http://rdf.ncbi.nlm.nih.gov/pubchem/patent/JP-2014533939-A
Outgoing Links
| Predicate | Object |
|---|---|
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-136 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-118 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-47 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K16-18 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N27-447 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-705 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N5-10 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K16-28 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-53 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-705 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-09 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A01K67-027 |
| filingDate | 2012-10-29-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationDate | 2014-12-18-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | JP-2014533939-A |
| titleOfInvention | Genes associated with seizure disorders and movement disorders and their mutations |
| abstract | The present invention relates to the identification of proline-rich transmembrane protein 2 (PRRT2) gene and mutations and variations of PRRT2 that cause seizure disorders and movement disorders. Accordingly, the present invention provides a method for diagnosing or predicting such disorders by identifying changes in the PRRT2 gene. By identifying changes in the PRRT2 gene, it is also possible to identify subjects that are more likely to have such prone offspring. The invention also provides an isolated nucleic acid molecule comprising a change in the PRRT2 gene, wherein said change results in a seizure and / or movement disorder phenotype. Also provided are isolated PRRT2 polypeptides comprising changes that result in a seizure and / or movement disorder phenotype. Furthermore, the present invention is a kit for diagnosing or predicting a subject's seizure and / or movement disorder, or for identifying a subject having an increased likelihood of having a progeny prone to seizure and / or movement disorder. A kit comprising one or more components for testing for the presence of a change in the subject's PRRT2 gene. |
| priorityDate | 2011-10-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 139.