Richard S Smith, Marta Florio, Shyam K Akula, Jennifer E Neil, Yidi Wang, R Sean Hill, Melissa Goldman, Christopher D Mullally, Nora Reed, Luis Bello-Espinosa, Laura Flores-Sarnat, Fabiola Paoli Monteiro, Casella B Erasmo, Filippo Pinto E Vairo, Eva Morava, A James Barkovich, Joseph Gonzalez-Heydrich, Catherine A Brownstein, Steven A McCarroll, Christopher A Walsh
Osmotic equilibrium and membrane potential in animal cells depend on concentration gradients of sodium (Na+ ) and potassium (K+ ) ions across the plasma membrane, a function catalyzed by the Na+ ,K+ -ATPase α-subunit. Here, we describe ATP1A3 variants encoding dysfunctional α3-subunits in children affected by polymicrogyria, a developmental malformation of the cerebral cortex characterized by abnormal folding and laminar organization. To gain cell-biological insights into the spatiotemporal dynamics of prenatal ATP1A3 expression, we built an ATP1A3 transcriptional atlas of fetal cortical development using mRNA in situ hybridization and transcriptomic profiling of ∼125,000 individual cells with single-cell RNA sequencing (Drop-seq) from 11 areas of the midgestational human neocortex...
June 22, 2021: Proceedings of the National Academy of Sciences of the United States of America