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Article

Novel E815K knock-in mouse model of alternating hemiplegia of childhood.

Neurobiology of disease - 1 Nov 2018

Helseth Ashley R, Hunanyan Arsen S, Adil Syed, Linabarger Molly, Sachdev Monisha, Abdelnour Elie, Arehart Eric, Szabo Marlee, Richardson Jordan, Wetsel William C, Hochgeschwender Ute, Mikati Mohamad A

Abstract excerpt

De novo mutations causing dysfunction of the ATP1A3 gene, which encodes the α3 subunit of Na+/K+-ATPase pump expressed in neurons, result in alternating hemiplegia of childhood (AHC). AHC manifests as paroxysmal episodes of hemiplegia, dystonia, behavioral abnormalities, and seizures. The first aim of this study was to characterize a novel knock-in mouse model (Atp1a3E815K+/-, Matoub, Matb+/-) containing the...

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PMID: 30071271
DOI: 10.1016/j.nbd.2018.07.028

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