Associated Papers
Genetically altered animal models for ATP1A3-related disorders.
Ng HWY et al.
Disease Models & Mechanisms, 2021
Diseases caused by mutations in the Na+/K+ pump α1 gene ATP1A1.
Biondo ED et al.
American Journal of Physiology. Cell Physiology, 2021
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
Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.
Capuano A et al.
The Application of Clinical Genetics, 2020
Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.
Isaksen TJ et al.
Plos Genetics, 2017
Cognitive deficits caused by a disease-mutation in the α3 Na(+)/K(+)-ATPase isoform.
Holm TH et al.
Scientific Reports, 2016
Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.
Panagiotakaki E et al.
Orphanet Journal of Rare Diseases, 2015
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