Pathogenic Variants in the PRKRA Gene Can Result in a Rapid-Onset Dystonia-Parkinsonism-like Phenotype.

CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders - Case Reports.

Network mechanisms in rapid-onset dystonia-parkinsonism.

Structural Alterations in the Gray Matter Volume in Rapid-Onset Dystonia-Parkinsonism.

Rapid-onset dystonia-parkinsonism: First African case of ATP1A3 mutation.

Not So Smooth Sailing: FIG4-Related Disease Is a Differential Diagnosis of Rapid Onset Dystonia-Parkinsonism.

Neurological and psychiatric characterization of rapid-onset dystonia-parkinsonism over time.

ATP1A3 dysfunction causes motor hyperexcitability and afterhyperpolarization loss in a dystonia model.

In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase: Atp1a3tm1Ling/+ and Atp1a3 +/D801Y.

Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review.

Letter of response to "concerns about efficacy of deep brain stimulation (DBS) in centromedian-parafascicular thalamic complex for rapid onset dystonia-parkinsonism (DYT12-ATP1A3)".

Concerns about efficacy of deep brain stimulation (DBS) in centromedian-parafascicular thalamic complex for rapid onset dystonia-parkinsonism (DYT12-ATP1A3).

The role of genetics in the treatment of dystonia with deep brain stimulation: Systematic review and Meta-analysis.

ATP1A3 related disease manifesting as rapid onset dystonia-parkinsonism with prominent myoclonus and exaggerated startle.

Centromedian-parafascicular complex deep brain stimulation improves motor symptoms in rapid onset Dystonia-Parkinsonism (DYT12-ATP1A3).

Rapid-Onset Dystonia and Parkinsonism in a Patient With Gaucher Disease.

Epilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in ATP1A3.

Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.

Rapid-onset dystonia-parkinsonism is associated with reduced cerebral blood flow without gray matter changes.

ATP1A3-Related Relapsing Encephalopathy with Cerebellar Ataxia (RECA): A Genetic Disorder with an Inflammatory Basis?

The Phenotypic Continuum of ATP1A3-Related Disorders.

ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report.

ATP1A3 mutation in rapid-onset dystonia parkinsonism: New data and genotype-phenotype correlation analysis.

Molecular and clinical characteristics of ATP1A3-related diseases.

Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.

Hemidystonia with polymicrogyria is part of ATP1A3-related disorders.

Teaching Video NeuroImage: Oculogyric Crises in a 12-Year-Old Girl With Rapid-Onset Dystonia Parkinsonism.

Chinese patients with p.Arg756 mutations of ATP1A3: Clinical manifestations, treatment, and follow-up.

A novel presentation of an ATP1A3 gene mutation - case report and literature review.

In Vivo Brain Sodium Disequilibrium in ATP1A3-Related Rapid-Onset Dystonia-Parkinsonism.

A Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations.

Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.

Long-Term Follow-Up of a Patient with a De Novo p.Arg769Cys Mutation in the ATP1A3 Gene.

Expanding Phenotype of ATP1A3 - Related Disorders: A Case Series.

The diagnostic spectrum of ATP1A3-related disorders: 3 new patients.

Genetically altered animal models for ATP1A3-related disorders.

ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction.

Atypical presentation of rapid-onset dystonia-parkinsonism in a toddler with a novel mutation in the ATP1A3 gene.

The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes.

Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review.

Understanding Psychiatric Disorders in Idiopathic and Inherited (Monogenic) Forms of Isolated and Combined Dystonia: A Systematic Review.

Rapid-Onset Dystonia-Parkinsonism Phenotype Consistency for a Novel Variant of ATP1A3 in Patients Across 3 Global Populations.

ATP1A2- and ATP1A3-associated early profound epileptic encephalopathy and polymicrogyria.

ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.

Anesthetic Management of a Child With Rapid-Onset Dystonia-Parkinsonism (DYT12-ATP1A3): A Case Report.

De novo ATP1A3 variants cause polymicrogyria.

Rapid-onset dystonia-parkinsonism with ATP1A3 mutation and left lower limb paroxysmal dystonia.

The Expanding Phenotypic Spectrums Associated with ATP1A3 Mutation in a Family with Rapid-Onset Dystonia Parkinsonism.

Auditory-perceptual voice and speech evaluation in ATP1A3 positive patients.

Combined dystonias: clinical and genetic updates.

Implantation of Osmotic Pumps and Induction of Stress to Establish a Symptomatic, Pharmacological Mouse Model for DYT/PARK-ATP1A3 Dystonia.

Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.

Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity.

Mutational and phenotypic expansion of ATP1A3-related disorders: Report of nine cases.

Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.

Epileptic encephalopathy with features of rapid-onset dystonia Parkinsonism and alternating hemiplegia of childhood: a novel combination phenotype associated with ATP1A3 mutation.

ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response.

Clinical and Genetic Spectrum of ATP1A3-Related Disorders in a Korean Pediatric Population.

Striatal dopaminergic dysregulation and dystonia-like movements induced by sensorimotor stress in a pharmacological mouse model of rapid-onset dystonia-parkinsonism.

Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.

Fever-related ataxia: a case report of CAPOS syndrome.

Revising rapid-onset dystonia-parkinsonism: Broadening indications for ATP1A3 testing.

Bipolar Disorder in a Young Woman With Preexisting Rapid-Onset Dystonia-Parkinsonism and Successful Treatment With Clozapine and Lithium.

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3.

Automatic Segmentation of the Subthalamic Nucleus: A Viable Option to Support Planning and Visualization of Patient-Specific Targeting in Deep Brain Stimulation.

Atypical Presentation of Rapid-onset Dystonia-parkinsonism (DYT12) Unresponsive to Deep Brain Stimulation of the Subthalamic Nucleus.

Cell biology and dynamics of Neuronal Na+/K+-ATPase in health and diseases.

A case of early onset life-threatening epilepsy associated with a novel ATP1A3 gene variant.

Rapid-onset dystonia-parkinsonism preceded by a single episode of subacute persisting hemiparesis: Expanding the ATP1A3-related disorders phenotype.

Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review.

An Elderly Woman with Reversal of Clinical Presentation Mimicking Rapid-Onset Dystonia-Parkinsonism.

De novo ATP1A3 and compound heterozygous NLRP3 mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome.

Variants in the ATP1A3 Gene Mutations within Severe Apnea Starting in Early Infancy: An Observational Study of Two Cases with a Possible Relation to Epileptic Activity.

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

ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases.

ATP1A3-related disorders: An update.

Failure of Sequential Pallidal and Motor Thalamus DBS for Rapid-Onset Dystonia-Parkinsonism (DYT12).

Disruption of Ankyrin B and Caveolin-1 Interaction Sites Alters Na+,K+-ATPase Membrane Diffusion.

It's not just the basal ganglia: Cerebellum as a target for dystonia therapeutics.

Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation.

[Dystonia 12: A rare and difficult diagnosis].

A Portuguese rapid-onset dystonia-parkinsonism case with atypical features.

Hypothermia-induced dystonia and abnormal cerebellar activity in a mouse model with a single disease-mutation in the sodium-potassium pump.

[A childhood-onset rapid-onset dystonia parkinsonism family with ATP1A3 gene mutation and literatures review].

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

A novel de-novo mutation in the ATP1A3 gene causing rapid-onset dystonia parkinsonism.

Sodium Pumps Mediate Activity-Dependent Changes in Mammalian Motor Networks.

A case of rapid-onset dystonia-parkinsonism accompanied by pyramidal tract impairment.

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

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

A novel de novo mutation in ATP1A3 and childhood-onset schizophrenia.

Neurological disease mutations of α3 Na+,K+-ATPase: Structural and functional perspectives and rescue of compromised function.

Cognitive deficits caused by a disease-mutation in the α3 Na(+)/K(+)-ATPase isoform.

Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models.

The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence.

Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood.

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

Basal Ganglia Gliosis in a Case of Rapid-Onset Dystonia-Parkinsonism (DYT12) with a Novel Mutation in ATPase 1A3 (ATP1A3).

Managing Brain Extracellular K(+) during Neuronal Activity: The Physiological Role of the Na(+)/K(+)-ATPase Subunit Isoforms.

ATP1A3 Mutation in Adult Rapid-Onset Ataxia.

Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations.

A Distinct Phenotype in a Novel ATP1A3 Mutation: Connecting the Two Ends of a Spectrum.

Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations.

Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.

α-synuclein assemblies sequester neuronal α3-Na+/K+-ATPase and impair Na+ gradient.

Aberrant Purkinje cell activity is the cause of dystonia in a shRNA-based mouse model of Rapid Onset Dystonia-Parkinsonism.

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

Neuronal Na+/K+ ATPase is an autoantibody target in paraneoplastic neurologic syndrome.

Subacute sclerosing panencephalitis masquerading as rapid-onset dystonia-Parkinsonism in a child.

Rescue of Na+ affinity in aspartate 928 mutants of Na+,K+-ATPase by secondary mutation of glutamate 314.

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

Isolated and combined dystonia syndromes - an update on new genes and their phenotypes.

P2C-Type ATPases and Their Regulation.