Article

Alternating hemiplegia of childhood associated mutations in <i>Atp1a3</i> reveal diverse neurological alterations in mice

2024-12-24

Abstract excerpt

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 cli...

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Literature Corpus work: 04374c45-150b-50d1-aa64-6e04ab30beb1
DOI: 10.1101/2024.12.24.630241

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