Associated Papers
In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.
Ruan DD et al.
Frontiers in Neuroscience, 2024
Disease mutations of human α3 Na+/K+-ATPase define extracellular Na+ binding/occlusion kinetics at ion binding site III.
Moreno C et al.
Pnas Nexus, 2022
Genetically altered animal models for ATP1A3-related disorders.
Ng HWY et al.
Disease Models & Mechanisms, 2021
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
A longitudinal footprint of genetic epilepsies using automated electronic medical record interpretation.
Ganesan S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.
Zhou GH et al.
Human Genetics, 2020
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
Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.
Jaffer F et al.
Neurology. Genetics, 2017
A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.
Smedemark-Margulies N et al.
Cold Spring Harbor Molecular Case Studies, 2016
[Characteristic asymmetric abnormal eye movement and dystonic posture as the first symptoms of alternating hemiplegia of childhood].
Motoki T et al.
No to Hattatsu = Brain and Development, 2016
[ATP1A3 gene mutations in patients with alternating hemiplegia of childhood].
Yang X et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.
Jaffer F et al.
Brain : a Journal of Neurology, 2015
The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.
Sweney MT et al.
Pediatric Neurology, 2015
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Rosewich H et al.
Neurology, 2014
Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.
Sasaki M et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2014
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
Yang X et al.
Plos One, 2014
Mutations in ATP1A3 cause alternating hemiplegia of childhood.
Aminkeng F
Clinical Genetics, 2013
Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.
Ishii A et al.
Plos One, 2013
Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.
Rosewich H et al.
The Lancet. Neurology, 2012