Associated Papers
Genetically altered animal models for ATP1A3-related disorders.
Ng HWY et al.
Disease Models & Mechanisms, 2021
34612482 (PubMed )
Supplement: dmm-14-048938-s1.pdf
ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.
Moya-Mendez ME et al.
Journal of the American Heart Association, 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
ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.
Sasaki M et al.
Developmental Medicine and Child Neurology, 2021
Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.
Capuano A et al.
The Application of Clinical Genetics, 2020
ATP1A3 mosaicism in families with alternating hemiplegia of childhood.
Yang X et al.
Clinical Genetics, 2019
30891744 (PubMed )
Supplement: CGE-96-43-s001.docx
Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.
Rosewich H et al.
Neurology. Genetics, 2017
[ATP1A3 gene mutations in patients with alternating hemiplegia of childhood].
Yang X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.
Viollet L et al.
Plos One, 2015
25996915 (PubMed )
Supplement: pone.0127045.s001.pdf
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
Yang X et al.
Plos One, 2014
Progressive Brain Atrophy in Alternating Hemiplegia of Childhood.
Sasaki M et al.
Movement Disorders Clinical Practice, 0
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