ReviewThe application of clinical genetics2020
Alternating Hemiplegia of Childhood: Understanding the Genotype-Phenotype Relationship of ATP1A3 Variations.
Review in The application of clinical genetics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
22 citing papers in PubMed, 39 citations in OpenAlex.
- The Movement Disorder Spectrum of ATP1A3-Related Disorders: Cross-Sectional Analysis and Video Archive of 88 Patients.Movement disorders : official journal of the Movement Disorder Society · 2026Observational
- D801N in ATP1A3-encoded Na/K-ATPase alpha 3 causes cardiac arrhythmogenesis through sodium-calcium exchanger-mediated calcium overload.JCI insight · 2026Article
- Parallels between bipolar disorder and ATP1A3-related diseases: a window into the investigation of lithium for alternating hemiplegia of childhood.Orphanet journal of rare diseases · 2026Review
- Natural History of Alternating Hemiplegia of Childhood: Vulnerabilities in Early Childhood and Predictive Factors for Long-Term Outcomes.Annals of the Child Neurology Society · 2025Article
- Alternating hemiplegia of childhood associated mutations in Atp1a3 reveal diverse neurological alterations in mice.Neurobiology of disease · 2025Article
- Alternating hemidystonia of childhood: a unique presentation of ATP1A3 treated with trihexyphenidyl.Journal of neurology · 2024Article
- Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review.Rambam Maimonides medical journal · 2024Review
- Article
- Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved population.Molecular genetics & genomic medicine · 2023Article
- Expanding the Allelic spectrum in ATP1A3-related disorders with 3 novel mutations and clinic features.Neurosciences (Riyadh, Saudi Arabia) · 2023Article
- The role ofFrontiers in cellular neuroscience · 2023Review
- Different phenotypes of neurological diseases, including alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism, caused by de novo ATP1A3 mutation in a family.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2022Article
- Article
- Is it really a seizure? The challenge of paroxysmal nonepileptic events in young infants.Clinical and experimental pediatrics · 2021Article
- An 88.8-kb Novel Deletion of 19q13.2 Encompassing theMolecular syndromology · 2021Article
- Alternating Hemiplegia of Childhood: A Series of Genetically Confirmed Four Cases from Southern India with Review of Published Literature.Journal of pediatric genetics · 2021Article
- Alternating Hemiplegia of Childhood: Genotype-Phenotype Correlations in a Cohort of 39 Italian Patients.Frontiers in neurology · 2021Article
- Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.Brain communications · 2021Article
- ATP1A3-Related Disorders: An Ever-Expanding Clinical Spectrum.Frontiers in neurology · 2021Review
- Auditory-perceptual voice and speech evaluation in ATP1A3 positive patients.Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia · 2020Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Alternating hemiplegia of childhood (AHC) is a rare neurological disorder affecting children with an onset before 18 months. Diagnostic clues include transient episodes of hemiplegia alternating in the laterality or quadriparesis, nystagmus and other paroxysmal attacks as tonic and dystonic spells. Epilepsy is also a common feature. In the past, a great effort has been done to understand the genetic basis of the disease leading to the discovery of mutations in the ATP1A3 gene encoding for the alpha3 subunit of Na
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.