Article

Insights into heterozygous ITPR1 variants associated with ataxia and miosis

2025-04-23

Abstract excerpt

<h4>Background</h4> Only twice have variants in the ITPR1 gene been described among patients with ataxia and miosis. Functional characterization of these variants is lacking. <h4>Objective</h4> To characterize a family affected by congenital ataxia and miosis associated with a novel ITPR1 variant and to provide a functional assessment for it and two previously reported variants. <h4>Methods</h4> Clinical character...

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Literature Corpus work: 17f09ec0-f35a-522e-89f5-5e1ec0671b18
DOI: 10.1101/2025.04.15.25325838

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