Eric D. Marsh

This study creates a mouse model with the KCNC1-A421V variant to investigate its effects on neuronal excitability and epilepsy, finding impaired function in fast-spiking interneurons and network dysfunction.

This study shows that suppressing Tubb4a with an ASO improves symptoms and extends lifespan in a mouse model of H-ABC leukodystrophy.

The paper investigates how transient prenatal hypoxia affects chromatin accessibility and transcriptional responses in mouse cortical neurons, linking these changes to long-term circuit dysfunction.

This study shows that restoring Cln3 in neurons normalizes brain network dysfunction in CLN3 disease despite persistent storage accumulation, suggesting neuronal loss-of-function, not storage, drives neurologic symptoms.

This study evaluates 17 KCNB1 variants associated with DEE and NDD using high-throughput assays to identify functional defects in Kv2.1 channels.