http://rdf.ncbi.nlm.nih.gov/pubchem/patent/US-2021262029-A1
Outgoing Links
| Predicate | Object |
|---|---|
| assignee | http://rdf.ncbi.nlm.nih.gov/pubchem/patentassignee/MD5_1721d75f5bf603447ec5a26b5c1c0be0 |
| classificationCPCAdditional | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q2600-156 |
| classificationCPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61K31-444 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/C12Q1-6883 http://rdf.ncbi.nlm.nih.gov/pubchem/patentcpc/A61P25-08 |
| classificationIPCInventive | http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61K31-444 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/A61P25-08 http://rdf.ncbi.nlm.nih.gov/pubchem/patentipc/C12Q1-6883 |
| filingDate | 2021-04-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| inventor | http://rdf.ncbi.nlm.nih.gov/pubchem/patentinventor/MD5_99974561de19c62c0b13444cf8fcfb1d |
| publicationDate | 2021-08-26-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| publicationNumber | US-2021262029-A1 |
| titleOfInvention | Treatment of kcnq2 and kcnq3 gain of function-associated disorders |
| abstract | Two new de novo gain of function (GoF) variants in the KCNQ3 channel, R227 (at R1) and R230 (at R2), have been discovered by whole exome sequencing that cause neurodevelopmental disability (NDD), autism spectrum disorder (ASD), and frequent sleep-activated multifocal epileptiform discharge in children. Theses KCNQ3 mutations define a new phenotype herein called KCNQ3 GoF disorder, that contrasts both with self-limited neonatal epilepsy due to KCNQ3 partial loss-of-function, and with the neonatal or infantile-onset epileptic encephalopathies due to KCNQ2 GoF mutations. The KCNQ3 variants R230 and R227 described herein are at homologous positions to KCNQ2 missense mutations at R1:198; R2: R201. Therapies to treat KCNQ3 GoF disorders are described. |
| priorityDate | 2018-10-30-04:00^^<http://www.w3.org/2001/XMLSchema#date> |
| type | http://data.epo.org/linked-data/def/patent/Publication |
Incoming Links
Total number of triples: 79.