A Depolarizing Leak in Sodium Bicarbonate Cotransporter <scp>NBCe1</scp> Causes Brain Edema
The most likely pathomechanism of this novel SLC4A4-related disease is that a depolarizing leak in NBCe1 disrupts astrocyte pH regulation, promoting swelling and impairing volume control. These findings uncover a previously unrecognized mechanism of genetic brain edema and establish NBCe1 as a critical modulator of astrocyte homeostasis.
Authors
- Quinten Waisfisz (ORCID: https://orcid.org/0000-0002-7384-9182)
- Quinty Bisseling (ORCID: https://orcid.org/0000-0003-4843-2139)
- van der Knaap
- Susanna Törnroth‐Horsefield (ORCID: https://orcid.org/0000-0002-9435-8243)
- Petra J. W. Pouwels (ORCID: https://orcid.org/0000-0001-8430-0606)
- Sven Kerst (ORCID: https://orcid.org/0000-0003-4486-0320)
- Alejandra Darling (ORCID: https://orcid.org/0000-0003-0344-5809)
- Rogier Min (ORCID: https://orcid.org/0000-0002-3574-7599)
- J. A. E. van Wijk (ORCID: https://orcid.org/0000-0002-5930-0011)
- Marjolein Breur (ORCID: https://orcid.org/0000-0002-8703-4494)
- Andy Parker
- Richard A. Pasternack
- Jacob Tondreau
- Gemma M. van Rooijen‐van Leeuwen
- Ettore Salsano
- Marianna Bugiani
- Davide Tonduti
Institutions
- Hospital Sant Joan de Déu Barcelona (ES)
- Lund University (SE)
- University of Milan (IT)
- Amsterdam Neuroscience (NL)
- Ospedale dei Bambini Vittore Buzzi (IT)
- Amsterdam University Medical Centers (NL)
- Cognitive Research (United States) (US)
- Fondazione IRCCS Istituto Neurologico Carlo Besta (IT)
- University at Buffalo, State University of New York (US)
- University of Amsterdam (NL)
Publication Details
- Journal
- Annals of Clinical and Translational Neurology
- Published
- 2026-03-17
- DOI
- https://doi.org/10.1002/acn3.70363
- Primary Topic
- Ion Transport and Channel Regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.00