Method of treating intellectual disability, autism and epilepsy associated with an IQSEC2 mutation and for identifying medicaments for treating the same
US12116611B2 · kind B2 · utility
Assignee
Inventor
Key dates
| Filing date | Jan 27, 2019 |
| Grant date | Oct 15, 2024 |
| Priority date | — |
| Expiry date | Feb 1, 2042 |
Classification
- Technology area (CPC A)Human Necessities
- CPC primaryA01K2267/0356
- WIPO fieldPharmaceuticals
- WIPO sectorChemistry
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.
Source: USPTO / EPO open patent data. Objective bibliographic and citation counts.