公开(公告)号：US20050015822A1

公开(公告)日：2005-01-20

申请号：US10912280

申请日：2004-08-04

申请人： Louis Ptacek ,  H. White ,  Ying-Hui Fu ,  Shana Skradski

发明人： Louis Ptacek ,  H. White ,  Ying-Hui Fu ,  Shana Skradski

IPC分类号： C07K14/47 ,  C12P21/04 ,  A01K67/027 ,  C12N5/06

CPC分类号： C07K14/47 ,  A01K2217/05 ,  A01K2217/075 ,  C12N2517/02

摘要： The present invention relates to a novel gene which is associated with audiogenic seizures in mice. The gene is known as the Monogenic Audiogenic Seizure-susceptible gene or mass1. The product of the mass1 gene is designated MASS1. Nucleic acid molecules that encode for MASS1 have been identified and purified. The sequence of murine mass1 can be found at SEQ ID NO: 1, and the sequence of human mass1 can be found at SEQ ID NO: 3. Mammalian genes encoding a MASS1 protein are also provided. The invention also provides recombinant vectors comprising nucleic acid molecules that code for a MASS1 protein. These vectors can be plasmids. In certain embodiments, the vectors are prokaryotic or eukaryotic expression vectors. The nucleic acid coding for MASS1 can be linked to a heterologous promoter. The invention also relates to transgenic animals in which one or both alleles of the endogenous mass1 gene is mutated.

摘要翻译： 本发明涉及与小鼠中的听觉发作相关的新基因。 该基因被称为单因子感觉性发作敏感基因或质量1。 mass1基因的产物命名为MASS1。 编码MASS1的核酸分子已被鉴定和纯化。 鼠群1的序列可以在SEQ ID NO：1中找到，并且人质粒1的序列可以在SEQ ID NO：3中找到。还提供了编码MASS1蛋白的哺乳动物基因。 本发明还提供了包含编码MASS1蛋白的核酸分子的重组载体。 这些载体可以是质粒。 在某些实施方案中，载体是原核或真核表达载体。 编码MASS1的核酸可以与异源启动子连接。 本发明还涉及转基因动物，其中内源mass1基因的一个或两个等位基因被突变。

公开(公告)号：US20060194873A1

公开(公告)日：2006-08-31

申请号：US11227247

申请日：2005-09-15

申请人： Yong Choi ,  Robert Gordon ,  Gerald Novak ,  Carlos Plata-Salaman ,  Roy Twyman ,  H. White ,  Boyu Zhao

发明人： Yong Choi ,  Robert Gordon ,  Gerald Novak ,  Carlos Plata-Salaman ,  Roy Twyman ,  H. White ,  Boyu Zhao

IPC分类号： A61K31/325

CPC分类号： A61K45/06 ,  A61K31/27 ,  A61K31/325 ,  A61K2300/00

摘要： This invention is directed to methods for preventing, treating, reversing, inhibiting or arresting epilepsy and epileptogenesis in a subject comprising administering to the subject in need thereof a therapeutically effective amount of a compound selected from the group consisting of Formula (I) and Formula (II), or a pharmaceutically acceptable salt or ester thereof: wherein phenyl is substituted at X with one to five halogen atoms selected from the group consisting of fluorine, chlorine, bromine and iodine; and, R1, R2, R3, R4, R5 and R6 are independently selected from the group consisting of hydrogen and C1-C4 alkyl; wherein C1-C4 alkyl is optionally substituted with phenyl (wherein phenyl is optionally substituted with substituents independently selected from the group consisting of halogen, C1-C4 alkyl, C1-C4 alkoxy, amino, nitro and cyano).

摘要翻译： 本发明涉及在受试者中预防，治疗，逆转，抑制或阻止癫痫和癫痫发生的方法，其包括向有需要的受试者施用治疗有效量的选自式（I）和式 II）或其药学上可接受的盐或酯：其中苯基在X上被一至五个选自氟，氯，溴和碘的卤素原子取代; 和R 1，R 2，R 3，R 4，R 5和/或 和R 6和R 6独立地选自氢和C 1 -C 4烷基; 其中C 1 -C 4烷基任选被苯基取代（其中苯基任选被独立地选自卤素，C 1 -C 6烷基的取代基取代， C 1 -C 4烷基，C 1 -C 4烷氧基，氨基，硝基和氰基）。