Article

<i>C. elegans</i> models of Alternating Hemiplegia of Childhood have dominant neuromuscular junction defects

2026-04-26

Abstract excerpt

Dominant missense mutations in ATP1A3, encoding a Na + , K + ATPase α-3 subunit, can cause Alternating Hemiplegia of Childhood (AHC), but how these mutations lead to AHC remains unclear. Here, we establish the first C. elegans AHC models by introducing AHC-causing ATP1A3 patient mutations (D801N, E815K, L839P, and G947R) into the orthologous gene, eat-6, using CRISPR/Cas9. Homozygous C. elegans AHC model anim...

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Literature Corpus work: 95c2465d-5cca-522e-9ef1-dfd1f1f34c04
DOI: 10.64898/2026.04.22.720250

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