Elizabeth M. Eultgen

This paper shows that CLN3 disease causes enteric nervous system degeneration in humans and mice, which can be prevented by neonatal gene therapy in mice.

This study investigates the role of GABAergic interneurons in seizure progression and mortality in CLN2 disease mice, finding that interneuron dysfunction contributes to epileptic seizures and death.

This paper shows gene therapy prevents bowel motility issues and enteric neuron loss in mouse models of lysosomal storage diseases.

This study identifies novel disease phenotypes in Cln2R207X mice, including cortical interneuron loss and seizure generation, providing insights into CLN2 disease pathogenesis.