ArticleEuropean journal of human genetics : EJHG2018
De novo ITPR1 variants are a recurrent cause of early-onset ataxia, acting via loss of channel function.
Article in European journal of human genetics : EJHG, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 43 citations in OpenAlex.
- The novel ITPR1 p.Phe2566Ser variant impairs IPJournal of internal medicine · 2026Article
- Expanding the Early Childhood Manifestations ofNeurology. Genetics · 2026Article
- Alteplase and Angioedema: Can Clinical Exome Sequencing Redefine the Paradigm?Life (Basel, Switzerland) · 2026Article
- Inositol 1,4,5-Trisphosphate Receptor 1 Gain-of-Function Increases the Risk for Cardiac Arrhythmias in Mice and Humans.Circulation · 2025Article
- Discovery of a de novo ITPR1 missense mutation in a patient with early-onset cerebellar ataxia: A rare case report of spinocerebellar ataxia 29.Molecular genetics & genomic medicine · 2024Article
- Clinical and Genetic Characterization of a Cohort of Brazilian Patients With Congenital Ataxia.Neurology. Genetics · 2024Article
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- Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.Movement disorders : official journal of the Movement Disorder Society · 2024Article
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- Article
- Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.American journal of human genetics · 2023Article
- Pharmacological potentiators of the calcium signaling cascade identified by high-throughput screening.PNAS nexus · 2023Article
- Missense mutations in inositol 1,4,5-trisphosphate receptor type 3 result in leaky CaiScience · 2022Article
- Superior Cerebellar Atrophy: An Imaging Clue to DiagnoseInternational journal of molecular sciences · 2022Article
- Lipid Dyshomeostasis and Inherited Cerebellar Ataxia.Molecular neurobiology · 2022Review
- Detection of germline mosaicism in fathers of children with intellectual disability syndromes caused by de novo variants.Molecular genetics & genomic medicine · 2022Article
- Milestones in genetics of cerebellar ataxias.Neurogenetics · 2021Review
- Solving unsolved rare neurological diseases-a Solve-RD viewpoint.European journal of human genetics : EJHG · 2021Article
- A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.American journal of medical genetics. Part A · 2021Article
- Disease-associated mutations in inositol 1,4,5-trisphosphate receptor subunits impair channel function.The Journal of biological chemistry · 2020Article
Corrections and comments
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Authors and funding
20 authors at 11 institutions in 4 countries.
Funding
Abstract
We explored the clinico-genetic basis of spinocerebellar ataxia 29 (SCA29) by determining the frequency, phenotype, and functional impact of ITPR1 missense variants associated with early-onset ataxia (EOA). Three hundred thirty one patients from a European EOA target cohort (n = 120), US-American EOA validation cohort (n = 72), and early-onset epileptic encephalopathy (EOEE) control cohort (n = 139) were screened for de novo ITPR1 variants. The target cohort was also screened for inherited ITPR1 variants. The variants' functional impact was determined by IP3-induced Ca
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