The Knowles Lab

Epilepsy is a disease that is defined by repeated, spontaneous seizures that strike without warning. Seizures are bursts of abnormal, excessive brain activity that can be seen on a test called electroencephalogram (EEG). Epilepsy is far more common than most people realize - affecting 1 in 26 people, or an estimated 3.4 million people in the United States, at a staggering cost of $24.5 billion annually. This disease is commonly encountered in the pediatric population, affecting 1% of all children. Epilepsy is not just seizures: the disease is associated with a range of associated challenges in children and adults including developmental delay, intellectual disability, autism, attention deficit disorder, neuropsychiatric disease, sleep impairment, movement disorders and other challenges.

The Knowles lab uses a range of basic, translational and clinical research approaches and experimental tools to answer crucial questions about epilepsy, such as:

• How does the brain “learn” to have seizures? In other words, how does the brain to become predisposed to repeated seizures, and how might we prevent or reverse these processes?
• How do seizures influence normal brain functions? What is the relationship between seizures in epilepsy, and other associated challenges such as autism and impaired cognition?
• How can we develop better treatments or even cures that target the root causes of epilepsy? We use emerging discoveries about the underlying biology of epilepsy, together with state-of-the-art research tools, to develop better treatments for epilepsy and the associated challenges.
   

We study these questions and more, in the setting of genetically determined forms of epilepsy that appear in children, including SCN8A, GABRB3, SYNGAP1, STXBP1, WDR45 and others.