Stxbp1/Munc18-1 haploinsufficiency impairs inhibition and mediates key neurological features of STXBP1 encephalopathy

Mingshan Xue's lab at Baylor College of Medicine and Texas Children's Hospital has published a paper in the peer-reviewed journal eLife on a robust STXBP1 mouse model. “Our lab developed animal models for STXBP1 disorder to understand the underlying mechanism and test potential clinical therapies,” said Dr. Wu Chen, postdoctoral fellow in Dr. Xue’s lab and lead author of the study.” Animal models are critical to our understanding of disease, as well as treatment development. This mouse model reproduces STXBP1 seizure phenotypes as well as other neurodevelopmental features of STXBP1. Xue's lab also identifies a specific type of neurons, GABAergic neurons, as likely contributors to symptoms STXBP1 patients experience. To learn more, see Dr. Chen's video from our summer 2019 conference session #5 “Understanding STXBP1 Disorders in Mouse Models”