| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_8f7f2b4e5865e08c4b8590d51cd56145
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_418c50af3eab2560914f3fe40eda570f |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N2800-2857
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A01K2217-052
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A01K2227-105
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A01K2267-0356 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A01K67-0275
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/G01N33-6896 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07H21-04
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/G01N33-68
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A01K67-027
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N15-12
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K16-18
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C07K14-435 |
| filingDate |
2014-01-16-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_a9179dbc46748b2b2eec2abfe926fecc
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_83cd036dae8ab5891b8aae78e7663424
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_c93f383b882de3c01e5059b054ddb618
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_510b2a13b4438b39d0fa5914f05b8681 |
| publicationDate |
2014-07-24-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
WO-2014110628-A1 |
| titleOfInvention |
Gene and mutations thereof associated with seizure disorders |
| abstract |
The present invention relates to the detection of seizure disorders such as epilepsy. Specifically, the present invention is directed to the identification of mutations and alterations in the Dishevelled, Egl-10 and Pleckstrin Domain Containing protein 5 (DEPDC5) gene that give rise to such disorders. The present invention enables methods for the diagnosis or prognosis of seizure disorders, and enables use of the DEPDC5 gene and its encoded polypeptide in drug screening assays for the identification of therapeutics for the treatment and/or prevention of such disorders. The present invention also encompasses isolated nucleic acid molecules and polypeptides, and fragments thereof, which have an alteration in the DEPDC5 gene and its encoded polypeptide that gives rise to a seizure disorder phenotype. |
| isCitedBy |
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-111187834-A
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-114731986-B
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-109266733-B
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-109266733-A
http://rdf.ncbi.nlm.nih.gov/pubchem/patent/CN-114731986-A |
| priorityDate |
2013-01-18-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |