Article

Neuronal Modeling of Alternating Hemiplegia of Childhood Reveals Transcriptional Compensation and Replicates a Trigger-Induced Phenotype

2020-04-10

Abstract excerpt

<h4>ABSTRACT</h4> 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 g...

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Literature Corpus work: f99e319e-2ad5-5e60-a6f0-abcea1d8f563
DOI: 10.1101/2020.04.08.031732

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