Variant-specific changes in persistent or resurgent Na+ current in SCN8A-EIEE13 iPSC-derived neurons
Andrew M. Tidball, Luis F. Lopez‐Santiago, Yukun Yuan, Trevor W. Glenn, Joshua L. Margolis, J. Clayton Walker, Emma G. Kilbane, Lori L. Isom, Jack M. Parent
This study uses patient-derived iPSC neurons to show variant-specific changes in sodium currents in SCN8A-EIEE13, identifying altered persistent and resurgent INa and potential therapeutic responses.
bioRxiv · Jan 16, 2020 · PreprintNeuroscience