, methods for determining a Nav1.7 haplotype, methods for determining a subject's predisposition to a neurologic disorder associated with a sodium channel mutation, and methods of identifying a compound that modulates mutant Nav1.7 sodium channels. Other materials, compositions, articles, devices, and methods relating to mutant Nav1.7 sodium channels are also described herein.
摘要翻译：描述了突变型Nav1.7钠通道α-亚基和编码这种突变体的核酸序列。还描述了用于表征编码Nav1钠通道α-亚基的核酸序列的方法，用于确定Nav1.7单元型的方法，用于确定受试者对与钠通道突变相关的神经障碍的倾向的方法，以及鉴定一种调节突变型Nav1.7钠通道的化合物。本文还描述了与突变型Nav1.7钠通道有关的其它材料，组合物，制品，装置和方法。

7. 发明授权

US06413719B1 KCNQ2 and KCNQ3-potassium channel genes which are mutated in benign familial neonatal convulsions (BFNC) and other epilepsies 有权
标题翻译：在良性家族性新生儿惊厥（BFNC）和其他癫痫中突变的KCNQ2和KCNQ3-钾通道基因
公开(公告)号：US06413719B1
公开(公告)日：2002-07-02
申请号：US09177650
申请日：1998-10-23
申请人： Nanda A. Singh , Mark F. Leppert , Carole Charlier
发明人： Nanda A. Singh , Mark F. Leppert , Carole Charlier
IPC分类号： C12P2106
CPC分类号： C12Q1/6883 , A01K2217/05 , C07K14/705 , C12Q2600/156
摘要： Generalized idiopathic epilepsies (IGE) cause 40% of all seizures and commonly have a genetic basis. One type of IGE is Benign Familial Neonatal Convulsions (BFNC), a dominantly inherited disorder of newborns. A submicroscopic deletion of chromosome 20q13.3 which co-segregates with seizures in a BFNC family has been identified. Characterization of cDNAs spanning the deleted region identified a novel voltage-gated potassium channel, KCNQ2, which belongs to a new KCNQ1-like class of potassium channels. Nine other BFNC probands were shown to have KCNQ2 mutations including three missense mutations, three frameshifts, two nonsense mutations, and one splice site mutation. A second gene, KCNQ3, was found in a separate BFNC family in which the mutation had been localized to chromosome 8. A missense mutation was found in this gene in perfect cosegregation with the BFNC phenotype in this latter family. This demonstrates that defects in potassium channels can cause epilepsy. Furthermore, some members of one of the BFNC families with a mutation in KCNQ2 also exhibited rolandic epilepsy and one individual with juvenile myoclonic epilepsy has a mutation in an alternative exon of KCNQ3.
摘要翻译：广泛性特发性癫痫（IGE）引起全部癫痫发作的40％，通常具有遗传依据。一种类型的IGE是良性的家族性新生儿惊厥（BFNC），这是新生儿的主要遗传性疾病。已经鉴定出与BFNC家族中的癫痫发作共分离的染色体20q13.3的亚显微缺失。跨越缺失区的cDNA的鉴定鉴定出新型的电压门控钾通道KCNQ2，其属于新的KCNQ1样类钾通道。其他九个BFNC先证者显示有KCNQ2突变，包括三个错义突变，三个突变，两个无义突变和一个剪接位点突变。第二个基因KCNQ3被发现在一个单独的BFNC家族中，其突变已经定位于染色体8上。在该基因中发现了与该后一种家族中BFNC表型完全共同作用的错义突变。这表明钾通道缺陷可引起癫痫。此外，KCNQ2突变的一个BFNC家族中的一些成员也表现为脊髓性癫痫，一个患有青少年肌阵挛性癫痫的个体在KCNQ3的替代外显子中具有突变。

你已经成功收藏专利！

检索式保存成功!

IPRDB

热门服务

关于我们

友情链接

联系方式