公开(公告)号：US20230193389A1

公开(公告)日：2023-06-22

申请号：US17967277

申请日：2022-10-17

申请人： ITEK VENTURES PTY LTD ,  The University of Melbourne ,  Central Adelaide Local Health Network Incorporated

发明人： Sarah Elizabeth Heron ,  Leanne Michelle Dibbens ,  Samuel Frank Berkovic ,  Ingrid Eileen Scheffer ,  John Charles Mulley

IPC分类号： C12Q1/6883 ,  C07K14/705 ,  C07K14/47 ,  C07K16/18 ,  G01N27/447

CPC分类号： C12Q1/6883 ,  C07K14/705 ,  C07K14/47 ,  C07K16/18 ,  G01N27/447 ,  C12Q2600/156 ,  C12Q2600/118 ,  C12Q2600/136

摘要： The present invention related to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype. Furthermore, the present invention provides kit for diagnosing or prognosing a seizure and/or movement disorder in a subject, or for identifying a subject with an increased likelihood of having an offspring predisposed to a seizure and/or movement disorder, wherein the kit includes one or more components for testing for the presence of an alteration in the PRRT2 gene in the subject.

公开(公告)号：US09631234B2

公开(公告)日：2017-04-25

申请号：US13690405

申请日：2012-11-30

申请人： Central Adelaide Local Health Network Incorporated

发明人： Jozef Gecz ,  Petter Stromme

IPC分类号： C12P19/34 ,  C12Q1/68 ,  G01N33/48 ,  C07K14/47

CPC分类号： C12Q1/6883 ,  C07K14/47

摘要： An isolated nucleic acid molecule comprising the nucleotide sequence set forth in SEQ ID NO: 1.

公开(公告)号：US11473143B2

公开(公告)日：2022-10-18

申请号：US15663629

申请日：2017-07-28

申请人： ITEK VENTURES PTY LTD ,  The University of Melbourne ,  Central Adelaide Local Health Network Incorporated

发明人： Sarah Elizabeth Heron ,  Leanne Michelle Dibbens ,  Samuel Frank Berkovic ,  Ingrid Eileen Scheffer ,  John Charles Mulley

IPC分类号： C12Q1/68 ,  C12P19/34 ,  C12Q1/6883 ,  C07K14/705 ,  C07K14/47 ,  C07K16/18 ,  G01N27/447

摘要： The present invention relates to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype. Furthermore, the present invention provides kit for diagnosing or prognosing a seizure and/or movement disorder in a subject, or for identifying a subject with an increased likelihood of having an offspring predisposed to a seizure and/or movement disorder, wherein the kit includes one or more components for testing for the presence of an alteration in the PRRT2 gene in the subject.

公开(公告)号：US09828351B2

公开(公告)日：2017-11-28

申请号：US15321693

申请日：2015-06-26

申请人： MONASH UNIVERSITY ,  UNIVERSITY OF SOUTH AUSTRALIA ,  CENTRAL ADELAIDE LOCAL HEALTH NETWORK INCORPORATED

发明人： Bernard Luke Flynn ,  Luigi Aurelio ,  Carmen Vittoria Scullino ,  Bing Hui Wang ,  Stuart Maxwell Pitson ,  Melissa Rose Pitman

IPC分类号： C07D271/113 ,  C07D285/08 ,  C07D419/12 ,  C07D285/135 ,  C07D271/07 ,  C07D277/56 ,  C07D271/10 ,  C07D413/12 ,  C07D413/10 ,  C07D271/107

CPC分类号： C07D285/08 ,  C07D271/06 ,  C07D271/07 ,  C07D271/10 ,  C07D271/107 ,  C07D271/113 ,  C07D277/56 ,  C07D285/135 ,  C07D413/10 ,  C07D413/12 ,  C07D419/12

摘要： The present disclosure relates generally, but not exclusively, to compounds and their use as enzyme interacting agents, in particular, agents which interact with one or more enzymes in the sphingolipid biosynthesis pathway. The disclosure further relates to the use of such compounds as research tools, use in therapy, to compositions and agents comprising said compounds, and to methods of treatment using said compounds.

公开(公告)号：US09752193B2

公开(公告)日：2017-09-05

申请号：US14354461

申请日：2012-10-29

申请人： ITEK VENTURES PTY LTD ,  The University of Melbourne ,  Central Adelaide Local Health Network Incorporated

发明人： Sarah Elizabeth Heron ,  Leanne Michelle Dibbens ,  Samuel Frank Berkovic ,  Ingrid Eileen Scheffer ,  John Charles Mulley

IPC分类号： C12Q1/68 ,  C12P19/34 ,  C07K14/705 ,  C07K14/47 ,  C07K16/18 ,  G01N27/447 ,  C07H21/02 ,  C07H21/04

CPC分类号： C12Q1/6883 ,  C07K14/47 ,  C07K14/705 ,  C07K16/18 ,  C12Q2600/118 ,  C12Q2600/136 ,  C12Q2600/156 ,  G01N27/447

摘要： The present invention relates to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype. Furthermore, the present invention provides kit for diagnosing or prognosing a seizure and/or movement disorder in a subject, or for identifying a subject with an increased likelihood of having an offspring predisposed to a seizure and/or movement disorder, wherein the kit includes one or more components for testing for the presence of an alteration in the PRRT2 gene in the subject.

