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

ABSTRACT: 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), which lead to early mortality by spontaneous death in mice. Nevertheless, knowledge of the development of clinically relevant neurological phenotypes without the obstacle of premature death, is critical for the identification of pathophysiological mechanisms and ultimately, for the testing of therapeutic strategies in disease models. Here, we used hybrid vigor attempting to mitigate the fragility of AHC mice and then performed behavioral, electrophysiological, biochemical,

SUBMITTER: Terrey M 

PROVIDER: S-EPMC12798733 | biostudies-literature | 2025 Aug

REPOSITORIES: biostudies-literature