Exploring the role of DEPDC5 mutations in childhood brain abnormalities
Associate Professor Leanne Dibbens
University of South Australia
We will determine if mutations in the DEPDC5 gene are responsible for some defects in child brain development. We recently discovered DEPDC5 mutations cause familial focal epilepsy (inherited). Some patients with earlier age of seizure onset (1-7yrs) have visible brain malformations and intellectual disability and/or autism spectrum disorder. Because DEPDC5 negatively regulates cell growth and metabolism these brain lesions may be due to abnormal growth and metabolism of brain cells. If we can establish this is the case, drugs exist that could treat these children and may prevent some symptoms.