Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.F913del1
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ATP1A3

NM_152296.5:p.F913del1

Associated Papers

The role of ATP1A3 gene in epilepsy: We need to know more.

Zou S et al.

Frontiers in Cellular Neuroscience, 2023

Early role for a Na+,K+-ATPase (ATP1A3) in brain development.

Smith RS et al.

Proceedings of the National Academy of Sciences of the United States of America, 2021

34161264 (PubMed )
Supplement: pnas.2023333118.sapp.pdf

Genetic Neonatal-Onset Epilepsies and Developmental/Epileptic Encephalopathies with Movement Disorders: A Systematic Review.

Spagnoli C et al.

International Journal of Molecular Sciences, 2021

33919646 (PubMed )
Supplement: ijms-22-04202-s001.zip › Table_S1.pdf

A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant.

Ishihara N et al.

Brain & Development, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."