Associated Papers
ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
Huang D et al.
European Journal of Pediatrics, 2023
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
Familial childhood-onset progressive cerebellar syndrome associated with the ATP1A3 mutation.
Jaffer F et al.
Neurology. Genetics, 2017
Treatment with Oral ATP decreases alternating hemiplegia of childhood with de novo ATP1A3 Mutation.
Ju J et al.
Orphanet Journal of Rare Diseases, 2016
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
25996915 (PubMed )
Supplement: pone.0127045.s001.pdf
The expanding clinical and genetic spectrum of ATP1A3-related disorders.
Rosewich H 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
24842602 (PubMed )
Supplement: pone.0097274.s003.xlsx › Table_S1
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
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