Neuronal Modeling of Alternating Hemiplegia of Childhood Reveals Transcriptional Compensation and Replicates a Trigger-Induced Phenotype
John P. Snow, Grant M. Westlake, Lindsay K. Klofas, Soyoun Jeon, Laura C. Armstrong, Kathryn J. Swoboda, Alfred L. George, Kevin C. Ess
This study uses iPSC-derived neurons from AHC patients to show elevated ATP1A3 mRNA and a stress-induced hyperactivity phenotype, suggesting potential for therapeutic screening.
Neurobiology of Disease · Apr 27, 2020Peer-reviewedNeuroscience