Associated Papers
Pathogenic Variants in A TP1A3: Why Is There So Much Confusion?
Sweadner KJ et al.
Neurology. Genetics, 2025
Ketogenic diet for alternating hemiplegia of childhood: Case report and literature review.
Yang Y et al.
Medicine, 2025
Unusual Phenotypic Variability in Paroxysmal Dystonia Associated with Rare ATP1A3 Mutation: A Case Report and Review.
Czylok MA et al.
Journal of Child Neurology, 2025
In vivo prime editing rescues alternating hemiplegia of childhood in mice.
Sousa AA et al.
Cell, 2025
Combined genomics and proteomics unveils elusive variants and vast aetiologic heterogeneity in dystonia.
Zech M et al.
Brain : a Journal of Neurology, 2025
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 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
Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice.
Terrey M et al.
Neurobiology of Disease, 2025
Genetic etiology of 283 Chinese individuals with epilepsy using copy number variation sequencing and whole exome sequencing: a single-center cohort study.
Hu J et al.
Bmc Medical Genomics, 2025
ATP1A3 Variants, Variably Penetrant Short QT Intervals, and Lethal Ventricular Arrhythmias.
Moya-Mendez ME et al.
Jama Pediatrics, 2025
Progressive central cardiorespiratory rate downregulation and intensifying epilepsy lead to sudden unexpected death in epilepsy in mouse model of the most common human ATP1A3 mutation.
Hunanyan AS et al.
Epilepsia, 2025
Critical Events in Patients With Alternating Hemiplegia of Childhood: A Cohort Study Subgroup Analysis.
Funk EM et al.
Aana Journal, 2025
Novel mouse model of alternating hemiplegia of childhood exhibits prominent motor and seizure phenotypes.
Hawkins NA et al.
Neurobiology of Disease, 2024
Children and Adolescent Patients with Variants in the ATP1A3 -encoded Sodium-Potassium ATPase Alpha-3 Subunit Demonstrate an Impaired QT Response to Bradycardia and Predisposition to Sinus Node Dysfunction.
Srour MK et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Do germline genetic variants influence surgical outcomes in drug-resistant epilepsy?
Marques P et al.
Epilepsy Research, 2024
A case of alternating hemiplegia in 2-month-old children with nystagmus as the first symptom: A case report.
Qiao Q et al.
Medicine, 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
Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.
Ng AC et al.
Journal of Neurology, 2024
ATP1A3 Disease Spectrum Includes Paroxysmal Weakness and Encephalopathy Not Triggered by Fever.
Immanneni C et al.
Neurology. Genetics, 2024
Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.
Muthaffar OY et al.
Genes & Genomics, 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
ATP1A3-Associated Paroxysmal Dystonia.
Ledoux MS
Tremor and Other Hyperkinetic Movements (new York, N.y.), 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
The CLDN5 gene at the blood-brain barrier in health and disease.
Hashimoto Y et al.
Fluids and Barriers of the Cns, 2023
ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
Huang D et al.
European Journal of Pediatrics, 2023
Alternating hemiplegia of childhood.
Ananthavarathan P et al.
Handbook of Clinical Neurology, 2023
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D et al.
Jama Neurology, 2022
The Phenotypic Continuum of ATP1A3-Related Disorders.
Vezyroglou A et al.
Neurology, 2022
From diagnostic testing to precision medicine: the evolving role of genomics in cardiac channelopathies and cardiomyopathies in children.
Bidzimou MK et al.
Current Opinion in Genetics & Development, 2022
Alternating hemiplegia of childhood: a distinct clinical entity and ATP1A3-related disorders: A narrative review.
Pavone P et al.
Medicine, 2022
The clinical and biochemical hallmarks generally associated with GLUT1DS may be caused by defects in genes other than SLC2A1.
Sánchez-Lijarcio O et al.
Clinical Genetics, 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