| Predicate |
Object |
| assignee |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_66467fe5b0acf469afb972f300bcfb87 |
| classificationCPCAdditional |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A01K2267-0356
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A01K2217-072
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A01K2227-105 |
| classificationCPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/G01N33-5008
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P25-28
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P25-00
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C07K14-47
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A01K67-0278
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12N5-0696
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-381
http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-025 |
| classificationIPCInventive |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A01K67-027
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-02
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12N5-074
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61P25-28
http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K31-381 |
| filingDate |
2019-01-27-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor |
http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_3c6939f9280111c4b67f20999f124fb4 |
| publicationDate |
2021-02-04-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber |
US-2021032673-A1 |
| titleOfInvention |
Method of treating intellectual disability, autism and epilepsy associated with an iqsec2 mutation and for identifying medicaments for treating the same |
| abstract |
The invention provides a method of screening for a potential candidate for treating autism, epilepsy and/or intellectual disability in a subject in need comprising contacting a cell culture or an animal with the potential drug and detecting one or more of the following features: enhancing with the binding of apocalmodulin to the IQ domain of IQSEC2; reducing the production of ARF6-GTP; inhibiting the constitutive activation of guanine nucleotide exchange factor (GEF) IQSEC2; increasing the surface expression of AMPA receptors the brain or a cell; and/or increasing basal synaptic transmission in the brain or the cell. Further provided is a method of treating autism, epilepsy and/or intellectual disability in a subject in need by administering a drug capable of presenting one or more of the above identified features in the described cell and animal models. |
| priorityDate |
2018-01-28-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type |
http://data.epo.org/linked-data/def/patent/Publication |