Patents by Inventor John Charles Mulley
John Charles Mulley 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).
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Publication number: 20230193389Abstract: 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.Type: ApplicationFiled: October 17, 2022Publication date: June 22, 2023Applicants: ITEK VENTURES PTY LTD, The University of Melbourne, Central Adelaide Local Health Network IncorporatedInventors: Sarah Elizabeth Heron, Leanne Michelle Dibbens, Samuel Frank Berkovic, Ingrid Eileen Scheffer, John Charles Mulley
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Patent number: 11473143Abstract: 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: GrantFiled: July 28, 2017Date of Patent: October 18, 2022Assignees: The University of Melbourne, Central Adelaide Local Health Network Incorporated, Itek Ventures PTY Ltd (University of South Australia)Inventors: Sarah Elizabeth Heron, Leanne Michelle Dibbens, Samuel Frank Berkovic, Ingrid Eileen Scheffer, John Charles Mulley
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Publication number: 20180215803Abstract: Methods and kits for the diagnosis of illnesses related to protocadherin 19 (PCDH19) protein deficiency or altered PCDH19 protein function are provided, as well as methods and kits for the identification of a predisposition to such illnesses and methods of screening subjects to identify carriers of such illnesses and methods and kits for the therapeutic or prophylactic treatment of PCDH19 deficiency or altered PCDH19 protein function. Further, nucleotide and amino acid sequences corresponding to a complete PCDH19 open reading frame (ORF), mutant sequences encoding non-functional PCDH19 mRNA or altered PCDH19 mRNA are described along with transformed cells and non-human transgenic animals comprising wild-type or mutant PCDH19 ORF nucleotide sequences.Type: ApplicationFiled: January 9, 2018Publication date: August 2, 2018Inventors: Leanne Michelle DIBBENS, Ingrid Eileen SCHEFFER, Samuel Frank BERKOVIC, John Charles MULLEY, Jozef GECZ
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Publication number: 20180030536Abstract: 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: ApplicationFiled: July 28, 2017Publication date: February 1, 2018Applicants: ITEK VENTURES PTY LTD, The University of Melbourne, Central Adelaide Local Health Network IncorporatedInventors: Sarah Elizabeth HERON, Leanne Michelle Dibbens, Samuel Frank Berkovic, Ingrid Elleen Scheffer, John Charles Mulley
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Patent number: 9873723Abstract: Methods and kits for the diagnosis of illnesses related to protocadherin 19 (PCDH 19) protein deficiency or altered PCDH 19 protein function, in particular EFMR (Epilepsy and Mental Retardation limited to Females) are provided, as well as methods and kits for the identification of a predisposition to such illnesses and methods of screening subjects to identify carriers of such illnesses and methods and kits for the therapeutic or prophylactic treatment of PCDH 19 deficiency or altered PCDH 19 protein function. Further, nucleotide and amino acid sequences corresponding to a complete PCDH19 open reading frame (ORF), mutant sequences encoding non-functional PCDH19 mRNA or altered PCDH19 mRN A are described along with transformed cells and non-human transgenic animals comprising wild-type or mutant PCDH19 ORF nucleotide sequences.Type: GrantFiled: January 5, 2009Date of Patent: January 23, 2018Assignees: The University of Melbourne, Central Adelaide Local Health Network Inc.Inventors: Leanne Michelle Dibbens, Ingrid Eileen Scheffer, Samuel Frank Berkovic, John Charles Mulley, Jozef Gecz
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Patent number: 9752193Abstract: 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: GrantFiled: October 29, 2012Date of Patent: September 5, 2017Assignees: The University of Melbourne, Central Adelaide Local Health Network Incorporated, Itek Ventures Pty Ltd (University of South Australia)Inventors: Sarah Elizabeth Heron, Leanne Michelle Dibbens, Samuel Frank Berkovic, Ingrid Eileen Scheffer, John Charles Mulley
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Publication number: 20140304846Abstract: 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: ApplicationFiled: October 29, 2012Publication date: October 9, 2014Inventors: Sarah Elizabeth Heron, Leanne Michelle Dibbens, Samuel Frank Berkovic, Ingrid Eileen Scheffer, John Charles Mulley
