Investigating how mutations in IQSEC2 cause intellectual disability and severe early onset seizures in children using a mouse modelling the knockout of Iqsec2.
Associate Professor Cheryl Shoubridge
The University of Adelaide
Intellectual disability (ID) is frequent in the population with as many as 1 in every 50 people affected. The cost to Australia of ID is estimated at $14 billion annually. Children that have mutations in the IQSEC2 gene have substantial limitations in intellectual functioning and present with autistic traits and early onset seizures. We have generated a novel mouse model with complete knockout of Iqsec2. Our study will harness this powerful resource to investigate the role of this intellectual disability gene on the development and function of the brain at the cellular and molecular level.