Article
Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype.
Neurobiology of disease - 1 Jul 2020
Snow John P, Westlake Grant, Klofas Lindsay K, Jeon Soyoun, Armstrong Laura C, Swoboda Kathryn J, George Alfred L, Ess Kevin C
Abstract excerpt
Alternating hemiplegia of childhood (AHC) is a rare neurodevelopmental disease caused by heterozygous de novo missense mutations in the ATP1A3 gene that encodes the neuronal specific α3 subunit of the Na,K-ATPase (NKA) pump. Mechanisms underlying patient episodes including environmental triggers remain poorly understood, and there are no empirically proven treatments for AHC. In this study, we generated...
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