Erin Heinzen

SLC35A2 loss-of-function variants affect glycomic signatures, neuronal fate and network dynamics Lai et al. have used human stem cell-derived neurons to model SLC35A2-associated epilepsy. They show that loss-of-function variants disrupt glycosylation,

Happy to share our latest manuscript!
We created an isogenic human stem cell model that showed loss-of-function SLC35A2 variants disrupt glycosylation, accelerate neurodevelopment, skew neuronal fate, and lead to hypoactive, asynchronous neural networks with altered synaptic function.