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Patent number: 8129142Abstract: A method of identifying a subject predisposed to a disorder associated with ion channel dysfunction, comprising ascertaining whether at least one of the genes encoding ion channel subunits in said subject has undergone a mutation event as set forth in one of SEQ ID Numbers: 1-72.Type: GrantFiled: August 6, 2004Date of Patent: March 6, 2012Assignee: Bionomics LimitedInventors: John Charles Mulley, Louise Anne Harkin, Leanne Michelle Dibbens, Hilary Anne Phillips, Sarah Elizabeth Heron, Samuel Frank Berkovic, Ingrid Eileen Scheffer, Anne Davy
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Patent number: 7989182Abstract: A method of identifying a subject predisposed to a disorder associated with ion channel dysfunction, comprising ascertaining whether at least one of the genes encoding ion channel subunits in said subject has undergone a mutation event such that a cDNA derived from said subject has the sequence set forth in one of SEQ ID NOS: 1-134.Type: GrantFiled: January 29, 2010Date of Patent: August 2, 2011Assignee: Bionomics LimitedInventors: John Charles Mulley, Louise Anne Harkin, Leanne Michelle Dibbens, Robyn Heather Wallace, Hilary Anne Phillips, Sarah Elizabeth Heron, Samuel Frank Berkovic, Ingrid Eileen Scheffer
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Publication number: 20110126302Abstract: Methods and kits for the diagnosis of illnesses related to protocadherin 19 (PCDH 19) protein deficiency or altered PCDH 19 protein function, in particular EFMR (Epilepsy and Mental Retardation limited to Females) are provided, as well as methods and kits for the identification of a predisposition to such illnesses and methods of screening subjects to identify carriers of such illnesses and methods and kits for the therapeutic or prophylactic treatment of PCDH 19 deficiency or altered PCDH 19 protein function. Further, nucleotide and amino acid sequences corresponding to a complete PCDH19 open reading frame (ORF), mutant sequences encoding non-functional PCDH19 mRNA or altered PCDH19 mRN A are described along with transformed cells and non-human transgenic animals comprising wild-type or mutant PCDH19 ORF nucleotide sequences.Type: ApplicationFiled: January 5, 2009Publication date: May 26, 2011Inventors: Leanne Michelle Dibbens, Ingrid Eileen Scheffer, Samuel Frank Berkovic, John Charles Mulley, Jozef Gecz
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Publication number: 20100136623Abstract: A method of identifying a subject predisposed to a disorder associated with ion channel dysfunction, comprising ascertaining whether at least one of the genes encoding ion channel subunits in said subject has undergone a mutation event such that a cDNA derived from said subject has the sequence set forth in one of SEQ ID NOS: 1-134.Type: ApplicationFiled: January 29, 2010Publication date: June 3, 2010Inventors: John Charles Mulley, Louise Anne Harkin, Leanne Michelle Dibbens, Robyn Heather Wallace, Hilary Anne Phillips, Sarah Elizabeth Heron, Samuel Frank Berkovic, Ingrid Eileen Scheffer
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Patent number: 7709225Abstract: An isolated nucleic acid molecule encoding a mutant alpha subunit of a mammalian voltage-gated sodium channel, wherein a mutation event selected from the group consisting of point mutations, deletions, insertions and rearrangements has occurred and said mutation event disrupts the functioning of an assembled sodium channel comprising this mutated subunit so as to produce an epilepsy phenotype, with the proviso that the mutation event is not a C2624T transition or a G4943A transition.Type: GrantFiled: October 31, 2005Date of Patent: May 4, 2010Assignee: Bionomics LimitedInventors: Robyn Heather Wallace, John Charles Mulley, Samuel Frank Berkovic
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Publication number: 20100088778Abstract: A method for the diagnosis of an epilepsy syndrome, including SMEI or an SMEI-related syndrome, in a patient comprising testing for an alteration in the SCN1A gene in a sample obtained from the patient; and if an alteration is identified, comparing said alteration to any one of those listed in Table 3, wherein if said alteration is identical to any one of those listed in Table 3, a diagnosis of an epilepsy syndrome, including SMEI or an SMEI-related syndrome, in said patient is made in accordance with the correlation set forth in Table 3.Type: ApplicationFiled: June 16, 2006Publication date: April 8, 2010Inventors: John Charles Mulley, Louise Harkin, Samuel Frank Berkovic, Ingrid Eileen Scheffer, Steven Petrou