公开(公告)号：US20180030536A1

公开(公告)日：2018-02-01

申请号：US15663629

申请日：2017-07-28

申请人： ITEK VENTURES PTY LTD ,  The University of Melbourne ,  Central Adelaide Local Health Network Incorporated

发明人： Sarah Elizabeth HERON ,  Leanne Michelle Dibbens ,  Samuel Frank Berkovic ,  Ingrid Elleen Scheffer ,  John Charles Mulley

IPC分类号： C12Q1/68 ,  C07K14/705 ,  C07K16/18 ,  G01N27/447 ,  C07K14/47

CPC分类号： C12Q1/6883 ,  C07K14/47 ,  C07K14/705 ,  C07K16/18 ,  C12Q2600/118 ,  C12Q2600/136 ,  C12Q2600/156 ,  G01N27/447

摘要： The present invention relates to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype. Furthermore, the present invention provides kit for diagnosing or prognosing a seizure and/or movement disorder in a subject, or for identifying a subject with an increased likelihood of having an offspring predisposed to a seizure and/or movement disorder, wherein the kit includes one or more components for testing for the presence of an alteration in the PRRT2 gene in the subject.

公开(公告)号：US20170253929A1

公开(公告)日：2017-09-07

申请号：US15463481

申请日：2017-03-20

申请人： Central Adelaide Local Health Network Incorporated

发明人： Jozef Gecz ,  Petter Stromme

IPC分类号： C12Q1/68 ,  C07K14/47

摘要： An isolated nucleic acid molecule comprising the nucleotide sequence set forth in SEQ ID NO: 1.

公开(公告)号：US10538811B2

公开(公告)日：2020-01-21

申请号：US15463481

申请日：2017-03-20

申请人： Central Adelaide Local Health Network Incorporated

发明人： Jozef Gecz ,  Petter Stromme

IPC分类号： C12Q1/6883 ,  C07K14/47 ,  C07H21/04

摘要： An isolated nucleic acid molecule comprising the nucleotide sequence set forth in SEQ ID NO: 1.

公开(公告)号：US20140304846A1

公开(公告)日：2014-10-09

申请号：US14354461

申请日：2012-10-29

申请人： ITEK VENTURES PTY LTD ,  The University of Melbourne ,  Central Adelaide Local Health Network Incorporated

发明人： Sarah Elizabeth Heron ,  Leanne Michelle Dibbens ,  Samuel Frank Berkovic ,  Ingrid Eileen Scheffer ,  John Charles Mulley

IPC分类号： C12Q1/68 ,  C07K16/18 ,  G01N27/447 ,  C07K14/47

CPC分类号： C12Q1/6883 ,  C07K14/47 ,  C07K14/705 ,  C07K16/18 ,  C12Q2600/118 ,  C12Q2600/136 ,  C12Q2600/156 ,  G01N27/447

摘要： The present invention relates to the proline rich transmembrane protein 2 (PRRT2) gene, and the identification of mutations and variations in PRRT2 that give rise to seizure and movement disorders. Accordingly, the present invention provides methods for the diagnosis or prognosis of such disorders by identifying alterations in the PRRT2 gene. Identification of alterations in the PRRT2 gene also enables the identification of subjects with an increased likelihood of having an offspring predisposed to such disorders. The present invention also provides an isolated nucleic acid molecule comprising an alteration in the PRRT2 gene, wherein said alteration produces a seizure and/or movement disorder phenotype. Also provided is an isolated PRRT2 polypeptide that comprises an alteration which produces a seizure and/or movement disorder phenotype. Furthermore, the present invention provides kit for diagnosing or prognosing a seizure and/or movement disorder in a subject, or for identifying a subject with an increased likelihood of having an offspring predisposed to a seizure and/or movement disorder, wherein the kit includes one or more components for testing for the presence of an alteration in the PRRT2 gene in the subject.

摘要翻译： 本发明涉及富含脯氨酸的跨膜蛋白2（PRRT2）基因，以及PRRT2中引起癫痫发作和运动障碍的突变和变异的鉴定。 因此，本发明通过鉴定PRRT2基因的改变来提供诊断或预测这些病症的方法。 识别PRRT2基因中的改变还能够鉴定出具有易于发生这种疾病的后代的可能性增加的受试者。 本发明还提供了包含PRRT2基因改变的分离的核酸分子，其中所述改变产生癫痫发作和/或运动障碍表型。 还提供了分离的PRRT2多肽，其包含产生癫痫发作和/或运动障碍表型的改变。 此外，本发明提供了用于诊断或预测受试者的癫痫发作和/或运动障碍的试剂盒，或用于鉴定患有易于发生癫痫发作和/或运动障碍的后代的可能性增加的受试者，其中该试剂盒包括一个 或更多的组分用于测试受试者中PRRT2基因的改变的存在。