Novel mouse model of alternating hemiplegia of childhood exhibits prominent motor and seizure phenotypes.

Abstract excerpt

Pathogenic variants in ATP1A3 encoding the neuronal Na/K-ATPase cause a spectrum of neurodevelopmental disorders including alternating hemiplegia of childhood (AHC). Three recurrent ATP1A3 variants are associated with approximately half of known AHC cases and mouse models of two of these variants (p.D801N, p.E815K) replicated key features of the human disorder, which include paroxysmal hemiplegia, dystonia and...

Topics

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• Disease Models, Animal
• Hemiplegia
• Mice
• Mice, Inbred C57BL
• Phenotype