Establishment of a female model of IQSEC2-associated disorders and AAV-mediatedtreatment of the phenotypes.

JumpstartIQSEC2Grant Assistance Program2024
Written By Million Dollar Bike Ride

Awardee: Takuma Mori

Institution: Shinshu University School of Medicine

Grant Amount: $15,000

Funding Period: March 1, 2024 - February 28, 2025

Summary: This proposal aims to establish a standard strategy to understand female-specific phenotypes of IQSEC2-associated disorder using rodent models. The objectives of this project are to first produce a humanized mouse with IQSEC2-associated disorders and to investigate the physiological properties of a single neuron. The other aim of this proposal is to examine the possibility of the AAV-mediated treatment of IQSEC2-associated disorder.

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Genetic models to progress treatments for IQSEC2 related pharmacoresistant epilepsy.
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A Novel Approach for the Treatment of IQSEC2-mediated Disease.