We are particularly interested in a disease called Polyhydramnios, Megalencephaly, and Symptomatic Epilepsy syndrome (PMSE, colloquially referred to as
Pretzel Syndrome), which results from a loss-of-function mutation in the STRADA gene. This disease has a prevalence in the Old Order Mennonite population,with a carrier frequency of around 4%, and STRADA is a megalencephaly-associated gene in the general population. PMSE causes severe, medically refractory
infantile-onset seizures, and is associated with significant neurocognitive dysfunction and a high rate of prenatal, infantile, and childhood death. We are
investigating mechanisms of how different types of neurons migrate during early brain development, to uncover therapeutic strategies that would allow us to
offer early targeted treatment for this devastating disease. We work with PMSE families and clinicians at the Clinic for Special Children in Lancaster County, PA
to advance our understanding from their experiences and update them on our findings.