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Patent: 9,752,193
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Summary for Patent: 9,752,193
| Title: | Gene and mutations thereof associated with seizure and movement disorders |
| Abstract: | 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. |
| Inventor(s): | Heron; Sarah Elizabeth (Highbury, AU), Dibbens; Leanne Michelle (College Park, AU), Berkovic; Samuel Frank (Melbourne, AU), Scheffer; Ingrid Eileen (Melbourne, AU), Mulley; John Charles (Firle, AU) |
| Assignee: | The University of Melbourne (Victoria, AU) Central Adelaide Local Health Network Incorporated (Adelaide, AU) Itek Ventures Pty Ltd (University of South Australia) (Salisbury South, AU) |
| Application Number: | 14/354,461 |
| Patent Claims: | see list of patent claims |
Details for Patent 9,752,193
| Applicant | Tradename | Biologic Ingredient | Dosage Form | BLA | Number | Approval Date | Patent No. | Assignee | Estimated Patent Expiration | Status | Orphan | Source |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Schering | INTRON A | interferon alfa-2b | VIAL | 103132 | 001 | 1986-06-04 | ➤ Sign Up | The University of Melbourne (Victoria, AU) Central Adelaide Local Health Network Incorporated (Adelaide, AU) Itek Ventures Pty Ltd (University of South Australia) (Salisbury South, AU) | 2031-10-28 | RX | search | |
| Schering | INTRON A | interferon alfa-2b | VIAL | 103132 | 002 | 1986-06-04 | ➤ Sign Up | The University of Melbourne (Victoria, AU) Central Adelaide Local Health Network Incorporated (Adelaide, AU) Itek Ventures Pty Ltd (University of South Australia) (Salisbury South, AU) | 2031-10-28 | RX | search | |
| Schering | INTRON A | interferon alfa-2b | VIAL | 103132 | 003 | 1986-06-04 | ➤ Sign Up | The University of Melbourne (Victoria, AU) Central Adelaide Local Health Network Incorporated (Adelaide, AU) Itek Ventures Pty Ltd (University of South Australia) (Salisbury South, AU) | 2031-10-28 | RX | search | |
| >Applicant | >Tradename | >Biologic Ingredient | >Dosage Form | >BLA | >Number | >Approval Date | >Patent No. | >Assignee | >Estimated Patent Expiration | >Status | >Orphan | >Source |
International Patent Family for US Patent 9,752,193
| Country | Patent Number | Publication Date |
|---|---|---|
| Canada | 2852631 | May 02, 2013 |
| Japan | 2014533939 | Dec 18, 2014 |
| Japan | 6465655 | Feb 06, 2019 |
| United States of America | 2014304846 | Oct 09, 2014 |
| United States of America | 2018030536 | Feb 01, 2018 |
| World Intellectual Property Organization (WIPO) | 2013059884 | May 02, 2013 |
| >Country | >Patent Number | >Publication Date |
