Condition: DYSTONIA 12


rs1064797245 in ATP1A3 gene and DYSTONIA 12 PMID 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

PMID 27726050 2017 Mosaicism in ATP1A3-related disorders: not just a theoretical risk.

PMID 27268479 2016 Childhood-onset ATP1A3-related conditions: Report of two new cases of phenotypic spectrum.

PMID 29066118 2018 A de novo p.Arg756Cys mutation in ATP1A3 causes a distinct phenotype with prolonged weakness and encephalopathy triggered by fever.

PMID 27634470 2016 De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis.

PMID 29397530 2018 Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations.

PMID 24523486 2014 The expanding clinical and genetic spectrum of ATP1A3-related disorders.

PMID 24842602 2014 ATP1A3 mutations and genotype-phenotype correlation of alternating hemiplegia of childhood in Chinese patients.

PMID 20576601 2010 The rapid-onset dystonia parkinsonism mutation D923N of the Na+, K+-ATPase alpha3 isoform disrupts Na+ interaction at the third Na+ site.

PMID 23483595 2013 The multiple faces of the ATP1A3-related dystonic movement disorder.

PMID 22850527 2012 Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study.

PMID 19652145 2009 Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

PMID 23409136 2013 Identification of ATP1A3 mutations by exome sequencing as the cause of alternating hemiplegia of childhood in Japanese patients.

PMID 24631656 2014 Alternating Hemiplegia of Childhood mutations have a differential effect on Na(+),K(+)-ATPase activity and ouabain binding.

PMID 25681536 2015 A functional correlate of severity in alternating hemiplegia of childhood.

PMID 22842232 2012 De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.

PMID 25447930 2015 The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond.

PMID 24100174 2014 Alternating hemiplegia of childhood in Denmark: clinical manifestations and ATP1A3 mutation status.

PMID 26410222 2015 Clinical profile of patients with ATP1A3 mutations in Alternating Hemiplegia of Childhood-a study of 155 patients.

PMID 24468074 2014 A novel recurrent mutation in ATP1A3 causes CAPOS syndrome.

PMID 25056583 2014 Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome.

PMID 28441826 2017 <b>Conclusion:</b> The p. R756H heterozygous mutation in ATP1A3 gene is the pathogenic mutation of RDP, analysis of genotype-phenotype correlations of RDP will be very important and meaningful.

PMID 25996915 2015 Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

PMID 15260953 2004 Mutations in the Na+/K+ -ATPase alpha3 gene ATP1A3 are associated with rapid-onset dystonia parkinsonism.

PMID 19351654 2009 A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.

PMID 20558373 2010 Case records of the Massachusetts General Hospital. Case 17-2010 - a 29-year-old woman with flexion of the left hand and foot and difficulty speaking.

PMID 17282997 2007 The phenotypic spectrum of rapid-onset dystonia-parkinsonism (RDP) and mutations in the ATP1A3 gene.

PMID 17595045 2007 ATP1A3 mutation in the first asian case of rapid-onset dystonia-parkinsonism.

PMID 17516473 2007 Heterogeneity of presentation and outcome in the Irish rapid-onset dystonia-parkinsonism kindred.

PMID 22534615 2012 In this family, a T613M mutation in the ATP1A3 gene was confirmed, the most common mutation present in patients with RDP.

PMID 24431296 2014 Genotype-phenotype correlations in alternating hemiplegia of childhood.

PMID 25523819 2015 Knock-in mouse model of alternating hemiplegia of childhood: behavioral and electrophysiologic characterization.