Variant: rs1555859593 

    present in Gene: ATP1A3
    present in Chromosome: 19
    Position on Chromosome: 41970483
    Alleles of this Variant: G/T

rs1555859593 in ATP1A3 gene and Dysmorphic features PMID 22534615 2012 New triggers and non-motor findings in a family with rapid-onset dystonia-parkinsonism.

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

PMID 8496742 1993 Alternating hemiplegia of childhood.

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

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

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

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

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 22933743 2012 Psychiatric disorders 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 26400718 2015 Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

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 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 24739246 2014 Distinct neurological disorders with ATP1A3 mutations.

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

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

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

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

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

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

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.