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Generated: September 17, 2019

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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

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