Disease: Cerebellar ataxia- areflexia- pes cavus- optic atrophy and sensorinural hearing loss
- <em>ATP1A3-</em>Related Neurologic Disorders
- <em>De novo ATP1A3</em> and compound heterozygous <em>NLRP3</em> mutations in a child with autism spectrum disorder, episodic fatigue and somnolence, and muckle-wells syndrome
- A new case of CAPOS/CAOS syndrome
- A novel presentation of an ATP1A3 gene mutation - case report and literature review
- A novel recurrent mutation in ATP1A3 causes CAPOS syndrome
- A novel variation in ATP1A3 gene in a child with CAPOS syndrome
- A Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations
- An 88.8-kb Novel Deletion of 19q13.2 Encompassing the <em>ATP1A3</em> Gene Detected by Array CGH in a Patient with Delayed Psychomotor Development, Generalized Hypotonia and Macrocephaly
- ATP1A3 mutation presenting as CAPOS syndrome + dystonia phenotype
- ATP1A3 mutations can cause progressive auditory neuropathy: a new gene of auditory synaptopathy
- ATP1A3 spectrum disorders: A video-documented history of 7 genetically confirmed early onset cases
- ATP1A3-related disorders in the differential diagnosis of acute brainstem and cerebellar dysfunction
- ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum
- ATP1A3-related disorders: An update
- ATP1A3-related early childhood onset developmental and epileptic encephalopathy responding to corpus callosotomy: A case report
- ATP1A3-related epilepsy: Report of seven cases and literature-based analysis of treatment response
- ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA
- Auditory Neuropathy as the Initial Phenotype for Patients With <em>ATP1A3</em> c.2452 G > A: Genotype-Phenotype Study and CI Management
- Beyond Dystonia-Parkinsonism: Chorea and Ataxia with ATP1A3 Mutations
- CAOS-Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss: A Third Allelic Disorder of the ATP1A3 Gene
- CAPOS syndrome and hemiplegic migraine in a novel pedigree with the specific ATP1A3 mutation
- CAPOS Syndrome: A Rare ATP1A3-Related Disorder
- Cardiac phenotype in <em>ATP1A3</em>-related syndromes: A multicenter cohort study
- Cation leak through the ATP1A3 pump causes spasticity and intellectual disability
- Cerebellar ataxia, areflexia, pes cavus, optic atrophy, and sensorineural hearing loss (CAPOS): a new syndrome
- Childhood hearing loss is a key feature of CAPOS syndrome: A case report
- Childhood Rapid-Onset Ataxia: Expanding the Phenotypic Spectrum of ATP1A3 Mutations
- Chronological dynamic changes in cortico-subcortical imbalance of cerebral blood flow in a boy with CAPOS syndrome
- Clinical and Genetic Spectrum of <em>ATP1A3</em>-Related Disorders in a Korean Pediatric Population
- Clinical features of CAPOS syndrome caused by maternal <em>ATP1A3</em> gene variation: a case report
- Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report
- Cochlear Implantation in a Case of Auditory Neuropathy Spectrum Disorder with CAPOS Syndrome
- Cochlear Implantation Outcomes in Post Synaptic Auditory Neuropathies: A Systematic Review and Narrative Synthesis
- Comparative analysis of alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism ATP1A3 mutations reveals functional deficits, which do not correlate with disease severity
- De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis
- Deficits in social behavioral tests in a mouse model of alternating hemiplegia of childhood
- Early Diagnosis of CAPOS Syndrome Before Acute-Onset Ataxia-Review of the Literature and a New Family
- Early Life Epilepsy and Episodic Apnea Revealing an ATP1A3 Mutation: Report of a Pediatric Case and Literature Review
- Epilepsy with eyelid myoclonia in the setting of de novo pathogenic variant in ATP1A3
- Fever-Induced Paroxysmal Weakness and Encephalopathy, a New Phenotype of ATP1A3 Mutation
- Fever-related ataxia: a case report of CAPOS syndrome
- Findings from aetiological investigation of Auditory Neuropathy Spectrum Disorder in children referred to cochlear implant programs
- Functional consequences of the CAPOS mutation E818K of Na<sup>+</sup>,K<sup>+</sup>-ATPase
- Further characterization of CAPOS/CAOS syndrome with the Glu818Lys mutation in the ATP1A3 gene: A case report
- Genetically altered animal models for ATP1A3-related disorders
- Genome sequencing identifies a novel mutation in ATP1A3 in a family with dystonia in females only
- Hemidystonia with polymicrogyria is part of ATP1A3-related disorders
- Insights into the Pathology of the α3 Na(+)/K(+)-ATPase Ion Pump in Neurological Disorders; Lessons from Animal Models
- Intermediate Phenotypes of ATP1A3 Mutations: Phenotype-Genotype Correlations
- Is meal order timing and flexibility key to improving patient satisfaction with hospital foodservice?
- Long-Term Follow-Up of a Patient with a De Novo p.Arg769Cys Mutation in the <em>ATP1A3</em> Gene
- Molecular and clinical characteristics of <em>ATP1A3</em>-related diseases
- Movement disorders rounds: Atypical cases in two Chinese families with novel variants in ATP1A3
- Neuronal Na+/K+ ATPase is an autoantibody target in paraneoplastic neurologic syndrome
- Novel pregnancy-triggered episodes of CAPOS syndrome
- Phenotypic overlap of alternating hemiplegia of childhood and CAPOS syndrome
- Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3
- Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation
- The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management
- The diagnostic spectrum of ATP1A3-related disorders: 3 new patients
- The expanding spectrum of neurological phenotypes in children with ATP1A3 mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and beyond
- The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene
- The Genetic Homogeneity of CAPOS Syndrome: Four New Patients With the c.2452G>A (p.Glu818Lys) Mutation in the ATP1A3 Gene
- The Influence of Na(+), K(+)-ATPase on Glutamate Signaling in Neurodegenerative Diseases and Senescence
- The Phenotypic Continuum of <em>ATP1A3</em>-Related Disorders
- Untangling the complicated web of ATP1A3 mutations
- 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
- Variants of ATP1A3 in residue 756 cause a separate phenotype of relapsing encephalopathy with cerebellar ataxia (RECA)-Report of two cases and literature review