Variant-specific changes in persistent or resurgent sodium current in SCN8A-related epilepsy patient-derived neurons

Tidball AM, Lopez-Santiago LF, Yuan Y, Glenn TW, Margolis JL, Walker JC, Kilbane EG, Miller CA, Bebin EM, Perry MS, Isom LL, Parent JM

Brain, 2020


Understanding patient-specific neuronal disease modeling is helpful in targeting therapies. In this paper, the authors developed a patient-specific model using induced pluripotent stem cells from three patients with missense variants in SCN8A the network activity and action potentials of the neurons were evaluated with different pharmacotherapies. 

Axion's Maestro MEA system was used to evaluate the neuronal network function of patient derived excitable cortical neuronal cells.