Patents by Inventor Ingrid Elleen Scheffer

Ingrid Elleen Scheffer has filed for patents to protect the following inventions. This listing includes patent applications that are pending as well as patents that have already been granted by the United States Patent and Trademark Office (USPTO).

  • GENE AND MUTATIONS THEREOF ASSOCIATED WITH SEIZURE AND MOVEMENT DISORDERS
    Publication number: 20180030536
    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.
    Type: Application
    Filed: July 28, 2017
    Publication date: February 1, 2018
    Applicants: ITEK VENTURES PTY LTD, The University of Melbourne, Central Adelaide Local Health Network Incorporated
    Inventors: Sarah Elizabeth HERON, Leanne Michelle Dibbens, Samuel Frank Berkovic, Ingrid Elleen Scheffer, John Charles Mulley