Varaico: Literature-Extracted Genetic Variants

Gene:ATP1A3
Variant:p.D609Y
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ATP1A3

NM_152296.5:p.D609Y

Associated Papers

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

Zou S et al.

Frontiers in Cellular Neuroscience, 2023

Approach to Cohort-Wide Re-Analysis of Exome Data in 1000 Individuals with Neurodevelopmental Disorders.

Halfmeyer I et al.

Genes, 2022

36672771 (PubMed )
Supplement: genes-14-00030-s001.zip › Table_S2.xlsx › table_S2

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.

Pavone P et al.

Medicine, 2022

Genetically altered animal models for ATP1A3-related disorders.

Ng HWY et al.

Disease Models & Mechanisms, 2021

34612482 (PubMed )
Supplement: dmm-14-048938-s1.pdf

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

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.

Salles PA et al.

Frontiers in Neurology, 2021

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

Ishihara N et al.

Brain & Development, 2019

Early-onset encephalopathy with paroxysmal movement disorders and epileptic seizures without hemiplegic attacks: About three children with novel ATP1A3 mutations.

Marzin P et al.

Brain & Development, 2018

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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."