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Proc Natl Acad Sci U S A. 2021 Jun 22;118(25). doi: 10.1073/pnas.2023333118.

Early role for a Na.

Proceedings of the National Academy of Sciences of the United States of America

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

Affiliations

  1. Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Insitute, Boston Children's Hospital, Boston, MA 02115; [email protected] [email protected].
  2. Department of Pediatrics and Neurology, Broad Institute of MIT and Harvard, Harvard Medical School, Boston, MA 02115.
  3. Department of Genetics, Harvard Medical School, Boston, MA 02115.
  4. Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142.
  5. Division of Genetics and Genomics, Manton Center for Orphan Disease Research, Howard Hughes Medical Insitute, Boston Children's Hospital, Boston, MA 02115.
  6. Harvard-MIT MD/PhD Program, Program in Neuroscience, Harvard Medical School, Boston, MA 02115.
  7. Arnold Palmer Hospital for Children, Orlando, FL 32806.
  8. Department of Paediatrics and Clinical Neurosciences, The Owerko Centre, University of Calgary and Alberta Children's Hospital Research Institute, Calgary, AB T2N 1N4, Canada.
  9. Mendelics Genomic Analysis, CEP 04013-000 São Paulo, Brazil.
  10. Children's Institute, Hospital das Clinicas, CEP 05403-000 São Paulo, Brazil.
  11. Center for Individualized Medicine, Mayo Clinic, Rochester, MN 55905.
  12. Department of Clinical Genomics, Mayo Clinic, Rochester, MN 55905.
  13. Department of Radiology, Benioff Children's Hospital, University of California, San Francisco, CA 94117.
  14. Department of Pediatrics, Benioff Children's Hospital, University of California, San Francisco, CA 94117.
  15. Department of Neurology, Benioff Children's Hospital, University of California, San Francisco, CA 94117.
  16. Department of Psychiatry, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115.

PMID: 34161264 PMCID: PMC8237684 DOI: 10.1073/pnas.2023333118

Abstract

Osmotic equilibrium and membrane potential in animal cells depend on concentration gradients of sodium (Na

Copyright © 2021 the Author(s). Published by PNAS.

Keywords: ATP1A3; cortex development; cortical malformation; developmental channelopathy; polymicrogyria

Conflict of interest statement

The authors declare no competing interest.

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