# US 9,752,193 B2 · Gene and mutations thereof associated with seizure and movement disorders > Agents: this data is available as JSON from the patentgrep API and MCP server — see https://patentgrep.com/llms.txt - Number: US 9,752,193 B2 - Document ID: US9752193B2 - Status: Granted - Kind: B2 - Application number: 14/354,461 - Filed: 2012-10-29 - Published: 2014-10-09 - Granted: 2017-09-05 - Earliest claimed: 2011-10-28 - Assignees: The University of Melbourne; Central Adelaide Local Health Network Incorporated; Itek Ventures PTY Ltd (University of South Australia) - 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 Eileen Scheffer; John Charles Mulley - Web page: https://patentgrep.com/patent/US9752193B2 ## CPC - C12Q 1/6883: for diseases caused by alterations of genetic material - C07K 14/47: from mammals - C07K 14/705: Receptors; Cell surface antigens; Cell surface determinants {(tumour specific antigens C07K14/4748)} - C07K 16/18: against material from animals or humans - G01N 27/447: using electrophoresis - C12Q 2600/118: Prognosis of disease development - C12Q 2600/136: Screening for pharmacological compounds - C12Q 2600/156: Polymorphic or mutational markers - C12Q: MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEIC ACIDS OR MICROORGANISMS (immunoassay G01N33/53); COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES - C07K: PEPTIDES (peptides in foodstuffs A23; obtaining protein compositions for foodstuffs, working-up proteins for foodstuffs A23J; preparations for medicinal purposes A61K; peptides containing beta-lactam rings C07D; cyclic dipeptides not having in their molecule any other peptide link than those which form their ring, e.g. piperazine-2,5-diones, C07D; ergot alkaloids of the cyclic peptide type C07D519/02; macromolecular compounds having statistically distributed amino acid units in their molecules, i.e. when the preparation does not provide for a specific; but for a random sequence of the amino acid units, homopolyamides and block copolyamides derived from amino acids C08G69/00; macromolecular products derived from proteins C08H1/00; preparation of glue or gelatine C09H; single cell proteins, enzymes C12N; genetic engineering processes for obtaining peptides C12N15/00; compositions for measuring or testing processes involving enzymes C12Q; investigation or analysis of biological material G01N33/00) - G01N: INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES (measuring or testing apparatus or processes other than immunoassay, involving enzymes or microorganisms C12M, C12Q) ## 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. ## Claims ### Claim 1 A method for detecting a variant PRRT2 gene in a biological sample from a human subject, the method comprising: a) contacting a variant PRRT2 gene in a biological sample from a human subject with a detectably labeled oligonucleotide that specifically hybridizes to an alteration in a variant proline rich transmembrane protein 2 (PRRT2) nucleic acid but does not bind to a wild-type PRRT2 nucleic acid not comprising the alteration; and b) detecting hybridization of the oligonucleotide to the variant PRRT2 nucleic acid; wherein detecting hybridization indicates the presence of a variant PRRT2 gene in the sample; wherein said alteration in a variant PRRT2 nucleic acid is selected from the group consisting of: c.629-630insC, c.649-650insC, IVS2+1 G>T, IVS2+5G>A, and c.950G>A. ### Claim 2 (depends on 1) The method according to claim 1, wherein the alteration in the PRRT2 nucleic acid is c.629-630insC or c.649-650insC, which are both frameshift mutations in exon 2 of the PRRT2 gene. ### Claim 3 (depends on 2) The method according to claim 2, wherein the alteration is c.649-650insC, which is the result of an insertion of a cytosine (C) nucleotide residue after the nucleotide residue at a position corresponding to position 649 of SEQ ID NO: 9. ### Claim 4 (depends on 1) The method according to claim 1, wherein the alteration in the PRRT2 nucleic acid is IVS2+1 G>T or IVS2+5G>A, which are both splice site mutations in intron 2 of the PRRT2 gene. ### Claim 5 (depends on 4) The method according to claim 4, wherein the alteration is IVS2+1 G>T, which is the result of a guanine (G) to thymine (T) nucleotide substitution at a position corresponding to position +1 of intron 2 of the PRRT2 gene. ### Claim 6 (depends on 1) The method according to claim 1, wherein the alteration is c.950G>A, which is the result of a guanine (G) to adenine (A) nucleotide substitution at a position corresponding to position 950 of SEQ ID NO: 9. ### Claim 7 (depends on 1) The method according to claim 1, wherein the detectably labeled oligonucleotide is labelled with a fluorescent moiety. ### Claim 8 (depends on 1) The method according to claim 1, wherein the detectably labeled oligonucleotide is at least 20 nucleotides in length. ### Claim 9 (depends on 4) The method according to claim 4, wherein the alteration is IVS2+5G>A, which is the result of a guanine (G) to adenine (A) nucleotide substitution at a position corresponding to position +5 of intron 2 of the PRRT2 gene.