Associated Papers
Molecular Profiling of Polish Pediatric Patients with Epilepsy: A Single-Center Diagnostic Experience Using Next-Generation Sequencing.
Chałupczyńska B et al.
Genes, 2026
Maximizing Diagnostic Yield in Intellectual Disability Through Exome Sequencing: Genotype-Phenotype Insights in a Vietnamese Cohort.
Hoang TL et al.
Diagnostics (basel, Switzerland), 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
Establishing an induced pluripotent stem cell bank using urine cells from pediatric patients with neurogenetic diseases.
Thai HBD et al.
Clinical and Experimental Pediatrics, 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
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
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
"Alternating" the Diagnosis after 40 Years of Disease: The Thousand Faces of ATP1A3 Mutation.
Gallo S et al.
Movement Disorders Clinical Practice, 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
ATP1A3 regulates protein synthesis for mitochondrial stability under heat stress.
Fujii F et al.
Disease Models & Mechanisms, 2024
Channelopathies in epilepsy: an overview of clinical presentations, pathogenic mechanisms, and therapeutic insights.
Ng AC et al.
Journal of Neurology, 2024
Characteristics of non-sleep related apneas in children with alternating hemiplegia of childhood.
Thamby J et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 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
Exome sequencing in the pediatric neuromuscular clinic leads to more frequent diagnosis of both neuromuscular and neurodevelopmental conditions.
Meyer AP et al.
Muscle & Nerve, 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
ATP1A3-related phenotypes in Chinese children: AHC, CAPOS, and RECA.
Huang D et al.
European Journal of Pediatrics, 2023
Exome sequencing for patients with developmental and epileptic encephalopathies in clinical practice.
Scheffer IE et al.
Developmental Medicine and Child Neurology, 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
The role of ATP1A3 gene in epilepsy: We need to know more.
Zou S et al.
Frontiers in Cellular Neuroscience, 2023
Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M et al.
Frontiers in Neurology, 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
Expanding phenotype of ATP1A3 mutation.
Cherian A et al.
Acta Neurologica Belgica, 2022
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