Associated Papers
Structural Alterations in the Gray Matter Volume in Rapid-Onset Dystonia-Parkinsonism.
Haq IU et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2025
Ketogenic diet for alternating hemiplegia of childhood: Case report and literature review.
Yang Y et al.
Medicine, 2025
In vivo prime editing rescues alternating hemiplegia of childhood in mice.
Sousa AA et al.
Cell, 2025
Practical management of repeated life-threatening status epilepticus in Alternating Hemiplegia of Childhood: Case report and literature review.
Cordani R et al.
Epileptic Disorders : International Epilepsy Journal With Videotape, 2025
ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.
Moya-Mendez ME et al.
Jama Pediatrics, 2025
Novel mouse model of alternating hemiplegia of childhood exhibits prominent motor and seizure phenotypes.
Hawkins NA et al.
Neurobiology of Disease, 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
Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review.
Rissardo JP et al.
Rambam Maimonides Medical Journal, 2024
Dopa-responsive dystonia and paroxysmal dystonic attacks associated with ATP1A3 gene variant.
Soares MC et al.
Practical Neurology, 2024
Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.
Ng AC et al.
Journal of Neurology, 2024
In vitro study of ATP1A3 p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.
Ruan DD et al.
Frontiers in Neuroscience, 2024
Oral ATP treatment in alternating hemiplegia of childhood: a case report and review.
Carrozzi M et al.
Frontiers in Medicine, 2024
Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population.
Ford CP et al.
Molecular Genetics & Genomic Medicine, 2023
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability.
Calame DG et al.
Brain : a Journal of Neurology, 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
Alternating hemiplegia of childhood.
Ananthavarathan P et al.
Handbook of Clinical Neurology, 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
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
[Alternating Hemiplegia of Childhood associated with a pathogenic variant of the ATP1A3 gene].
Sandoval F et al.
Andes Pediatrica : Revista Chilena De Pediatria, 2022
Molecular and clinical characteristics of ATP1A3-related diseases.
Li Y et al.
Frontiers in Neurology, 2022
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
Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature.
Bhardwaj NK et al.
Journal of Pediatric Genetics, 2021
Paroxysmal Genetic Movement Disorders and Epilepsy.
de Gusmão CM et al.
Frontiers in Neurology, 2021
ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.
Salles PA et al.
Frontiers in Neurology, 2021
Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients.
Cordani R et al.
Frontiers in Neurology, 2021
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.
Uchitel J et al.
Brain Communications, 2021
Auditory Neuropathy as the Initial Phenotype for Patients With ATP1A3 c.2452 G > A: Genotype-Phenotype Study and CI Management.
Wang W et al.
Frontiers in Cell and Developmental Biology, 2021
Cardiac phenotype in ATP1A3-related syndromes: A multicenter cohort study.
Balestrini S et al.
Neurology, 2020
ATP1A3 mutation as a candidate cause of autosomal dominant cone-rod dystrophy.
Zhou GH et al.
Human Genetics, 2020
Characterization of Severe and Extreme Behavioral Problems in Patients With Alternating Hemiplegia of Childhood.
Wallace K et al.
Pediatric Neurology, 2020
Alternating Hemiplegia of Childhood in Korea: a Case Report.
Shin C et al.
Journal of Korean Medical Science, 2020
Clinical and Genetic Overview of Paroxysmal Movement Disorders and Episodic Ataxias.
Garone G et al.
International Journal of Molecular Sciences, 2020
Movement disorders in patients with alternating hemiplegia: "Soft" and "stiff" at the same time.
Panagiotakaki E et al.
Neurology, 2020
Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.
Capuano A et al.
The Application of Clinical Genetics, 2020
Factors in the disease severity of ATP1A3 mutations: Impairment, misfolding, and allele competition.
Arystarkhova E et al.
Neurobiology of Disease, 2019
ATP1A3 mosaicism in families with alternating hemiplegia of childhood.
Yang X et al.
Clinical Genetics, 2019
Heart rate variability in a patient with alternating hemiplegia.
Nakashima T et al.
Intractable & Rare Diseases Research, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
A recurrent de novo mutation in ATP1A3 gene in a Mexican patient with alternating hemiplegia of childhood detected by massively parallel sequencing.
Galaz-Montoya CI et al.
Boletin Medico Del Hospital Infantil De Mexico, 2019