Associated Papers
Pathogenic Variants in A TP1A3: Why Is There So Much Confusion?
Sweadner KJ et al.
Neurology. Genetics, 2025
CAPOS and Beyond: ATP1A3 Variants in Pediatric Movement Disorders - Case Reports.
Yanartaş MS et al.
Molecular Syndromology, 2025
Distinct genetic patterns and natural history of OPA1-related auditory neuropathy in Chinese population.
Wang H et al.
Orphanet Journal of Rare Diseases, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights From Large-Scale Exome Sequencing.
Thomsen M et al.
Annals of Clinical and Translational Neurology, 2025
Assessing the diagnostic impact of blood transcriptome profiling in a pediatric cohort previously assessed by genome sequencing.
Hou H et al.
Npj Genomic Medicine, 2025
ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.
Moya-Mendez ME et al.
Jama Pediatrics, 2025
Interpretation of de novo mutations (DNM) and genetic counseling for sporadic hearing loss based on family trio-based sequencing.
Guan J et al.
Yi Chuan = Hereditas, 2025
Unraveling genetic etiologies in complex pediatric neurological diseases: A genetic investigation using whole exome sequencing.
Gaouzi Z et al.
Plos One, 2025
Clinical and genetic analysis of a case series of 12 Chinese families with hereditary ataxia.
Guo L et al.
Frontiers in Neurology, 2025
Genetic Diversity and Expanded Phenotypes in Dystonia: Insights from Large-Scale Exome Sequencing.
Thomsen M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Childhood fever and hearing loss associated with CAPOS syndrome.
Kaneshiro S et al.
Auris, Nasus, Larynx, 2024
Phenotype Distinctions in Mice Deficient in the Neuron-Specific α3 Subunit of Na,K-ATPase: Atp1a3tm1Ling/+ and Atp1a3 +/D801Y.
Liu YB et al.
Eneuro, 2024
Exploring the Genetic Landscape of Chorea in Infancy and Early Childhood: Implications for Diagnosis and Treatment.
Spoto G et al.
Current Issues in Molecular Biology, 2024
Progressive Optic Neuropathy in Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss Syndrome: The Importance of Targeted Gene Testing.
Miller MJ et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2024
Clinical and genetic architecture of a large cohort with auditory neuropathy.
Wang H et al.
Human Genetics, 2024
Inherited Optic Neuropathies: Real-World Experience in the Paediatric Neuro-Ophthalmology Clinic.
Gilhooley MJ et al.
Genes, 2024
[Clinical features of CAPOS syndrome caused by maternal ATP1A3 gene variation: a case report].
Gao Y et al.
Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Journal of Clinical Otorhinolaryngology Head and Neck Surgery, 2024
ATP1A3-Associated Paroxysmal Dystonia.
Ledoux MS
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2024
Increased NMDARs in neurons and glutamine synthetase in astrocytes underlying autistic-like behaviors of Gabrb1-/- mice.
Wang J et al.
Iscience, 2023
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Calame DG et al.
Brain : a Journal of Neurology, 2023
Audiogram Configuration, Molecular Etiology, and Outcome of Cochlear Implantation in Postlingual Auditory Neuropathy Spectrum Disorder.
Kim Y et al.
Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology, 2023
Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.
Alyamani SA et al.
Neurosciences (riyadh, Saudi Arabia), 2023
Whole-Exome Sequencing Study of Fibroblasts Derived From Patients With Cerebellar Ataxia Referred to Investigate CoQ10 Deficiency.
Monfrini E et al.
Neurology. Genetics, 2023
ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
Huang D et al.
European Journal of Pediatrics, 2023
Temperature instability of a mutation at a multidomain junction in Na,K-ATPase isoform ATP1A3 (p.Arg756His) produces a fever-induced neurological syndrome.
Arystarkhova E et al.
The Journal of Biological Chemistry, 2023
Cerebellum and neurodevelopmental disorders: RORα is a unifying force.
Ribeiro S et al.
Frontiers in Cellular Neuroscience, 2023
Outcomes of cochlear implantation in 75 patients with auditory neuropathy.
Wu J et al.
Frontiers in Neuroscience, 2023
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A et al.
Neurology, 2022
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
Pavone P et al.
Medicine, 2022
The complexities of CACNA1A in clinical neurogenetics.
Hommersom MP et al.
Journal of Neurology, 2022
Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.
Wei W et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022
Molecular and clinical characteristics of ATP1A3-related diseases.
Li Y et al.
Frontiers in Neurology, 2022
A Rare Cause of Recurrent Febrile Encephalopathy in a Child: The Expanding Spectrum of ATP1A3 Mutations.
Tahir S et al.
Cureus, 2021
The diagnostic spectrum of ATP1A3-related disorders: 3 new patients.
Lax DN et al.
Journal of the Neurological Sciences, 2021
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Genetically altered animal models for ATP1A3-related disorders.
Ng HWY et al.
Disease Models & Mechanisms, 2021
ATP1A3-Encoded Sodium-Potassium ATPase Subunit Alpha 3 D801N Variant Is Associated With Shortened QT Interval and Predisposition to Ventricular Fibrillation Preceded by Bradycardia.
Moya-Mendez ME et al.
Journal of the American Heart Association, 2021
Early role for a Na+,K+-ATPase (ATP1A3) in brain development.
Smith RS et al.
Proceedings of the National Academy of Sciences of the United States of America, 2021
Combined dystonias: clinical and genetic updates.
Weissbach A et al.
Journal of Neural Transmission (vienna, Austria : 1996), 2021
Embryology, Malformations, and Rare Diseases of the Cochlea.
Warnecke A et al.
Laryngo- Rhino- Otologie, 2021
De novo ATP1A3 variants cause polymicrogyria.
Miyatake S et al.
Science Advances, 2021
ATP1A3 variants and slowly progressive cerebellar ataxia without paroxysmal or episodic symptoms in children.
Sasaki M et al.
Developmental Medicine and Child Neurology, 2021
Myoclonus-Ataxia Syndromes: A Diagnostic Approach.
Rossi M et al.
Movement Disorders Clinical Practice, 2021
ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.
Salles PA et al.
Frontiers in Neurology, 2021