Associated Papers
Pathogenic Variants in A TP1A3: Why Is There So Much Confusion?
Sweadner KJ et al.
Neurology. Genetics, 2025
An outlier approach: advancing diagnosis of neurological diseases through integrating proteomics into multi-omics guided exome reanalysis.
Chui MM et al.
Npj Genomic Medicine, 2025
Whole exome sequencing-based testing of adult epilepsy in a Polish population.
Mroczek M et al.
Neurologia I Neurochirurgia Polska, 2025
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
Wilson YA et al.
Journal of Child Neurology, 2024
39246294 (PubMed )
Supplement: sj-xlsx-2-jcn-10.1177_08830738241277231.xlsx › eTable_4
Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.
Muthaffar OY et al.
Genes & Genomics, 2024
Genetic etiology of progressive pediatric neurological disorders.
Aaltio J et al.
Pediatric Research, 2024
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Calame DG et al.
Brain : a Journal of Neurology, 2023
Whole exome/genome sequencing in cyclic vomiting syndrome reveals multiple candidate genes, suggesting a model of elevated intracellular cations and mitochondrial dysfunction.
Bar O et al.
Frontiers in Neurology, 2023
37234784 (PubMed )
Supplement: Table_1.XLSX › Supplemantary_Table_1
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
Pavone P et al.
Medicine, 2022
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
Select a paper to view details