Morphometric analysis of a Dravet Syndrome mouse model.

Summary This project will examine disease mechanisms using a genetic epilepsy mouse model of Dravet Syndrome, that has a sodium channel mutation, which has been found in over 85% of Dravet Syndrome patients. The purpose of the current project is to provide evidence of the structural mechanism/s causing seizures and possible therapeutic strategies.

Project Details

Dravet Syndrome is a devastating neurological disease with early onset in children at approximately 6 months of age. In Dravet Syndrome patients, seizures predominate and are difficult to treat; patients also have other co-morbid features including severe learning disabilities, Autistic features, movement disorder and a reduced lifespan. This project will examine disease mechanisms using a genetic epilepsy mouse model that has the sodium channel (Scn1a) gene mutation found in Dravet Syndrome patients.. A sodium channel mutation has been found in over 85% of Dravet Syndrome patients, and therefore falls into the category of a genetic epilepsy. While we understand that the mutation can have an effect on the moment to moment activity of neurons that can result in seizures, how the brain is wired differently as a consequence of the genetic mutation is unknown. The purpose of the current project is to build on the evidence we have found concerning changes in brain structure in Dravet Syndrome mouse model and to further investigate the structural mechanism/s causing seizures and commodities associated with the disease and possible therapeutic strategies. We will examine the micro circuitry of neurons during development using an array of imaging and research methods including immunohistochemistry and electron and fluorescent microscopy.