[EN] METHOD OF TREATING INTELLECTUAL DISABILITY, AUTISM AND EPILEPSY ASSOCIATED WITH AN IQSEC2 MUTATION AND FOR IDENTIFYING MEDICAMENTS FOR TREATING THE SAME<br/>[FR] PROCÉDÉ DE TRAITEMENT DE DÉFICIENCE INTELLECTUELLE, DE L'AUTISME ET DE L'ÉPILEPSIE ASSOCIÉS À UNE MUTATION IQSEC2 ET D'IDENTIFICATION DE MÉDICAMENTS POUR LEUR TRAITEMENT
申请人:TECHNION RES & DEV FOUNDATION
公开号:WO2019145957A1
公开(公告)日:2019-08-01
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.