FCD Neurogenetics Consortium

RESEARCH QUESTIONS

For this project, we investigate the role of brain somatic mosaicism in the epileptic disorders listed above. Each of us harbors somatic mutations, which are genetic changes that occur postzygotically and can be found in some percentage of our cells, often in a pattern that is restricted to certain tissues. In the brain, somatic mosaic mutations in certain genes and pathways, notably the MTOR pathway, can lead to epileptic disorders such as HME and FCD. Our work focuses on linking genes to epileptic disorders and uncovering the molecular and cellular mechanisms that comprise these links.

ENROLLMENT

We are currently enrolling participants who are undergoing, or have undergone, surgery to treat their epilepsy. Diagnoses that we are studying include:

• Focal Cortical Dysplasia (FCD), Type I or II
• Hemimegalencephaly (HME)
• Tuberous Sclerosis Complex (TSC)
• Aicardi Syndrome

For these cases, we work with physicians to receive resected brain tissue, which can be sent chilled or frozen (unfixed). We also collect a blood or saliva sample from the participant and from parents if available. These matched samples can be collected on or around the surgery date, or at a later time. Surgical samples can be sent to the UCLA Brain Disease Tissue Bank for storage and distribution, or directly to our lab for research sequencing. If surgical tissue is available from past cases, we can organize and cover the costs of mailing saliva kits to participants.

Interested in collaborating or enrolling? Contact our Clinical Study Office!