Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice

Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice

Pathogenic variants in the neuronal Na+/K+ ATPase transmembrane ion transporter (ATP1A3) cause a spectrum of neurological disorders including alternating hemiplegia of childhood (AHC). The most common de novo pathogenic variants in AHC are p.D801N (∼40 % of patients) and p.E815K (∼25 % of patients),...

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Main Authors: Markus Terrey, Georgii Krivoshein, Scott I. Adamson, Elena Arystarkhova, Laura Anderson, John Szwec, Shelby McKee, Holly Jones, Sara Perkins, Vijay Selvam, Pierre-Alexandre Piec, Dweet Chhaya, Ari Dehn, Aamir Zuberi, Stephen A. Murray, Natalia S. Morsci, Kathleen J. Sweadner, David A. Knowles, Else A. Tolner, Arn M.J.M. van den Maagdenberg, Cathleen M. Lutz
Format: Article
Language:English
Published: Elsevier 2025-08-01
Series:Neurobiology of Disease
Subjects:
AHC
ATP1A3
Dystonia
Seizure
ATPase activity
Spreading depolarization
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996125001706
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