Associated Papers
Genetically altered animal models for ATP1A3-related disorders.
Ng HWY et al.
Disease Models & Mechanisms, 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
Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype-Phenotype Study and CI Management.
Wang W et al.
Frontiers in Cell and Developmental Biology, 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
Long-term follow up of an adult with alternating hemiplegia of childhood and a p.Gly755Ser mutation in the ATP1A3 gene.
Ito T et al.
Brain & Development, 2018
ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.
Stagnaro M et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2018
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
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
Dard R et al.
Developmental Medicine and Child Neurology, 2015
[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
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
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
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
Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.
Termsarasab P et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2015
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Rosewich H et al.
Neurology, 2014
Genotype-phenotype correlations in alternating hemiplegia of childhood.
Sasaki M et al.
Neurology, 2014
ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.
Yang X et al.
Plos One, 2014
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
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL et al.
Nature Genetics, 2012
Progressive Brain Atrophy in Alternating Hemiplegia of Childhood.
Sasaki M et al.
Movement Disorders Clinical Practice, 0