Direct evidence of impaired neuronal Na/K-ATPase pump function in alternating hemiplegia of childhood

by Christine Q. Simmons, Christopher H. Thompson, Bryan E. Cawthon, Grant Westlake, Kathryn J. Swoboda, Evangelos Kiskinis, Kevin C. Ess, Alfred L. George, Jr
Published 2018-07-01

Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype

by John P. Snow, Grant Westlake, Lindsay K. Klofas, Soyoun Jeon, Laura C. Armstrong, Kathryn J. Swoboda, Alfred L. George, Jr, Kevin C. Ess
Published 2020-07-01

DEPDC5 haploinsufficiency drives increased mTORC1 signaling and abnormal morphology in human iPSC-derived cortical neurons

by Lindsay K. Klofas, Brittany P. Short, John P. Snow, Justine Sinnaeve, Gabrielle V. Rushing, Grant Westlake, Will Weinstein, Rebecca A. Ihrie, Kevin C. Ess, Robert P. Carson
Published 2020-09-01