As a young researcher in 2010, Dr. Mingshan Xue met Caroline DeLuca and her mother, Elizabeth. During their 20-minute talk, Caroline had three seizures — unfortunately frequent occurrences due to a mutation in one of her STXBP1 genes.
It made a lasting impression. When Xue established his lab in 2014 at Baylor College of Medicine to study the visual cortex, he established a side project investigating STXBP1, a mutation of which is very rare but is nonetheless considered one of the most common genetic causes of epilepsy.
“The only reason we started working on this is simply because I had met [Caroline], and I wanted to help,” Xue says. “I just thought I would do a small project to see what we could do about it.”