ArticleMolecular psychiatry2020
Missense variants in ATP1A3 and FXYD gene family are associated with childhood-onset schizophrenia.
Article in Molecular psychiatry, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers, 1 of them a synthesis that pooled it.
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Who cites it
28 citing papers in PubMed, 1 synthesis or guideline pooled it, 46 citations in OpenAlex.
- Childhood-Onset Schizophrenia: A Systematic Overview of Its Genetic Heterogeneity From Classical Studies to the Genomic Era.Frontiers in genetics · 2019Pooled it
- scMEDAL: interpretable single-cell transcriptomics analysis with batch effect visualization via deep mixed-effects autoencoder.Nature communications · 2026Article
- 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
- The functions of FXYD family members in human health and disease.Genes & diseases · 2026Review
- Comprehensive Assessment of Druggable Targets in Cortical Neurons Reveals Biological Limits of Cell Type-Specific Neuropharmacology.Biomedicines · 2026Article
- Exploring the roots of schizophrenia: Current research and future directions (Review).Experimental and therapeutic medicine · 2026Review
- Childhood-Onset Psychosis: A large UK case series.European child & adolescent psychiatry · 2026Article
- Zebrafish screen of schizophrenia risk genes reveals convergent dysregulation of cholesterol metabolism.bioRxiv : the preprint server for biology · 2026Article
- Navigating the Complexity of Alternating Hemiplegia in Childhood: A Comprehensive Review.Rambam Maimonides medical journal · 2024Review
- ScRNA-seq reveals novel immune-suppressive T cells and investigates CMV-TCR-T cells cytotoxicity against GBM.Journal for immunotherapy of cancer · 2024Article
- Childhood-related neural genotype-phenotype in ATP1A3 mutations: comprehensive analysis.Genes & genomics · 2024Article
- Preliminary studies on apparent mendelian psychotic disorders in consanguineous families.BMC psychiatry · 2022Article
- Article
- Chinese patients with p.Arg756 mutations ofPediatric investigation · 2022Article
- Non-Stationary Outcome of Alternating Hemiplegia of Childhood into Adulthood.Movement disorders clinical practice · 2022Article
- Association Study Between Polymorphic Loci in Cholesterol Metabolism Pathway and Gallstone in the Tibetan Population.Frontiers in genetics · 2022Article
- Genetically altered animal models for ATP1A3-related disorders.Disease models & mechanisms · 2021Article
- Next-generation gene panel testing in adolescents and adults in a medical neuropsychiatric genetics clinic.Neurogenetics · 2021Article
- Early role for a NaProceedings of the National Academy of Sciences of the United States of America · 2021Article
- What FXYDs fix.The Journal of general physiology · 2021Article
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Authors and funding
12 authors at 7 institutions in 3 countries.
Funding
Abstract
Childhood-onset schizophrenia (COS) is a rare and severe form of schizophrenia defined as onset before age of 13. Here we report on two unrelated cases diagnosed with both COS and alternating hemiplegia of childhood (AHC), and for whom two distinct pathogenic de novo variants were identified in the ATP1A3 gene. ATP1A3 encodes the α-subunit of a neuron-specific ATP-dependent transmembrane sodium-potassium pump. Using whole exome sequencing data derived from a cohort of 17 unrelated COS cases, we also examined ATP1A3 and all of its interactors known to be expressed in the brain to establish if variants could be identified. This led to the identification of a third case with a possibly damaging missense mutation in ATP1A3 and three others cases with predicted pathogenic missense variants in the FXYD gene family (FXYD1, FXYD6, and FXYD6-FXYD2 readthrough). FXYD genes encode proteins that modulate the ATP-dependant pump function. This report is the first to identify variants in the same pathway for COS. Our COS study illustrates the interest of stratifying a complex condition according to the age of onset for the identification of deleterious variants. Whereas ATP1A3 is a replicated gene in rare neuropediatric diseases, this gene has previously been linked with COS in only one case report. The association with rare variants in FXYD gene family is novel and highlights the interest of exploring these genes in COS as well as in pediatric neurodevelopmental disorders.
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