Article
Aquaporin-4 and GPRC5B: old and new players in controlling brain oedema.
Brain : a journal of neurology - 1 Aug 2023
Passchier Emma M J, Kerst Sven, Brouwers Eelke, Hamilton Eline M C, Bisseling Quinty, Bugiani Marianna, Waisfisz Quinten, Kitchen Philip, Unger Lucas, Breur Marjolein, Hoogterp Leoni, de Vries Sharon I, Abbink Truus E M, Kole Maarten H P, Leurs Rob, Vischer Henry F, Brignone Maria S, Ambrosini Elena, Feillet François, Born Alfred P, Epstein Leon G, Mansvelder Huibert D, Min Rogier, van der Knaap Marjo S
Abstract excerpt
Brain oedema is a life-threatening complication of various neurological conditions. Understanding molecular mechanisms of brain volume regulation is critical for therapy development. Unique insight comes from monogenic diseases characterized by chronic brain oedema, of which megalencephalic leukoencephalopathy with subcortical cysts (MLC) is the prototype. Variants in MLC1 or GLIALCAM, encoding proteins involved...
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