Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype

Neuronal modeling of alternating hemiplegia of childhood reveals transcriptional compensation and replicates a trigger-induced phenotype

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 rem...

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Bibliographic Details
Main Authors: John P. Snow, Grant Westlake, Lindsay K. Klofas, Soyoun Jeon, Laura C. Armstrong, Kathryn J. Swoboda, Alfred L. George, Jr, Kevin C. Ess
Format: Article
Language:English
Published: Elsevier 2020-07-01
Series:Neurobiology of Disease
Subjects:
ATP1A3
Disease modeling
Induced pluripotent stem cells
Neurodevelopment
Neuronal differentiation
Flunarizine
Online Access:http://www.sciencedirect.com/science/article/pii/S096999612030156X

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http://www.sciencedirect.com/science/article/pii/S096999612030156X

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