Gene: ATP1A3

Alternate names for this Gene: AHC2|ATP1A1|CAPOS|DYT12|RDP

Gene Summary: The protein encoded by this gene belongs to the family of P-type cation transport ATPases, and to the subfamily of Na+/K+ -ATPases. Na+/K+ -ATPase is an integral membrane protein responsible for establishing and maintaining the electrochemical gradients of Na and K ions across the plasma membrane. These gradients are essential for osmoregulation, for sodium-coupled transport of a variety of organic and inorganic molecules, and for electrical excitability of nerve and muscle. This enzyme is composed of two subunits, a large catalytic subunit (alpha) and a smaller glycoprotein subunit (beta). The catalytic subunit of Na+/K+ -ATPase is encoded by multiple genes. This gene encodes an alpha 3 subunit. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.2

Description of this Gene: ATPase Na+/K+ transporting subunit alpha 3

Type of Gene: protein-coding

rs1057516032 in ATP1A3 gene and ALTERNATING HEMIPLEGIA OF CHILDHOOD 2 PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

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

PMID 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

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

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

PMID 26993267 2016 Improving diagnosis and broadening the phenotypes in early-onset seizure and severe developmental delay disorders through gene panel analysis.

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

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

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

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

PMID 26633545 2016 Molecular diagnostic experience of whole-exome sequencing in adult patients.

rs1064797245 in ATP1A3 gene and CAPOS syndrome 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 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

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

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.

rs1555859157 in ATP1A3 gene and Dysmorphic features PMID 8496742 1993 Alternating hemiplegia of childhood.

PMID 25656163 2015 Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

PMID 28293679 2017 Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

PMID 26297560 2015 Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

PMID 29184165 2017 ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.

PMID 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

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

PMID 16632466 2006 Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms.

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

PMID 2842249 1988 Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes.

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

PMID 24996492 2014 Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.

PMID 27091223 2016 The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

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

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

PMID 22534615 2012 New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

PMID 24436111 2014 Cognitive impairment in rapid-onset dystonia-parkinsonism.

PMID 25359261 2015 Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.

PMID 24739246 2014 Distinct neurological disorders with ATP1A3 mutations.

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

PMID 25895915 2015 CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

PMID 24123283 2014 Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

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

PMID 22924536 2012 ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

PMID 22933743 2012 Psychiatric disorders in rapid-onset dystonia-parkinsonism.

PMID 11020638 2000 Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.

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

rs1057516032 in ATP1A3 gene and Generalized hypotonia PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1064797245 in ATP1A3 gene and Movement Disorders PMID 28293679 2017 Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

PMID 11020638 2000 Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.

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

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

PMID 25895915 2015 CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

PMID 25656163 2015 Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

PMID 27091223 2016 The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

PMID 22924536 2012 ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

PMID 16632466 2006 Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms.

PMID 26297560 2015 Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

PMID 22534615 2012 New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

PMID 25359261 2015 Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.

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

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

PMID 24436111 2014 Cognitive impairment in rapid-onset dystonia-parkinsonism.

PMID 24739246 2014 Distinct neurological disorders with ATP1A3 mutations.

PMID 22933743 2012 Psychiatric disorders in rapid-onset dystonia-parkinsonism.

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

PMID 24996492 2014 Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.

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

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

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

PMID 24123283 2014 Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

PMID 2842249 1988 Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes.

PMID 29184165 2017 ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.

PMID 8496742 1993 Alternating hemiplegia of childhood.

PMID 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

rs1555859593 in ATP1A3 gene and Multiple congenital anomalies PMID 16632466 2006 Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms.

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

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

PMID 11020638 2000 Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.

PMID 22534615 2012 New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

PMID 22924536 2012 ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

PMID 8496742 1993 Alternating hemiplegia of childhood.

PMID 2842249 1988 Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes.

PMID 24996492 2014 Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.

PMID 25359261 2015 Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.

PMID 25895915 2015 CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

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

PMID 25656163 2015 Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

PMID 22933743 2012 Psychiatric disorders in rapid-onset dystonia-parkinsonism.

PMID 26297560 2015 Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

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

PMID 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

PMID 24436111 2014 Cognitive impairment in rapid-onset dystonia-parkinsonism.

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

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

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

PMID 27091223 2016 The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

PMID 24739246 2014 Distinct neurological disorders with ATP1A3 mutations.

PMID 24123283 2014 Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

PMID 28293679 2017 Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

PMID 29184165 2017 ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.

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

rs1555859593 in ATP1A3 gene and Muscle hypotonia PMID 19652145 2009 Rapid-onset dystonia-parkinsonism in a child with a novel atp1a3 gene mutation.

PMID 16632466 2006 Mutations Phe785Leu and Thr618Met in Na+,K+-ATPase, associated with familial rapid-onset dystonia parkinsonism, interfere with Na+ interaction by distinct mechanisms.

PMID 11020638 2000 Alternating hemiplegia of childhood: clinical manifestations and long-term outcome.

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

PMID 24436111 2014 Cognitive impairment in rapid-onset dystonia-parkinsonism.

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

PMID 25656163 2015 Novel mutations in ATP1A3 associated with catastrophic early life epilepsy, episodic prolonged apnea, and postnatal microcephaly.

PMID 24123283 2014 Intermediate form between alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

PMID 24996492 2014 Clinical and genetic analysis in alternating hemiplegia of childhood: ten new patients from Southern Europe.

PMID 25359261 2015 Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only.

PMID 28293679 2017 Research conference summary from the 2014 International Task Force on ATP1A3-Related Disorders.

PMID 22924536 2012 ATP1A3 mutations in infants: a new rapid-onset dystonia-Parkinsonism phenotype characterized by motor delay and ataxia.

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

PMID 24739246 2014 Distinct neurological disorders with ATP1A3 mutations.

PMID 29184165 2017 ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy.

PMID 8496742 1993 Alternating hemiplegia of childhood.

PMID 2842249 1988 Chromosomal localization of human Na+, K+-ATPase alpha- and beta-subunit genes.

PMID 22933743 2012 Psychiatric disorders in rapid-onset dystonia-parkinsonism.

PMID 22534615 2012 New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

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

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

PMID 27091223 2016 The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene.

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 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

PMID 25895915 2015 CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene.

PMID 26297560 2015 Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype.

rs1057516032 in ATP1A3 gene and Seizures PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

rs1057516032 in ATP1A3 gene and Stroke-like episode PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.