Associated Papers
In vivo prime editing rescues alternating hemiplegia of childhood in mice.
Sousa AA et al.
Cell, 2025
Characteristics of non-sleep related apneas in children with alternating hemiplegia of childhood.
Thamby J et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2024
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
Characterization of Severe and Extreme Behavioral Problems in Patients With Alternating Hemiplegia of Childhood.
Wallace K et al.
Pediatric Neurology, 2020
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
[ATP1A3 gene mutations in patients with alternating hemiplegia of childhood].
Yang X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
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
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
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