Knock in Mouse Models and Microtubule Associated Cortical Development Disorders

Epilepsy is a common neurological disorder that affects more than 50 million people globally. In some instances the disease can be treated with drugs, but in many cases this is not possible. Drug-resistant epilepsy has devastating personal, social and economic consequences, which is reflected by the recent declaration from the World Health Organization that epilepsy is a major public health concern. Some cases of drug resistant epilepsy have been associated with changes in the structure of the brain and mutations in the Tubulin gene family. In this project our goal is to understand how mutations in these genes (TUBA1A, TUBB3, TUBB5 and TUBG1) cause epilepsy. To do this we will use genetically modified mice that carry human disease causing mutations. We will study: the behaviour of these mice; their brains during development; the cellular characteristics of the neurons; and the genes expressed in key brain areas. Our results will contribute to a deeper understanding of the causes of epilepsy and brain disease, and may identify targets that could be exploited to modulate epilepsy severity.

No additional funding sources recorded.