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Publication number: 20090081724Abstract: A method of identifying a subject predisposed to a disorder associated with ion channel dysfunction, comprising ascertaining whether at least one of the genes encoding ion channel subunits in said subject has undergone a mutation event as set forth in one of SEQ ID Numbers: 1-72.Type: ApplicationFiled: August 6, 2004Publication date: March 26, 2009Applicant: BIONOMICS LIMITEDInventors: John Charles Mulley, Louise Anne Harkin, Leanne Michelle Dibbens, Hilary Anne Phillips, Sarah Elizabeth Heron, Samuel Frank Berkovic, Ingrid Eileen Scheffer, Anne Davy
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Patent number: 7282336Abstract: An isolated nucleic acid molecule encoding a mutant alpha subunit of a mammalian voltage-gated sodium channel, wherein a mutation event selected from the group consisting of point mutations, deletions, insertions and rearrangements has occurred and said mutation event disrupts the functioning of an assembled sodium channel comprising this mutated subunit so as to produce an epilepsy phenotype, polypeptides encoded by said nucleic molecule and uses of these molecules in preparing animal models and in diagnostic applications.Type: GrantFiled: October 31, 2005Date of Patent: October 16, 2007Assignee: Bionomics LimitedInventors: Robyn Heather Wallace, John Charles Mulley, Samuel Frank Berkovic
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Patent number: 7157569Abstract: An isolated mammalian DNA molecule encoding a mutant ?-aminobutyric acid (GABA) receptor subunit, wherein a mutation event selected from the group consisting of point mutations, deletions, insertions and rearrangements has occurred and said mutation event disrupts the functioning of an assembled GABA receptor, or an otherwise functional fragment or homologue thereof.Type: GrantFiled: June 20, 2001Date of Patent: January 2, 2007Assignee: Bionomics LimitedInventors: Robyn Heather Wallace, John Charles Mulley, Samuel Frank Berkovic, Louise Anne Harkin, Leanne Michelle Dibbens
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Patent number: 7078515Abstract: The mutations D188V, V1353L, I1656M in the neuronal gene sodium-channel alpha1-subunit, SCN1A, are disclosed. The methods of using their associated polypeptides for treating sodium channel dysfunction disorders including generalized epilepsy are also disclosed.Type: GrantFiled: December 20, 2001Date of Patent: July 18, 2006Assignee: Bionomics LimitedInventors: Robyn Heather Wallace, John Charles Mulley, Samuel Frank Berkovic
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Publication number: 20040191791Abstract: An isolated nucleic acid molecule encoding a mutant mammalian beta-1 subunit of a voltage-gated sodium channel wherein a mutation event has occurred and said mutation event disrupts the functioning of an assembled sodium channel so as to produce an epilepsy phenotype, with the proviso that said mutation event is not one which results in a C121W substitution in the encoded polypeptide.Type: ApplicationFiled: May 5, 2004Publication date: September 30, 2004Inventors: Robyn Heather Wallace, John Charles Mulley, Ingrid Eileen Scheffer
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Publication number: 20040110706Abstract: The mutations D188V, V1353L, I1656M in the neuronal gene sodium-channel alpha1-subunit, SCN1A, are disclosed. The methods of using their associated polypeptides for treating sodium channel dysfunction disorders including generalised epilepsy are also disclosed.Type: ApplicationFiled: October 8, 2003Publication date: June 10, 2004Inventors: Robyn Heather Wallace, John Charles Mulley, Samuel Frank Berkovic
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Publication number: 20040038236Abstract: An isolated mammalian DNA molecule encoding a mutant &ggr;-aminobutyric acid (GABA) receptor subunit, wherein a mutation event selected from the group consisting of point mutations, deletions, insertions and rearrangements has occurred and said mutation event disrupts the functioning of an assembled GABA receptor, or an otherwise functional fragment or homologue thereof.Type: ApplicationFiled: April 9, 2003Publication date: February 26, 2004Inventors: Robyn Heather Wallace, John Charles Mulley, Samuel Frank Berkovic, Louise Anne Harkin, Leanne Michelle Dibbens