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METHOD OF TREATING INTELLECTUAL DISABILITY, AUTISM AND EPILEPSY ASSOCIATED WITH AN IQSEC2 MUTATION AND FOR IDENTIFYING MEDICAMENTS FOR TREATING THE SAME
METHOD OF TREATING INTELLECTUAL DISABILITY, AUTISM AND EPILEPSY ASSOCIATED WITH AN IQSEC2 MUTATION AND FOR IDENTIFYING MEDICAMENTS FOR TREATING THE SAME
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.
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